HaploReg: a resource for exploring chromatin states, conservation, and regulatory motif alterations within sets of genetically linked variants.
- Authors
- Ward, Lucas D; Kellis, Manolis
- Year
- 2012
- Journal
- Nucleic acids research
- PMID
- 22064851
- DOI
- 10.1093/nar/gkr917
- PMCID
- PMC3245002
The resolution of genome-wide association studies (GWAS) is limited by the linkage disequilibrium (LD) structure of the population being studied. Selecting the most likely causal variants within an LD block is relatively straightforward within coding sequence, but is more difficult when all variants are intergenic. Predicting functional non-coding sequence has been recently facilitated by the availability of conservation and epigenomic information. We present HaploReg, a tool for exploring annotations of the non-coding genome among the results of published GWAS or novel sets of variants. Using LD information from the 1000 Genomes Project, linked SNPs and small indels can be visualized along with their predicted chromatin state in nine cell types, conservation across mammals and their effect on regulatory motifs. Sets of SNPs, such as those resulting from GWAS, are analyzed for an enrichment of cell type-specific enhancers. HaploReg will be useful to researchers developing mechanistic hypotheses of the impact of non-coding variants on clinical phenotypes and normal variation. The HaploReg database is available at http://compbio.mit.edu/HaploReg.
No entities extracted from this document yet.
No uploaded files.
In this knowledge base
External
| Title | Authors | Journal | Year | Link |
|---|---|---|---|---|
| A Protective Super-Enhancer Variant Regulating SLC7A7 Modulates Autism Spectrum Disorder Risk: A Cross-Population Study. | Zhang J et al. | β | 2026 | β |
| Association of germline variants with KRAS-mutation status in colorectal cancer. | Tjader NP et al. | β | 2026 | β |
| ATACdb 2.0: a comprehensive chromatin accessibility database of human and mouse. | Fang QL et al. | β | 2026 | β |
| Both Fetal and Maternal Genotypes Affect Preeclampsia Pathogenesis in Iranian Patients. | Hashemnia V et al. | β | 2026 | β |
| Computational analysis of the structural and functional impact of the deleterious nsSNPs in the human <i>F2R</i> gene and their implications in glioma. | Arosh SM et al. | β | 2026 | β |
| Extensive enhancer crosstalk controls PPARG2 activation during adipogenesis. | Cetnarowska A et al. | β | 2026 | β |
| Genetic modifiers of APOE-Ξ΅4-associated cognitive decline. | Contreras AG et al. | β | 2026 | β |
| Genetic variants in VEGF gene family enhance colorectal cancer susceptibility via modulating metabolic pathways. | Zhou Y et al. | β | 2026 | β |
| Genome-wide association study of event-free survival in follicular lymphoma patients treated with front-line immunochemotherapy. | GhesquiΓ¨res H et al. | β | 2026 | β |
| Genome-wide identification of loci associated with plasma coagulation factor IX activity. | Han J et al. | β | 2026 | β |
| Interactions between genetic and epidemiological factors influencing mammographic density. | Suger AH et al. | β | 2026 | β |
| Large-scale integration of omics and electronic health records to identify potential risk protein biomarkers and therapeutic drugs for cancer prevention. | Li Q et al. | β | 2026 | β |
| <i>ROBO2</i> Variants Associated With Atrial Septal Defect Define a Novel Regulatory Element. | Kim SW et al. | β | 2026 | β |
| Mendelian randomization study of GLP-1R effects on ovarian cancer subtypes mediated by metabolic factors. | Liu J et al. | β | 2026 | β |
| Relevance of polymorphisms in TLR2/4 genes and their association with plasma cytokines for schizophrenia. | Patlola SR et al. | β | 2026 | β |
| The ChickenGTEx portal: a pan-tissue catalogue of regulatory variants shaping transcriptomic and phenotypic diversity. | Hou Y et al. | β | 2026 | β |
| The Impact of Genome-wide Histocompatibility on Liver Transplantation Outcomes. | Semenova M et al. | β | 2026 | β |
| A biobank-scale test of marginal epistasis reveals genome-wide signals of polygenic interaction effects. | Fu B et al. | β | 2025 | β |
| Adaptive <i>PRKAA1</i> variant in Andeans is associated with improved ventilation and sleep phenotypes. | Lawrence ES et al. | β | 2025 | β |
| A Genome-Wide Association Study in Psoriasis Patients Reveals Variants Associated with Response to Treatment with Interleukin-17A Pathway Inhibitors. | Ioakeimidou D et al. | β | 2025 | β |
| A genome-wide cross-trait analysis characterizes the shared genetic architecture between lung and gastrointestinal diseases. | You D et al. | β | 2025 | β |
| A genome-wide scan of non-coding RNAs and enhancers for refractive error and myopia. | Tedja MS et al. | β | 2025 | β |
| Allele-Specific Methylation Links Non-coding Variant of rs2280906 to MYOM2 Regulation in Schizophrenia. | Li Q et al. | β | 2025 | β |
| An <i>in vivo</i> systemic massively parallel platform for deciphering animal tissue-specific regulatory function. | Brown AR et al. | β | 2025 | β |
| A Phenome-Wide Mendelian Randomization and Colocalization Study Reveals Genetic Association Between PBC and Other Autoimmune Disorders. | Shi S et al. | β | 2025 | β |
| A Specific Haplotype of the <i>MMP2</i> Gene Promoter May Increase the Risk of Developing Cerebral Palsy. | Djuranovic Uklein A et al. | β | 2025 | β |
| Association Between Genetic Variants in <i>TNF</i>, <i>IL6</i>, and <i>IL1B</i> Genes and Severity of COVID-19: A Cross-Sectional Study of Patients from Southern Brazil. | Feira MF et al. | β | 2025 | β |
| Association between the rs1800624 and rs80096349 SNPs and diabetic retinopathy: a pilot study. | Alnaji HA et al. | β | 2025 | β |
| Association of ZNF608 Polymorphisms With House Dust Mite-Induced Allergic Rhinitis. | Li H et al. | β | 2025 | β |
| Bioinformatic analysis of the regulatory potential of tagging SNPs provides evidence of the involvement of genes encoding the heat-resistant obscure (Hero) proteins in the pathogenesis of cardiovascular diseases. | Shilenok VV et al. | β | 2025 | β |
| Can classical statistics and deep learning converge on explainable, causally driven target discovery? | Chen L | β | 2025 | β |
| Cis-Regulation of an m<sup>6</sup>A Eraser by an Insertion Variant Associated with Survival of Patients With Non-Small Cell Lung Carcinoma. | Cheng L et al. | β | 2025 | β |
| Clinical, laboratory and genetic factors associated with smoking in a Brazilian Sickle Cell Disease (SCD) cohort. | Cruz T et al. | β | 2025 | β |
| Common Genetic Variants in <i>TRIO</i> Are Associated With Autism in Chinese Han Population. | Shen H et al. | β | 2025 | β |
| Common <i>cis</i>-regulatory variation modifies the penetrance of pathogenic <i>SHROOM3</i> variants in craniofacial microsomia. | Zhu H et al. | β | 2025 | β |
| Context-specific eQTLs provide deeper insight into causal genes underlying shared genetic architecture of COVID-19 and idiopathic pulmonary fibrosis. | Dalapati T et al. | β | 2025 | β |
| Cumulative evidence for associations between variants in the histone deacetylases genes and cardio-cerebrovascular diseases: A systematic review and meta-analysis. | Gu D et al. | β | 2025 | β |
| Deciphering mechanisms leading to preterm birth through post-GWAS integration of multi-omics data. | Bhattacharjee E et al. | β | 2025 | β |
| Disease-linked regulatory DNA variants and homeostatic transcription factors in epidermis. | Porter DF et al. | β | 2025 | β |
| Erratum to "The HOTTIP (HOXA transcript at the distal tip) lncRNA: Review of oncogenic roles in human" [Biomed. Pharmacother. 127(2020) 110158]. | Ghafouri-Fard S et al. | β | 2025 | β |
| Exploring the genetic influence on hair cortisol concentration: Genetic association of rs11621961 on SERPINA6/1 locus in the 2004 Pelotas Birth Cohort (Brazil). | Camerini L et al. | β | 2025 | β |
| Expression profile of the ADHD risk gene <i>ADGRL3</i> during human neurodevelopment and the effects of genetic variation. | McNeill RV et al. | β | 2025 | β |
| Functional analysis of cancer-associated germline risk variants. | Kellman LN et al. | β | 2025 | β |
| Functional and Practical Insights Into the Genetic Basis of Takayasu Arteritis. | Casares-Marfil D et al. | β | 2025 | β |
| G6PC2 controls glucagon secretion by defining the set point for glucose in pancreatic Ξ± cells. | Bahl V et al. | β | 2025 | β |
| Genes Encoding Heat Shock Proteins Are Associated with Risk and Clinical Course of Severe COVID-19: A Pilot Study. | Karpenko AR et al. | β | 2025 | β |
| Genetic architecture of primary biliary cholangitis: strong evidence for HLA and non-HLA risk loci. | Zhang M et al. | β | 2025 | β |
| Genetic Crosstalk Between Type 1 Diabetes and SjΓΆgren's Syndrome: A Systematic Exploration of Risk Genes and Common Pathways. | Fahira A et al. | β | 2025 | β |
| Genetic Loci Associated with Nail Plate MorphologyΒ in East Asian Populations. | Ge J et al. | β | 2025 | β |
| Genetic overlap and causality between depression and preterm birth: a large-scale genome-wide cross-trait analysis. | Zhang M et al. | β | 2025 | β |
| Genetic polymorphisms associated with metabolic dysfunction-associated steatotic liver disease and cardiometabolic risk susceptibility in the Chinese Han population. | Dai M et al. | β | 2025 | β |
| Genetic susceptibility and validation of angiographic patterns in Takayasu arteritis. | Casares-Marfil D et al. | β | 2025 | β |
| Genetic variants and haplotype structures of miRNA host genes in cancer and obesity. | Gholami M | β | 2025 | β |
| Genetic Variants in Genes Related to Lung Function and Interstitial Lung Diseases Are Associated with Worse Outcomes in Severe COVID-19 and Lung Performance in the Post-COVID-19 Condition. | Fricke-Galindo I et al. | β | 2025 | β |
| Genetic variants in HSP40 co-chaperones modulate ischemic heart disease risk. | Polshvedkina O et al. | β | 2025 | β |
| Genetic Variants of <i>UGP2</i> and <i>FBP2</i> in the Glycolysis Pathway Independently Predict Survival of Patients with HBV-Related Hepatocellular Carcinoma. | Gong R et al. | β | 2025 | β |
| Genetic variations in interleukin-17 gene: a review on SNP rs2275913 and its clinical implications. | Khatonier R et al. | β | 2025 | β |
| Genome-Wide Association Analyses of HPV16 and HPV18 Seropositivity Identify Susceptibility Loci for Cervical Cancer. | Beckhaus T et al. | β | 2025 | β |
| Genome-wide association study identifies <i>ABCG1</i> as a susceptibility locus for tick-borne encephalitis. | Gampawar PG et al. | β | 2025 | β |
| Genome-wide association study of myocarditis and pericarditis following COVID-19 vaccination. | Cavalli M et al. | β | 2025 | β |
| Genome-wide association study on overweight in Brazilian children with asthma: Old stories and new discoveries. | Melo APC et al. | β | 2025 | β |
| Genome-wide functional annotation of variants: a systematic review of state-of-the-art tools, techniques and resources. | Pilalis E et al. | β | 2025 | β |
| Genome-wide interaction association analysis identifies interactive effects of childhood maltreatment and kynurenine pathway on depression. | Sun Y et al. | β | 2025 | β |
| Genomic determinants of biological age estimated by deep learning applied to retinal images. | Huang Y et al. | β | 2025 | β |
| Gout Risk Allele Regulating <i>IRF5</i> Expression Is Associated with Enhanced IL-1Ξ² Production in Response to Palmitate and Monosodium Urate Crystals. | Nica V et al. | β | 2025 | β |
| HMGCR genetic variability in Parkinson's disease in a Spanish cohort: associations with lipid metabolism and early onset. | DΓaz-Belloso R et al. | β | 2025 | β |
| Identification of 1q25.2 as a novel shared locus between schizophrenia and major depressive disorder in east Asians by integrative analyses. | Guo X et al. | β | 2025 | β |
| Identification of Schizophrenia-Risk Regulatory Variant rs1399178 in the Non-coding Region With Its Impact on NRF1 Binding. | Ji L et al. | β | 2025 | β |
| Improving genetic variant identification for quantitative traits using ensemble learning-based approaches. | Sharma J et al. | β | 2025 | β |
| Integrative analysis of m6A-SNPs and single-cell RNA sequencing reveals key drivers of endocrine combined with CDK4/6 inhibitor therapy resistance in ER+ breast cancer. | Ming R et al. | β | 2025 | β |
| Investigating the pathogenic potential of PKC-eta UTR variants in cancer progression. | Hussain T et al. | β | 2025 | β |
| <i>NOS3</i> rs3918188C>A is associated with susceptibility to resistant hypertension while <i>CES1</i> genetic variation was not associated with resistant hypertension among South Africans. | Katsukunya JN et al. | β | 2025 | β |
| Meta-analysis and in-silico functional characterization of the SNCA variant rs356220 in Parkinson's disease. | Menon S et al. | β | 2025 | β |
| Molecular determinants of thrombosis recurrence risk across venous thromboembolism subtypes. | Munsch G et al. | β | 2025 | β |
| Multi-ancestry whole genome sequencing analysis of lean body mass. | Zhang X et al. | β | 2025 | β |
| Novel genetic structures associated with adverse response to chemotherapy in breast cancer. | Gholami M et al. | β | 2025 | β |
| Novel rare variation of CCDC40 plays a role in the development of idiopathic scoliosis possibly via dysfunction of cilia motility. | Xu L et al. | β | 2025 | β |
| Novel Variants of IGF2 Gene Are Linked With Neural Tube Defects-An In Silico to Clinical Approach in West Bengal, India. | Paul N et al. | β | 2025 | β |
| Pharmacogenetic associations of GATA4 and KCNQ1 with ibrutinib cardiovascular toxicity. | Nugent KI et al. | β | 2025 | β |
| Pharmacogenetics of obsessive-compulsive disorder: Investigations of intragenic and regulatory region genetic variations. | Zai G et al. | β | 2025 | β |
| PRED-LD: efficient imputation of GWAS summary statistics. | Manios GA et al. | β | 2025 | β |
| Recent Advances in Experimental Functional Characterization of GWAS Candidate Genes in Osteoporosis. | MalavaΕ‘iΔ P et al. | β | 2025 | β |
| Refining antipsychotic treatment strategies in schizophrenia: discovery of genetic biomarkers for enhanced drug response prediction. | Chen L et al. | β | 2025 | β |
| Regulatory roles of rs2192932 and rs10487150 in autism spectrum disorder: insights from fine-mapping and cross-population validation. | Zhao S et al. | β | 2025 | β |
| Rethinking GWAS: how lessons from genetic screens and artificial intelligence could reveal biological mechanisms. | Hazelett DJ | β | 2025 | β |
| "SERBP1 (Hero45) is a Novel Link with Ischemic Heart Disease Risk: Associations with Coronary Arteries Occlusion, Blood Coagulation and Lipid Profile". | Shilenok V et al. | β | 2025 | β |
| The First Evidence for the Role of ACVR2A Gene Fetal Genotype in Preeclampsia Susceptibility. | Honarpour A et al. | β | 2025 | β |
| The Genomics/Genetics of Primary Biliary Cholangitis: The Case for a Functional SNP rs10893900 in ETS1/FLI1 and Review of the Literature. | Zhang M et al. | β | 2025 | β |
| Toll-like Receptor Gene Polymorphisms as Predictive Biomarkers for Response to Infliximab in Japanese Patients with Crohn's Disease. | Wei J et al. | β | 2025 | β |
| Trans-ancestry transcriptome-wide association and functional studies to uncover novel susceptibility genes and therapeutic targets for colorectal cancer. | Wang L et al. | β | 2025 | β |
| Translational genomics of osteoarthritis in 1,962,069 individuals. | Hatzikotoulas K et al. | β | 2025 | β |
| Understanding Atopic Dermatitis in Asian and European Population Cohorts Using Complementary Omics Techniques. | Yew YW et al. | β | 2025 | β |
| Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders. | Metz S et al. | β | 2025 | β |
| A functional variant rs912304 for late-onset T1D risk contributes to islet dysfunction by regulating proinflammatory cytokine-responsive gene STXBP6 expression. | Qian Y et al. | β | 2024 | β |
| A genome-wide association meta-analysis of all-cause and vascular dementia. | Mega Vascular Cognitive Impairment and Dementia (MEGAVCID) consortium | β | 2024 | β |
| A genome-wide association study identifies a locus associated with knee extension strength in older Japanese individuals. | Ito S et al. | β | 2024 | β |
| A Genome-Wide Association Study Suggests New Susceptibility Loci for Primary Antiphospholipid Syndrome. | Casares-Marfil D et al. | β | 2024 | β |
| Androgen receptor-mediated pharmacogenomic expression quantitative trait loci: implications for breast cancer response to AR-targeting therapy. | Gao H et al. | β | 2024 | β |
| A novel locus in <i>CSMD1</i> gene is associated with increased susceptibility to severe malaria in Malian children. | Damena D et al. | β | 2024 | β |
| Association between thermogenic brown fat and genes under positive natural selection in circumpolar populations. | Ishida Y et al. | β | 2024 | β |
| Association Between the rs13306703 and rs8192288 Variants of the <i>SOD3</i> Gene and Breast Cancer and an In Silico Analysis of the Variants' Impact. | Gallegos-Arreola MP et al. | β | 2024 | β |
| Association of CCR6 functional polymorphisms with Primary Biliary Cholangitis. | Zhang M et al. | β | 2024 | β |
| Chromatin and transcription in Nucleic Acids Research: the first 50 years. | Defossez PA | β | 2024 | β |
| Combined Genetic Association and Differed Expression Analysis of <i>UBE2L3</i> Uncovers a Genetic Regulatory Role of (Immuno)proteasome in IgA Nephropathy. | Xu LL et al. | β | 2024 | β |
| Decoding the genetic landscape of juvenile dermatomyositis: insights from phosphorylation-associated single nucleotide polymorphisms. | Zhang H et al. | β | 2024 | β |
| Enhancer-promoter activation by the Kaposi sarcoma-associated herpesvirus episome maintenance protein LANA. | Ye X et al. | β | 2024 | β |
| Fine-scale mapping of chromosome 9q22.33 identifies candidate causal variant in ovarian cancer. | Xing T et al. | β | 2024 | β |
| FTO is a major genetic link between breast cancer, obesity, and diabetes. | Gholami M | β | 2024 | β |
| Functional Genomics and Insights into the Pathogenesis and Treatment of Psoriasis. | Shellard EM et al. | β | 2024 | β |
| Gene polymorphisms of TACR1 serve as the potential pharmacogenetic predictors of response to the neurokinin-1 receptor antagonist-based antiemetic regimens: a candidate-gene association study in breast cancer patients. | Ghorbani M et al. | β | 2024 | β |
| Genetic associations between gene polymorphisms on 3p25 and oral squamous cell carcinoma. | Yuan M et al. | β | 2024 | β |
| Genetic evidence for involvement of Ξ²2-adrenergic receptor in brown adipose tissue thermogenesis in humans. | Ishida Y et al. | β | 2024 | β |
| Genetic Polymorphisms in Exon 5 and Intron 5 and 7 of <i>AIRE</i> Are Associated with Rheumatoid Arthritis Risk in a Hungarian Population. | BΓ©rczi B et al. | β | 2024 | β |
| Genetic predisposition of <i>BMP7</i> polymorphisms to lumbar disk herniation in the Chinese Han population. | Sun K et al. | β | 2024 | β |
| Genetic Variants and Haplotype Structures in the <i>CASC</i> Gene Family to Predict Cancer Risk: A Bioinformatics Study. | Gholami M et al. | β | 2024 | β |
| Genetic Variants Associated with Sweat Gland Phenotypes in 6210 Han Chinese Individuals. | Chen W et al. | β | 2024 | β |
| Genetic variation near GRB10 associated with bone growth and osteosarcoma risk in canine and human populations. | Lucas SE et al. | β | 2024 | β |
| Genome-wide association study of nausea and vomiting during pregnancy in Japan: the TMM BirThree Cohort Study. | Yonezawa Y et al. | β | 2024 | β |
| Genome-wide exploration of genetic interactions for bladder cancer risk. | Yu EY et al. | β | 2024 | β |
| Genome-wide identification of cell type-specific susceptibility genes for Juvenile dermatomyositis through the analysis of N<sup>6</sup>-methyladenosine-associated SNPs. | Zhang H et al. | β | 2024 | β |
| Genomic determinants of antibody response to a typhoid vaccine in Indian recipients. | Roy VL et al. | β | 2024 | β |
| GWAS for systemic sclerosis identifies six novel susceptibility loci including one in the FcΞ³ receptor region. | Ishikawa Y et al. | β | 2024 | β |
| GWAS-Identified Loci are Associated with Obesity and Type 2 Diabetes Mellitus in Patients with Severe COVID-19. | Loktionov A et al. | β | 2024 | β |
| GWAS-significant loci and severe COVID-19: analysis of associations, link with thromboinflammation syndrome, gene-gene, and gene-environmental interactions. | Loktionov AV et al. | β | 2024 | β |
| <i>C11orf58</i> (Hero20) Gene Polymorphism: Contribution to Ischemic Stroke Risk and Interactions with Other Heat-Resistant Obscure Chaperones. | Shilenok I et al. | β | 2024 | β |
| Identification of candidate causal variants and target genes at 41 breast cancer risk loci through differential allelic expression analysis. | Xavier JM et al. | β | 2024 | β |
| IL18 rs360717 and rs187238 genetic variants are associated with migraine diagnosis. | Vitali-Silva A et al. | β | 2024 | β |
| Impact of Interleukin-17 Receptor A Gene Variants on Asthma Susceptibility and Clinical Manifestations in Children and Adolescents. | Maher SA et al. | β | 2024 | β |
| Independent association of general and central adiposity with risk of gallstone disease: observational and genetic analyses. | Zhang M et al. | β | 2024 | β |
| <i>TBX5</i> genetic variants and SCD-CAD susceptibility: insights from Chinese Han cohorts. | Rui Y et al. | β | 2024 | β |
| <i>TMEM132C</i> rs7296262 Single-Nucleotide Polymorphism Is Significantly Associated with Nausea Induced by Opioids Administered for Cancer Pain and Postoperative Pain. | Kang Y et al. | β | 2024 | β |
| LOGOWheat: deep learning-based prediction of regulatory effects for noncoding variants in wheats. | Kong L et al. | β | 2024 | β |
| <i>KLF2</i> enhancer variant rs4808485 increases lupus risk by modulating inflammasome machinery and cellular homoeostasis. | Singh MK et al. | β | 2024 | β |
| Multi-tissue transcriptome-wide association studies identified 235 genes for intrinsic subtypes of breast cancer. | Li JL et al. | β | 2024 | β |
| Novel genetic association between obesity, colorectal cancer, and inflammatory bowel disease. | Gholami M | β | 2024 | β |
| Novel loci for ocular axial length identified through extreme-phenotype genome-wide association study in Chinese populations. | Han X et al. | β | 2024 | β |
| Obesity and Environmental Risk Factors Significantly Modify the Association between Ischemic Stroke and the Hero Chaperone <i>C19orf53</i>. | Shilenok I et al. | β | 2024 | β |
| Pharmacogenetic and clinical risk factors for bevacizumab-related gastrointestinal hemorrhage in prostate cancer patients treated on CALGB 90401 (Alliance). | Patel JN et al. | β | 2024 | β |
| Polymorphism in Genes Encoding HSP40 Family Proteins is Associated with Ischemic Stroke Risk and Brain Infarct Size: A Pilot Study. | Kobzeva KA et al. | β | 2024 | β |
| Potentially functional genetic variants in ferroptosis-related CREB3 and GALNT14 genes predict survival of hepatitis B virus-related hepatocellular carcinoma. | Zhan S et al. | β | 2024 | β |
| Prevalence of the genetic variant rs61330082 and serum levels of the visfatin gene in Mexican individuals with metabolic syndrome: a clinical and bioinformatics approach. | GonzΓ‘lez-SΓ‘nchez GD et al. | β | 2024 | β |
| Primary osteoarthritis chondrocyte map of chromatin conformation reveals novel candidate effector genes. | Bittner N et al. | β | 2024 | β |
| Protocol to search for genetic factors related to severe COVID-19 by analyzing publicly available genome-wide association studies. | Zhang K et al. | β | 2024 | β |
| Regression convolutional neural network models implicate peripheral immune regulatory variants in the predisposition to Alzheimer's disease. | Ramamurthy E et al. | β | 2024 | β |
| Replication Study of the Association of <i>GAS6</i> and <i>PROS1</i> Polymorphisms with BehΓ§et's Disease in a Japanese Population. | Teshigawara T et al. | β | 2024 | β |
| Sequence-to-expression approach to identify etiological non-coding DNA variations in P53 and cMYC-driven diseases. | Kin K et al. | β | 2024 | β |
| Shared genetics and causal association between plasma levels of SARS-CoV-2 entry receptor ACE2 and Alzheimer's disease. | Zhang Y et al. | β | 2024 | β |
| Targeted Variant Assessments of Human Endogenous Retroviral Regions in Whole Genome Sequencing Data Reveal Retroviral Variants Associated with Papillary Thyroid Cancer. | Stricker E et al. | β | 2024 | β |
| The 330 risk loci known for systemic lupus erythematosus (SLE): a review. | Laurynenka V et al. | β | 2024 | β |
| The genetic variant SLC2A1 -rs1105297 is associated with the differential analgesic response to a glucose-based treatment in newborns. | Farinella R et al. | β | 2024 | β |
| The role of IL10 and IL17 gene polymorphisms in treatment response in children and adolescents with severe asthma. | Vieira MIR et al. | β | 2024 | β |
| Transcriptomic Insights into the Atrial Fibrillation Susceptibility Locus near the <i>MYOZ1</i> and <i>SYNPO2L</i> Genes. | Wass SY et al. | β | 2024 | β |
| Unraveling interindividual variation of trimethylamine <i>N</i>-oxide and its precursors at the population level. | Andreu-SΓ‘nchez S et al. | β | 2024 | β |
| Unveiling blood pressure-associated genes in aortic cells through integrative analysis of GWAS and RNA modification-associated variants. | Zhang H et al. | β | 2024 | β |
| Validation and functional follow-up of cervical cancer risk variants at the HLA locus. | EisenblΓ€tter R et al. | β | 2024 | β |
| Variant Impact Predictor database (VIPdb), version 2: trends from three decades of genetic variant impact predictors. | Lin YJ et al. | β | 2024 | β |
| VEGFA gene variants are associated with breast cancer progression. | Furriol J et al. | β | 2024 | β |
| AgingReG: a curated database ofΒ aging regulatory relationships inΒ humans. | Piao M et al. | β | 2023 | β |
| Analysis of MIR27A (rs11671784) Variant Association with Systemic Lupus Erythematous. | Khired ZA et al. | β | 2023 | β |
| A regulatory variant at 19p13.3 is associated with primary biliary cholangitis risk and ARID3A expression. | Li Y et al. | β | 2023 | β |
| Association between a polymorphic variant in the CDKN2B-AS1/ANRIL gene and pancreatic cancer risk. | Giaccherini M et al. | β | 2023 | β |
| Association between <i>HSPA8</i> Gene Variants and Ischemic Stroke: A Pilot Study Providing Additional Evidence for the Role of Heat Shock Proteins in Disease Pathogenesis. | Kobzeva KA et al. | β | 2023 | β |
| Association between <i>NLRP3 rs10754558</i> and <i>CARD8 rs2043211</i> Variants and Susceptibility to Chronic Kidney Disease. | La Russa A et al. | β | 2023 | β |
| Associations between telomere attrition, genetic variants in telomere maintenance genes, and non-small cell lung cancer risk in the Jammu and Kashmir population of North India. | Bhat GR et al. | β | 2023 | β |
| Atopic Polygenic Risk Score Is Associated with Paradoxical Eczema Developing in Patients with Psoriasis Treated with Biologics. | Al-Janabi A et al. | β | 2023 | β |
| BDNF Levels According to Variations in the CACNA1C Gene: Sex-Based Disparity. | Bastos CR et al. | β | 2023 | β |
| Causal association of genetically determined circulating vitamin D metabolites and calcium with multiple sclerosis in participants of European descent. | Zhang Y et al. | β | 2023 | β |
| Celiac Disease Is a Risk Factor for Mature T and NK Cell Lymphoma: A Mendelian Randomization Study. | MartΓn-Masot R et al. | β | 2023 | β |
| Common inherited variants of PDCD1, CD274 and HAVCR2 genes differentially modulate the risk and prognosis of adenocarcinoma and squamous cell carcinoma. | Moksud N et al. | β | 2023 | β |
| Common Variants on <i>FGD5</i> Increase Hazard of Mortality or Rehospitalization in Patients With Heart Failure From the ASCEND-HF Trial. | Gui H et al. | β | 2023 | β |
| Decoding the genetic and epigenetic basis of asthma. | Stikker BS et al. | β | 2023 | β |
| DNA Double-Strand Break Response and Repair Gene Polymorphisms May Influence Therapy Results and Prognosis in Head and Neck Cancer Patients. | Butkiewicz D et al. | β | 2023 | β |
| Exploring the genetic basis of coronary artery disease using functional genomics. | LΓ³pez RodrΓguez M et al. | β | 2023 | β |
| Gene-educational attainment interactions in a multi-population genome-wide meta-analysis identify novel lipid loci. | de las Fuentes L et al. | β | 2023 | β |
| Gene-Environment Analyses Reveal Novel Genetic Candidates with Prenatal Tobacco Exposure in Relation to Risk for Childhood Acute Lymphoblastic Leukemia. | Zhong C et al. | β | 2023 | β |
| Gene-Level Analysis of Anthracycline-Induced CardiomyopathyΒ in Cancer Survivors: A Report From COG-ALTE03N1, BMTSS, and CCSS. | Sharafeldin N et al. | β | 2023 | β |
| Genetic and Gene Expression Resources for Osteoporosis and Bone Biology Research. | Kaya S et al. | β | 2023 | β |
| Genetic Association and Differential RNA Expression of Histone (De)Acetylation-Related Genes in Pemphigus Foliaceus-A Possible Epigenetic Effect in the Autoimmune Response. | Sulzbach Denardin M et al. | β | 2023 | β |
| Genetic insights into ossification of the posterior longitudinal ligament of the spine. | Koike Y et al. | β | 2023 | β |
| Genetic polymorphisms of bone marrow stromal cell antigen-1 (BST-1/CD157): implications for immune/inflammatory dysfunction in neuropsychiatric disorders. | Yokoyama S | β | 2023 | β |
| Genetic predisposition may not improve prediction of cardiac surgery-associated acute kidney injury. | Douville NJ et al. | β | 2023 | β |
| Genetic regulators of sputum mucin concentration and their associations with COPD phenotypes. | Van Buren E et al. | β | 2023 | β |
| Genetic variants in RNA m<sup>5</sup> C modification genes associated with survival and chemotherapy efficacy of colorectal cancer. | Chen S et al. | β | 2023 | β |
| Genetic Variations Within METTL16 and Susceptibility to Sudden Cardiac Death in Chinese Populations With Coronary Artery Disease. | Zhen X et al. | β | 2023 | β |
| Genome-wide association analysis identifies a susceptibility locus for sporadic vestibular schwannoma at 9p21. | Sadler KV et al. | β | 2023 | β |
| Genome-Wide Association Analysis of Protein-Coding Variants in IgA Nephropathy. | Li M et al. | β | 2023 | β |
| Genome-wide association and multi-omics studies identify MGMT as a novel risk gene for Alzheimer's disease among women. | Chung J et al. | β | 2023 | β |
| Genome-Wide Association Study Identifies Genetic Polymorphisms Associated with Estimated Minimum Effective Concentration of Fentanyl in Patients Undergoing Laparoscopic-Assisted Colectomy. | Nishizawa D et al. | β | 2023 | β |
| Genome-Wide Association Study Identifies Novel Candidate Variants Associated with Postoperative Nausea and Vomiting. | Nishizawa D et al. | β | 2023 | β |
| Genome-wide association study on pharmacological outcomes of musculoskeletal pain in UK Biobank. | Li S et al. | β | 2023 | β |
| Genome-wide identification of RNA modification-related single nucleotide polymorphisms associated with rheumatoid arthritis. | Wang M et al. | β | 2023 | β |
| Genome-Wide Meta-Analysis Identifies Multiple Novel Rare Variants to Predict Common Human Infectious Diseases Risk. | GelemanoviΔ A et al. | β | 2023 | β |
| Genomic study of maternal lipid traits in early pregnancy concurs with four known adult lipid loci. | Ouidir M et al. | β | 2023 | β |
| Germline genetic variants and pediatric rhabdomyosarcoma outcomes: a report from the Children's Oncology Group. | Martin-Giacalone BA et al. | β | 2023 | β |
| High-throughput screening of glucocorticoid-induced enhancer activity reveals mechanisms of stress-related psychiatric disorders. | Penner-Goeke S et al. | β | 2023 | β |
| Identification of a weight loss-associated causal eQTL in <i>MTIF3</i> and the effects of <i>MTIF3</i> deficiency on human adipocyte function. | Huang M et al. | β | 2023 | β |
| Identification of Novel Intronic SNPs in Transporter Genes Associated with Metformin Side Effects. | Schweighofer N et al. | β | 2023 | β |
| Identification of putative regulatory single-nucleotide variants in NTN1 gene associated with NSCL/P. | Tao HX et al. | β | 2023 | β |
| Identification of regulatory variants of carboxylesterase 1 (CES1): A proof-of-concept study for the application of the Allele-Specific Protein Expression (ASPE) assay in identifying cis-acting regulatory genetic polymorphisms. | Her L et al. | β | 2023 | β |
| Identification of specific susceptibility loci for the early-onset colorectal cancer. | Wang H et al. | β | 2023 | β |
| IGF1 and Insulin Receptor Single Nucleotide Variants Associated with Response in HER2-Negative Breast Cancer Patients Treated with Neoadjuvant Chemotherapy with or without a Fasting Mimicking Diet (BOOG 2013-04 DIRECT Trial). | de Gruil N et al. | β | 2023 | β |
| Impact of <i>NOTCH1</i> polymorphisms on liver cancer in a Chinese Han population. | Wang B et al. | β | 2023 | β |
| Independent Associated SNPs at SORCS3 and Its Protein Interactors for Multiple Brain-Related Disorders and Traits. | Kamran M et al. | β | 2023 | β |
| Insights into the genetics of menopausal vasomotor symptoms: genome-wide analyses of routinely-collected primary care health records. | Ruth KS et al. | β | 2023 | β |
| Integrative Genomic Analysis of m6a-SNPs Identifies Potential Functional Variants Associated with Alzheimer's Disease. | Jan SM et al. | β | 2023 | β |
| <i>ONECUT1</i> variants beyond type 1 and type 2 diabetes: exploring clinical diversity and epigenetic associations in Arab cohorts. | Dashti M et al. | β | 2023 | β |
| MiRNAs in Hematopoiesis and Acute Lymphoblastic Leukemia. | Mendiola-Soto DK et al. | β | 2023 | β |
| Mitochondrial TXNRD2 and ME3 Genetic Risk Scores Are Associated with Specific Primary Open-Angle Glaucoma Phenotypes. | Aboobakar IF et al. | β | 2023 | β |
| MTMR3 risk alleles enhance Toll Like Receptor 9-induced IgA immunity in IgA nephropathy. | Wang YN et al. | β | 2023 | β |
| Multi-Omics Studies in Historically Excluded Populations: The Road to Equity. | Yang G et al. | β | 2023 | β |
| Multitissue H3K27ac profiling of GTEx samples links epigenomic variation to disease. | Hou L et al. | β | 2023 | β |
| Multi-trait discovery and fine-mapping of lipid loci in 125,000 individuals of African ancestry. | Kamiza AB et al. | β | 2023 | β |
| Obesity impacts the expression of Alzheimer's disease-related genes: The Framingham Heart Study. | Charisis S et al. | β | 2023 | β |
| PDE4D gene variants and haplotypes are associated with asthma and atopy in Brazilian children. | Silva HDS et al. | β | 2023 | β |
| Polygenic contributions to performance on the Balloon Analogue Risk Task. | Nurmi EL et al. | β | 2023 | β |
| Polymorphism in interferon alpha/beta receptor contributes to glucocorticoid response and outcome of ARDS and COVID-19. | Jalkanen J et al. | β | 2023 | β |
| Potentially Functional Genetic Variants in the NRF2 Signaling Pathway Genes are Associated With HBV-related Hepatocellular Carcinoma Survival. | Gong R et al. | β | 2023 | β |
| Predicting functional consequences of SNPs on mRNA translation via machine learning. | Li Z et al. | β | 2023 | β |
| Prioritization of Drug Targets for Neurodegenerative Diseases by Integrating Genetic and Proteomic Data From Brain and Blood. | Ge YJ et al. | β | 2023 | β |
| Reappraising the role of chronic inflammatory burden in heart failure. | Lin X et al. | β | 2023 | β |
| Reduced Vrk2 expression is associated with higher risk of depression in humans and mediates depressive-like behaviors in mice. | Yin MY et al. | β | 2023 | β |
| Regulatory variants of APOBEC3 genes potentially associate with COVID-19 severity in populations with African ancestry. | Zhang K et al. | β | 2023 | β |
| Secreted Protein Acidic and Rich in Cysteine (<i>SPARC)</i> Polymorphisms in Response to Neoadjuvant Chemotherapy in HER2-Negative Breast Cancer Patients. | Arqueros C et al. | β | 2023 | β |
| SERPINE1 mRNA Binding Protein 1 Is Associated with Ischemic Stroke Risk: A Comprehensive Molecular-Genetic and Bioinformatics Analysis of <i>SERBP1</i> SNPs. | Shilenok I et al. | β | 2023 | β |
| Shared genetics of psychiatric disorders and type 2 diabetes:a large-scale genome-wide cross-trait analysis. | Ding H et al. | β | 2023 | β |
| The association of genetic factors with serum calretinin levels in asbestos-related diseases. | Zupanc C et al. | β | 2023 | β |
| The Parkinson's disease variant rs356182 regulates neuronal differentiation independently from alpha-synuclein. | Prahl JD et al. | β | 2023 | β |
| The rs2601796 variant in ADCY9 gene is associated with severe asthma and less bronchodilator response. | Teixeira HMP et al. | β | 2023 | β |
| Using human genetics to improve safety assessment of therapeutics. | Carss KJ et al. | β | 2023 | β |
| Whole genome sequencing and inheritance-based variant filtering as a tool for unraveling missing heritability in pediatric cancer. | Derpoorter C et al. | β | 2023 | β |
| Whole-genome sequencing reveals an association between small genomic deletions and an increased risk of developing Parkinson's disease. | Oh JH et al. | β | 2023 | β |
| Additive genetic effect of GCKR, G6PC2, and SLC30A8 variants on fasting glucose levels and risk of type 2 diabetes. | Chen G et al. | β | 2022 | β |
| Admixture Mapping of Sepsis in European Individuals With African Ancestries. | Hernandez-Beeftink T et al. | β | 2022 | β |
| A functional population-specific variant rs77416373 in the Ca<sub>V</sub>2.1 gene is associated with antidepressant treatment response in Han Chinese subjects with major depressive disorder. | Zhang Y et al. | β | 2022 | β |
| A genome-wide association analysis: m6A-SNP related to the onset of oral ulcers. | Wu Z et al. | β | 2022 | β |
| A genome-wide association study of germline variation and melanoma prognosis. | Chat V et al. | β | 2022 | β |
| A GWAS Finds Variants at 2p21 Associated with Self-Reported Sensitive Skin in the Han Chinese Population. | Li B et al. | β | 2022 | β |
| A Large-Scale Genome-Wide Gene-Gene Interaction Study of Lung Cancer Susceptibility in Europeans With a Trans-Ethnic Validation in Asians. | Zhang R et al. | β | 2022 | β |
| Allelic expression imbalance of PIK3CA mutations is frequent in breast cancer and prognostically significant. | Correia L et al. | β | 2022 | β |
| A Missense Variant in <i>COMT</i> Associated with Hearing Loss among Young Adults: The National Longitudinal Study of Adolescent to Adult Health (Add Health). | Li CM et al. | β | 2022 | β |
| A multi-phenotype analysis reveals 19 novel susceptibility loci for basal cell carcinoma and 15 for squamous cell carcinoma | Seviiri M et al. | β | 2022 | β |
| Analysis of DNMT1 gene variants in progression of neural tube defects-an in silico to in vitro approach. | Sadhukhan S et al. | β | 2022 | β |
| Analysis of Nuclear Receptor Coactivator 5 <i>(NCOA5)</i> Messenger RNA Expression and rs2903908 Single Nucleotide Polymorphism of <i>NCOA5</i> in an Egyptian Cohort with BehΓ§et's Disease: A Single-Center Case-control Study. | Koptan DMT et al. | β | 2022 | β |
| An Evolutionary Insight Into the Heterogeneous Severity Pattern of the SARS-CoV-2 Infection. | Raza RZ et al. | β | 2022 | β |
| Association and epistatic analysis of white matter related genes across the continuum schizophrenia and autism spectrum disorders: The joint effect of NRG1-ErbB genes. | Prats C et al. | β | 2022 | β |
| Association between genetic variants of microRNA-21 and microRNA-155 and systemic lupus erythematosus: A case-control study from a Chinese population. | Wang R et al. | β | 2022 | β |
| Association of CYP19A1 rs28757157 polymorphism with lung cancer risk in the Chinese Han population. | Zhang C et al. | β | 2022 | β |
| Association of FBN1 polymorphism with susceptibility of adolescent idiopathic scoliosis: a case-control study. | de Azevedo GBL et al. | β | 2022 | β |
| Associations between the <i>C3orf20</i> rs12496846 Polymorphism and Both Postoperative Analgesia after Orthognathic and Abdominal Surgeries and <i>C3orf20</i> Gene Expression in the Brain. | Nishizawa D et al. | β | 2022 | β |
| Associations of RPEL1 and miR-1307 gene polymorphisms with disease susceptibility, glucocorticoid efficacy, anxiety, depression, and health-related quality of life in Chinese systemic lupus erythematosus patients. | Yan ZY et al. | β | 2022 | β |
| Association Study between Polymorphisms in DNA Methylation-Related Genes and Testicular Germ Cell Tumor Risk. | Grasso C et al. | β | 2022 | β |
| Autotaxin is a potential link between genetic risk factors and immunological disturbances of plasmacytoid dendritic cells in systematic lupus erythematosus. | Tsuchida Y et al. | β | 2022 | β |
| Beta-Meta: a meta-analysis application considering heterogeneity among genome-wide association studies. | Kim G et al. | β | 2022 | β |
| Bevacizumab-induced hypertension and proteinuria: a genome-wide study of more than 1000 patients. | Quintanilha JCF et al. | β | 2022 | β |
| Cell type-specific histone acetylation profiling of Alzheimer's disease subjects and integration with genetics. | Ramamurthy E et al. | β | 2022 | β |
| Coronary artery disease risk factors affected by RNA modification-related genetic variants. | Li R et al. | β | 2022 | β |
| Cumulative Evidence for Associations Between Genetic Variants in Interleukin 6 Receptor Gene and Human Diseases and Phenotypes. | Zhang M et al. | β | 2022 | β |
| Deciphering associations between three RNA splicing-related genetic variants and lung cancer risk. | Yang W et al. | β | 2022 | β |
| Demystifying non-coding GWAS variants: an overview of computational tools and methods. | Schipper M et al. | β | 2022 | β |
| Detection of Neanderthal Adaptively Introgressed Genetic Variants That Modulate Reporter Gene Expression in Human Immune Cells. | Jagoda E et al. | β | 2022 | β |
| Discovering single-cell eQTLs from scRNA-seq data only. | Ma T et al. | β | 2022 | β |
| Discovery and Functional Characterization of Two Regulatory Variants Underlying Lupus Susceptibility at 2p13.1. | Fazel-Najafabadi M et al. | β | 2022 | β |
| echolocatoR: an automated end-to-end statistical and functional genomic fine-mapping pipeline. | Schilder BM et al. | β | 2022 | β |
| Elevated Risk of Fluoropyrimidine-Associated Toxicity in European Patients with <i>DPYD</i> Genetic Polymorphism: A Systematic Review and Meta-Analysis. | Kim W et al. | β | 2022 | β |
| Estrogen receptor alpha and NFATc1 bind to a bone mineral density-associated SNP to repress WNT5B in osteoblasts. | Suthon S et al. | β | 2022 | β |
| Estrogen-Related Receptor Ξ³ Maintains Pancreatic Acinar Cell Function and Identity by Regulating Cellular Metabolism. | Choi J et al. | β | 2022 | β |
| Exploring Lead loci shared between schizophrenia and Cardiometabolic traits. | He Q et al. | β | 2022 | β |
| Exploring the association of interleukin polymorphisms with aggression and internalizing behaviors in children and adolescents. | Pouget JG et al. | β | 2022 | β |
| Extensive germline-somatic interplay contributes to prostate cancer progression through HNF1B co-option of TMPRSS2-ERG. | Giannareas N et al. | β | 2022 | β |
| First genome-wide association study of esophageal atresia identifies three genetic risk loci at <i>CTNNA3</i>, <i>FOXF1</i>/<i>FOXC2</i>/<i>FOXL1</i>, and <i>HNF1B</i>. | Gehlen J et al. | β | 2022 | β |
| FTO rs62033406 A>G associated with the risk of osteonecrosis of the femoral head among the Chinese Han population. | Wang Y et al. | β | 2022 | β |
| GATA4 and estrogen receptor alpha bind at SNPs rs9921222 and rs10794639 to regulate AXIN1 expression in osteoblasts. | Suthon S et al. | β | 2022 | β |
| Genetic Analyses of Enamel Hypoplasia in Multiethnic Cohorts. | Alotaibi RN et al. | β | 2022 | β |
| Genetic Analysis of Coronary Artery Disease Using Tree-Based Automated Machine Learning Informed By Biology-Based Feature Selection. | Manduchi E et al. | β | 2022 | β |
| Genetic architecture of tuberculosis susceptibility: A comprehensive research synopsis, meta-analyses, and epidemiological evidence. | Jiao L et al. | β | 2022 | β |
| Genetic associations with immune-mediated outcomes after allogeneic hematopoietic cell transplantation. | Martin PJ et al. | β | 2022 | β |
| Genetic determinants of apixaban plasma levels and their relationship to bleeding and thromboembolic events. | Attelind S et al. | β | 2022 | β |
| Genetic Determinants of Survival in Parkinson's Disease in the Asian Population. | Li C et al. | β | 2022 | β |
| Genetic effects of B3GNT2 on ankylosing spondylitis susceptibility and clinical manifestations in Taiwanese. | Wang CM et al. | β | 2022 | β |
| Genetic pleiotropy underpinning adiposity and inflammation in self-identified Hispanic/Latino populations. | Anwar MY et al. | β | 2022 | β |
| Genetic Polymorphisms Associated with Prothrombin Time and Activated Partial Thromboplastin Time in Chinese Healthy Population. | Zhang F et al. | β | 2022 | β |
| Genetic variants associated with metabolic dysfunction-associated fatty liver disease in western China. | Liao S et al. | β | 2022 | β |
| Genetic variants, gene expression, and soluble CD36 analysis in acute coronary syndrome: Differential protein concentration between ST-segment elevation myocardial infarction and unstable angina. | Parra-Reyna B et al. | β | 2022 | β |
| Genetic variants underlying differences in facial morphology in East Asian and European populations. | Zhang M et al. | β | 2022 | β |
| Genome-wide analyses identify <i>SCN5A</i> as a susceptibility locus for premature atrial contraction frequency. | ThΓ©riault S et al. | β | 2022 | β |
| Genome-wide association study for systemic lupus erythematosus in an egyptian population. | Elghzaly AA et al. | β | 2022 | β |
| Genome-Wide Association Study Identifies Candidate Loci Associated with Opioid Analgesic Requirements in the Treatment of Cancer Pain. | Nishizawa D et al. | β | 2022 | β |
| Genome-Wide Association Study of COVID-19 Outcomes Reveals Novel Host Genetic Risk Loci in the Serbian Population. | Zecevic M et al. | β | 2022 | β |
| Genome-Wide Association Study of Fluorescent Oxidation Products Accounting for Tobacco Smoking Status in Adults from the French EGEA Study. | Orsi L et al. | β | 2022 | β |
| Genome-Wide Interaction Study of Late-Onset Asthma With Seven Environmental Factors Using a Structured Linear Mixed Model in Europeans. | Baek EJ et al. | β | 2022 | β |
| Genomic editing of metformin efficacy-associated genetic variants in SLC47A1 does not alter SLC47A1 expression. | Kalamajski S et al. | β | 2022 | β |
| Germline allelic expression of genes at 17q22 locus associates with risk of breast cancer. | Esteves F et al. | β | 2022 | β |
| GWAS identifies candidate susceptibility loci and microRNA biomarkers for acute encephalopathy with biphasic seizures and late reduced diffusion. | Kasai M et al. | β | 2022 | β |
| High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease. | Tcheandjieu C et al. | β | 2022 | β |
| HLA variants associated with azathioprine-induced pancreatitis in patients with Crohn's disease. | Γ s J et al. | β | 2022 | β |
| Identification and functional characterization of a novel susceptibility locus for small vessel vasculitis with MPO-ANCA. | Dahlqvist J et al. | β | 2022 | β |
| Identification of five genetic variants with differential effects on obesity-related traits based on age. | Chung JY et al. | β | 2022 | β |
| Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. | Loh M et al. | β | 2022 | β |
| Identification of <i>ATP2B4</i> Regulatory Element Containing Functional Genetic Variants Associated with Severe Malaria. | Nisar S et al. | β | 2022 | β |
| Identification of Novel Loci Involved in Adalimumab Response in Crohn's Disease Patients Using Integration of Genome Profiling and Isoform-Level Immune-Cell Deconvoluted Transcriptome Profiling of Colon Tissue. | Gorenjak M et al. | β | 2022 | β |
| Identification of RNA modification-associated single-nucleotide polymorphisms in genomic loci for low-density lipoprotein cholesterol concentrations. | Tang F et al. | β | 2022 | β |
| <i>In silico</i> identification and <i>in vitro</i> expression analysis of breast cancer-related m<sup>6</sup>A-SNPs. | Kleinbielen T et al. | β | 2022 | β |
| Impact of FOXP1 rs2687201 genetic variant on the susceptibility to HCV-related hepatocellular carcinoma in Egyptians. | Motawi TMK et al. | β | 2022 | β |
| <i>NCOR2</i> is a novel candidate gene for migraine-epilepsy phenotype. | Nuottamo ME et al. | β | 2022 | β |
| <i>NRN1</i> Gene as a Potential Marker of Early-Onset Schizophrenia: Evidence from Genetic and Neuroimaging Approaches. | AlmodΓ³var-PayΓ‘ C et al. | β | 2022 | β |
| Insights into the genetic architecture of haematological traits from deep phenotyping and whole-genome sequencing for two Mediterranean isolated populations. | Kuchenbaecker K et al. | β | 2022 | β |
| Integrated Approaches to Identify miRNA Biomarkers Associated with Cognitive Dysfunction in Multiple Sclerosis Using Text Mining, Gene Expression, Pathways, and GWAS. | Prabahar A et al. | β | 2022 | β |
| Integrative Meta-Analysis of Huntington's Disease Transcriptome Landscape. | Sneha NP et al. | β | 2022 | β |
| Interpretation of the role of germline and somatic non-coding mutations in cancer: expression and chromatin conformation informed analysis. | Pudjihartono M et al. | β | 2022 | β |
| Investigating the genetic architecture of eye colour in a Canadian cohort. | Lona-Durazo F et al. | β | 2022 | β |
| Investigation of the genetic effect of 56 tobacco-smoking susceptibility genes on DNA methylation and RNA expression in human brain. | Yang Z et al. | β | 2022 | β |
| <i>PRDX6</i> <i>AS1</i> gene polymorphisms and SLE susceptibility in Chinese populations. | Zhang XX et al. | β | 2022 | β |
| KDR genetic predictor of toxicities induced by sorafenib and regorafenib. | Quintanilha JCF et al. | β | 2022 | β |
| Limb development genes underlie variation in human fingerprint patterns. | Li J et al. | β | 2022 | β |
| Mer-tyrosine kinase: a novel susceptibility gene for SLE related end-stage renal disease. | Yavuz S et al. | β | 2022 | β |
| Meta-GWAS Reveals Novel Genetic Variants Associated with Urinary Excretion of Uromodulin. | Joseph CB et al. | β | 2022 | β |
| Molecular Mechanisms of ARID5B-Mediated Genetic Susceptibility to Acute Lymphoblastic Leukemia. | Zhao X et al. | β | 2022 | β |
| Multinational Genome-Wide Association Study and Functional Genomics Analysis Implicates Decreased SIRT3 Expression Underlying Intracranial Aneurysm Risk. | Hale AT et al. | β | 2022 | β |
| Multiplexed functional genomic assays to decipher the noncoding genome. | Cooper YA et al. | β | 2022 | β |
| NLRP3 Susceptible Gene Polymorphisms in Patients with Primary Gouty Arthritis and Hyperuricemia. | Zhang B et al. | β | 2022 | β |
| Novel genetic associations with five aesthetic facial traits: A genome-wide association study in the Chinese population. | Wang P et al. | β | 2022 | β |
| Pharmacogenomics deliberations of 2-deoxy-d-glucose in the treatment of COVID-19 disease: an in silico approach. | Prabhu NB et al. | β | 2022 | β |
| Pleiotropic <i>MLLT10</i> variation confers risk of meningioma and estrogen-mediated cancers. | Walsh KM et al. | β | 2022 | β |
| Potentially functional genetic variants of VAV2 and PSMA4 in the immune-activation pathway and non-small cell lung cancer survival. | Bai Y et al. | β | 2022 | β |
| Prioritization of human well-being spectrum related GWAS-SNVs using ENCODE-based web-tools predict interplay between PSMC3, ITIH4, and SERPINC1 genes in modulating well-being. | Pyne T et al. | β | 2022 | β |
| Prognostic Value of <i>LINC-ROR</i> (rs1942347) Variant in Patients with Colon Cancer Harboring BRAF Mutation: A Propensity Score-Matched Analysis. | Shaalan AAM et al. | β | 2022 | β |
| PUNISHER rs12318065 C>A transversion: a putative somatic driver mutation for poor prognosis in colon cancer. | Shaheen S et al. | β | 2022 | β |
| Regulation of CYP3A4 and CYP3A5 by a lncRNA: a potential underlying mechanism explaining the association between CYP3A4*1G and CYP3A metabolism. | Collins JM et al. | β | 2022 | β |
| Regulatory variants in a novel distal enhancer regulate the expression of CYP3A4 and CYP3A5. | Collins JM et al. | β | 2022 | β |
| Regulatory variation within 3'UTR of STAT5A correlates with sudden cardiac death in Chinese populations. | Yu H et al. | β | 2022 | β |
| Relationship between genetically determined telomere length and glioma risk. | Saunders CN et al. | β | 2022 | β |
| RNA modification-related variants in genomic loci associated with body mass index. | Wu J et al. | β | 2022 | β |
| Selecting Genetic Variants and Interactions Associated with Amyotrophic Lateral Sclerosis: A Group LASSO Approach. | Feronato SG et al. | β | 2022 | β |
| Shared genetic architectures of subjective well-being in East Asian and European ancestry populations. | Kim S et al. | β | 2022 | β |
| SLAMF6 is associated with the susceptibility and severity of rheumatoid arthritis in the Chinese population. | Xia G et al. | β | 2022 | β |
| Systematic analysis on expression quantitative trait loci identifies a novel regulatory variant in ring finger and WD repeat domain 3 associated with prognosis of pancreatic cancer. | Zhu Y et al. | β | 2022 | β |
| Tag Variants of LGALS-3 Containing Haplotype Block in Advanced Carotid Atherosclerosis. | Djordjevic A et al. | β | 2022 | β |
| The Association between ABCG2 421C>A (rs2231142) Polymorphism and Rosuvastatin Pharmacokinetics: A Systematic Review and Meta-Analysis | Song Y et al. | β | 2022 | β |
| The CRTh2 polymorphism rs533116 G > A associates with asthma severity in older females. | Shrestha Palikhe N et al. | β | 2022 | β |
| The enhancer rare germline variation rs548071605 contributes to lung cancer development. | Wang X et al. | β | 2022 | β |
| The Impact of <i>BCL11A</i> Polymorphisms on Endometrial Cancer Risk Among Chinese Han Females. | Cai J et al. | β | 2022 | β |
| The Relationship Between Chemokine and Chemokine Receptor Genes Polymorphisms and Chronic Obstructive Pulmonary Disease Susceptibility in Tatar Population from Russia: A Case Control Study. | Korytina GF et al. | β | 2022 | β |
| The role of the X chromosome in infectious diseases. | Hay M et al. | β | 2022 | β |
| The shared mother-child epigenetic signature of neglect is related to maternal adverse events. | LeΓ³n I et al. | β | 2022 | β |
| TRmir: A Comprehensive Resource for Human Transcriptional Regulatory Information of MiRNAs. | Gao Y et al. | β | 2022 | β |
| Validating MARK2 Gene Polymorphism as a Predictor of Response to Lithium Treatment in Bipolar Patients | Aghabozorg Afjeh SS et al. | β | 2022 | β |
| Valosin Containing Protein as a Specific Biomarker for Predicting the Development of Acute Coronary Syndrome and Its Complication. | Xu C et al. | β | 2022 | β |
| Variants in proinflammatory genes IL1RL1, IL1B and IRF4 are associated with overweight in a pediatric Brazilian population. | Melo APC et al. | β | 2022 | β |
| Variation in CFHR3 determines susceptibility to meningococcal disease by controlling factor H concentrations. | Kumar V et al. | β | 2022 | β |
| Whole-Exome Sequencing Identifies a Novel Germline Variant in <i>PTK7</i> Gene in Familial Colorectal Cancer. | Miao B et al. | β | 2022 | β |
| 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. | Hoskens H et al. | β | 2021 | β |
| A case-control study on correlation between the single nucleotide polymorphism of CLEC4E and the susceptibility to tuberculosis among Han people in Western China. | Zhou W et al. | β | 2021 | β |
| A comprehensive analysis of SNPs and CNVs identifies novel markers associated with disease outcomes in colorectal cancer. | Yu Y et al. | β | 2021 | β |
| A cross-platform approach identifies genetic regulators of human metabolism and health. | Lotta LA et al. | β | 2021 | β |
| Admixture mapping analysis reveals differential genetic ancestry associated with Chagas disease susceptibility in the Colombian population. | Casares-Marfil D et al. | β | 2021 | β |
| Admixture mapping identifies African and Amerindigenous local ancestry loci associated with fetal growth. | Tekola-Ayele F et al. | β | 2021 | β |
| A Functional SNP in the Promoter of <i>LBX1</i> Is Associated With the Development of Adolescent Idiopathic Scoliosis Through Involvement in the Myogenesis of Paraspinal Muscles. | Xu L et al. | β | 2021 | β |
| A Functional Variant rs3093023 in <i>CCR6</i> Is Associated With IgA Nephropathy by Regulating Th17 Cells in a North Han Chinese Population. | Zhang YM et al. | β | 2021 | β |
| A Functional Variant Rs492554 Associated With Congenital Heart Defects Modulates <i>SESN2</i> Expression Through POU2F1. | Yang W et al. | β | 2021 | β |
| A genome-wide association study for highly sensitive cardiac troponin T levels identified a novel genetic variation near a RBAK-ZNF890P locus in the Japanese general population. | Nasu T et al. | β | 2021 | β |
| A genome-wide association study identifies a novel candidate locus at the DLGAP1 gene with susceptibility to resistant hypertension in the Japanese population. | Takahashi Y et al. | β | 2021 | β |
| A Genome-Wide Association Study Identifies Novel Susceptibility loci in Chronic Chagas Cardiomyopathy. | Casares-Marfil D et al. | β | 2021 | β |
| A Genome-Wide Association Study of Age-Related Hearing Impairment in Middle- and Old-Aged Chinese Twins. | Duan H et al. | β | 2021 | β |
| A missense variant in NDUFA6 confers schizophrenia risk by affecting YY1 binding and NAGA expression. | Li Y et al. | β | 2021 | β |
| A multi-omics study links TNS3 and SEPT7 to long-term former smoking NSCLC survival. | Shen S et al. | β | 2021 | β |
| A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram. | BrΓ₯ten LS et al. | β | 2021 | β |
| A Novel Low-Risk Germline Variant in the SH2 Domain of the SRC Gene Affects Multiple Pathways in Familial Colorectal Cancer. | Skopelitou D et al. | β | 2021 | β |
| A review of linc00673 as a novel lncRNA for tumor regulation. | Zhu K et al. | β | 2021 | β |
| Assessing the Function of the <i>ZFP90</i> Variant rs1170426 in SLE and the Association Between SLE Drug Target and Susceptibility Genes. | Zhu T et al. | β | 2021 | β |
| Association Analysis of Variants of <i>DSCAM</i> and <i>BACE2</i> With Hirschsprung Disease Susceptibility in Han Chinese and Functional Evaluation in Zebrafish. | Lu YJ et al. | β | 2021 | β |
| Association between <i>ADCY9</i> Gene Polymorphisms and Ritodrine Treatment Outcomes in Patients with Preterm Labor. | Lee N et al. | β | 2021 | β |
| Association between <i>CYP3A5</i> Polymorphism and Statin-Induced Adverse Events: A Systemic Review and Meta-Analysis. | Yee J et al. | β | 2021 | β |
| Association between NF-kB polymorphism and age-related macular degeneration in a high-altitude population. | Xin Y et al. | β | 2021 | β |
| Association Between rs12037447, rs146732504, rs151078858, rs55723436, and rs6094136 Polymorphisms and Kawasaki Disease in the Population of Polish Children. | Buda P et al. | β | 2021 | β |
| Association of Extracellular Signal-Regulated Kinase Genes With Myopia: A Longitudinal Study of Chinese Children. | Xiao H et al. | β | 2021 | β |
| Association of Genetic Variant at Chromosome 12q23.1 With Neuropathic Pain Susceptibility. | Veluchamy A et al. | β | 2021 | β |
| Association of Genetic Variants in miR-217 Gene with Risk of Coronary Artery Disease: A Case-Control Study. | Han X et al. | β | 2021 | β |
| Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk. | Wang H et al. | β | 2021 | β |
| Association of genetic variants of <i>TMEM135</i> and <i>PEX5</i> in the peroxisome pathway with cutaneous melanoma-specific survival. | Wang H et al. | β | 2021 | β |
| Association of Gene Variations in Ionotropic Glutamate Receptor and Attention-Deficit/Hyperactivity Disorder in the Chinese Population: A Two-Stage Case-Control Study. | Zhang Q et al. | β | 2021 | β |
| Association of growth hormone receptor gene variant with longevity in men is due to amelioration of increased mortality risk from hypertension. | Donlon TA et al. | β | 2021 | β |
| Association of GTF2I, NFKB1, and TYK2 Regional Polymorphisms With Systemic Sclerosis in a Chinese Han Population. | Liu C et al. | β | 2021 | β |
| Association of microRNA-34a rs2666433 (A/G) Variant with Systemic Lupus Erythematosus in Female Patients: A Case-Control Study. | Ismail NM et al. | β | 2021 | β |
| Associations of GWAS-Supported Non-MHC Genes with Autoimmune Thyroiditis in Patients with Type 1 Diabetes. | Liang J et al. | β | 2021 | β |
| A Systems Biology Approach for Hypothesizing the Effect of Genetic Variants on Neuroimaging Features in Alzheimer's Disease. | Golriz Khatami S et al. | β | 2021 | β |
| ATACdb: a comprehensive human chromatin accessibility database. | Wang F et al. | β | 2021 | β |
| A variant near DHCR24 associates with microstructural properties of white matter and peripheral lipid metabolism in adolescents. | Sliz E et al. | β | 2021 | β |
| A web-based survey on various symptoms of computer vision syndrome and the genetic understanding based on a multi-trait genome-wide association study. | Yoshimura K et al. | β | 2021 | β |
| Beyond association: successes and challenges in linking non-coding genetic variation to functional consequences that modulate Alzheimer's disease risk. | Novikova G et al. | β | 2021 | β |
| Bivariate genome-wide association study (GWAS) of body mass index and blood pressure phenotypes in northern Chinese twins. | Li Z et al. | β | 2021 | β |
| Brain-Specific Gene Expression and Quantitative Traits Association Analysis for Mild Cognitive Impairment. | Yuan SX et al. | β | 2021 | β |
| Causal inference for heritable phenotypic risk factors using heterogeneous genetic instruments. | Wang J et al. | β | 2021 | β |
| Cell-type-specific meQTLs extend melanoma GWAS annotation beyond eQTLs and inform melanocyte gene-regulatory mechanisms. | Zhang T et al. | β | 2021 | β |
| Chromatin Landscapes of Human Lung Cells Predict Potentially Functional Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Variants. | Benway CJ et al. | β | 2021 | β |
| Coding Variants are Relevant to the Expression of Obesity-Related Genes for Pediatric Adiposity. | Mao K et al. | β | 2021 | β |
| Colocalization analysis of polycystic ovary syndrome to identify potential disease-mediating genes and proteins. | Censin JC et al. | β | 2021 | β |
| Common and Rare Variants Genetic Association Analysis of Circulating Neutrophil Extracellular Traps. | Donkel SJ et al. | β | 2021 | β |
| Comprehensive Integration of Genome-Wide Association and Gene Expression Studies Reveals Novel Gene Signatures and Potential Therapeutic Targets for <i>Helicobacter pylori</i>-Induced Gastric Disease. | Badr MT et al. | β | 2021 | β |
| Conceptualization of functional single nucleotide polymorphisms of polycystic ovarian syndrome genes: an in silico approach. | Prabhu BN et al. | β | 2021 | β |
| Consistent Assignment of Risk and Benign Allele at rs2303153 in the CF Modifier Gene <i>SCNN1B</i> in Three Independent F508del-<i>CFTR</i> Homozygous Patient Populations. | Stanke F et al. | β | 2021 | β |
| Cross-cancer evaluation of polygenic risk scores for 16 cancer types in two large cohorts. | Graff RE et al. | β | 2021 | β |
| Discovery and fine-mapping of height loci via high-density imputation of GWASs in individuals of African ancestry. | Graff M et al. | β | 2021 | β |
| Disease-associated genetic variants in the regulatory regions of human genes: mechanisms of action on transcription and genomic resources for dissecting these mechanisms. | Ignatieva EV et al. | β | 2021 | β |
| DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations. | Niazi Y et al. | β | 2021 | β |
| DNA repair gene polymorphisms and chromosomal aberrations in healthy, nonsmoking population. | Niazi Y et al. | β | 2021 | β |
| Drug Repurposing for Atopic Dermatitis by Integration of Gene Networking and Genomic Information. | Adikusuma W et al. | β | 2021 | β |
| Dysregulation of Synaptic Signaling Genes Is Involved in Biology of Uterine Leiomyoma. | Krsteski J et al. | β | 2021 | β |
| Elucidation of disease etiology by trans-layer omics analysis. | Shirai Y et al. | β | 2021 | β |
| ERCC2 gene single-nucleotide polymorphism as a prognostic factor for locally advanced head and neck carcinomas after definitive cisplatin-based radiochemotherapy. | Guberina M et al. | β | 2021 | β |
| Exploring Common Therapeutic Targets for Neurodegenerative Disorders Using Transcriptome Study. | Dharshini SAP et al. | β | 2021 | β |
| From GWAS to Gene: Transcriptome-Wide Association Studies and Other Methods to Functionally Understand GWAS Discoveries. | Li B et al. | β | 2021 | β |
| Functional Genomics Identify a Regulatory Risk Variation rs4420550 in the 16p11.2 Schizophrenia-Associated Locus. | Chang H et al. | β | 2021 | β |
| Functional variants fine-mapping and gene function characterization provide insights into the role of ZNF323 in schizophrenia pathogenesis. | Li S et al. | β | 2021 | β |
| Gene-educational attainment interactions in a multi-ancestry genome-wide meta-analysis identify novel blood pressure loci. | de las Fuentes L et al. | β | 2021 | β |
| Genes influenced by MEF2C contribute to neurodevelopmental disease via gene expression changes that affect multiple types of cortical excitatory neurons. | Cosgrove D et al. | β | 2021 | β |
| Genetic Association of a Gain-of-Function IFNGR1 Polymorphism and the Intergenic Region LNCAROD/DKK1 With BehΓ§et's Disease. | Ortiz FernΓ‘ndez L et al. | β | 2021 | β |
| Genetic discovery and risk characterization in type 2 diabetes across diverse populations. | Polfus LM et al. | β | 2021 | β |
| Genetic evaluation of the variants using MassARRAY in non-small cell lung cancer among North Indians. | Bhat GR et al. | β | 2021 | β |
| Genetic Predictors of Severe Skin Toxicity in Patients with Stage III Colon Cancer Treated with Cetuximab: NCCTG N0147 (Alliance). | Labadie JD et al. | β | 2021 | β |
| Genetic variant in <i>microRNA-146a</i> gene is associated with risk of rheumatoid arthritis. | Zhang LL et al. | β | 2021 | β |
| Genetic variation in catechol-O-methyltransferase is associated with individual differences in conditioned pain modulation in healthy subjects. | Korczeniewska OA et al. | β | 2021 | β |
| Genetic variation in genes regulating skeletal muscle regeneration and tissue remodelling associated with weight loss in chronic obstructive pulmonary disease. | Lakshman Kumar P et al. | β | 2021 | β |
| Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis. | Vandebergh M et al. | β | 2021 | β |
| Genetic variations in the CTLA-4 immune checkpoint pathway are associated with colon cancer risk, prognosis, and immune infiltration via regulation of IQCB1 expression. | Ben S et al. | β | 2021 | β |
| Genome-wide analyses of multiple obesity-related cytokines and hormones informs biology of cardiometabolic traits. | Meeks KAC et al. | β | 2021 | β |
| Genome-Wide Association Analyses Identify Variants in <i>IRF4</i> Associated With Acute Myeloid Leukemia and Myelodysplastic Syndrome Susceptibility. | Wang J et al. | β | 2021 | β |
| Genome-Wide Association Analysis of Neonatal White Matter Microstructure. | Zhang J et al. | β | 2021 | β |
| Genome-wide association of phenotypes based on clustering patterns of hand osteoarthritis identify <i>WNT9A</i> as novel osteoarthritis gene. | Boer CG et al. | β | 2021 | β |
| Genome-Wide Association Study (GWAS) of dental caries in diverse populations. | Alotaibi RN et al. | β | 2021 | β |
| Genome-wide association study identifying novel variant for fasting insulin and allelic heterogeneity in known glycemic loci in Chilean adolescents: The Santiago Longitudinal Study. | Buchanan VL et al. | β | 2021 | β |
| Genome-wide Association Study of Estradiol Levels and the Causal Effect of Estradiol on Bone Mineral Density. | Schmitz D et al. | β | 2021 | β |
| Genome-Wide Identification of RNA Modifications for Spontaneous Coronary Aortic Dissection. | Chai T et al. | β | 2021 | β |
| Genome-wide prioritization reveals novel gene signatures associated with cardiotoxic effects of tyrosine kinase inhibitors. | Li Y et al. | β | 2021 | β |
| Genomic Risk Factors for Cervical Cancer. | Ramachandran D et al. | β | 2021 | β |
| Germline determinants of humoral immune response to HPV-16 protect against oropharyngeal cancer. | Ferreiro-Iglesias A et al. | β | 2021 | β |
| Germline variants are associated with increased primary melanoma tumor thickness at diagnosis. | Mangantig E et al. | β | 2021 | β |
| Germline Variation and Somatic Alterations in Ewing Sarcoma. | Machiela MJ et al. | β | 2021 | β |
| Germline variation in the insulin-like growth factor pathway and risk of Barrett's esophagus and esophageal adenocarcinoma. | Dighe SG et al. | β | 2021 | β |
| GWAS-linked hot loci predict short-term functional outcome and recurrence of ischemic stroke in Chinese population. | Zhu R et al. | β | 2021 | β |
| Hepatocellular carcinoma risk variant modulates lncRNA HLA-DQB1-AS1 expression via a long-range enhancer-promoter interaction. | Wang H et al. | β | 2021 | β |
| Hepcidin-regulating iron metabolism genes and pancreatic ductal adenocarcinoma: a pathway analysis of genome-wide association studies. | JuliΓ‘n-Serrano S et al. | β | 2021 | β |
| Heritability Enrichment of Immunoglobulin G N-Glycosylation in Specific Tissues. | Li X et al. | β | 2021 | β |
| HIF-1Ξ± Pulmonary Phenotype Wide Association Study Unveils a Link to Inflammatory Airway Conditions. | Kelchtermans J et al. | β | 2021 | β |
| Identification of a Risk Locus at 7p22.3 for Schizophrenia and Bipolar Disorder in East Asian Populations. | Li W et al. | β | 2021 | β |
| Identification of Influential Variants in Significant Aggregate Rare Variant Tests. | Blumhagen RZ et al. | β | 2021 | β |
| Identification of pleiotropic loci underlying hip bone mineral density and trunk lean mass. | Feng GJ et al. | β | 2021 | β |
| Identification of susceptibility loci for Takayasu arteritis through a large multi-ancestral genome-wide association study. | Ortiz-FernΓ‘ndez L et al. | β | 2021 | β |
| Identifying causal models between genetically regulated methylation patterns and gene expression in healthy colon tissue. | DΓez-Villanueva A et al. | β | 2021 | β |
| <i>LOXL1</i> gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia. | Eliseeva N et al. | β | 2021 | β |
| Immunogenetic determinants of heterosexual HIV-1 transmission: key findings and lessons from two distinct African cohorts. | Tang J | β | 2021 | β |
| <i>NAT1</i> genetic variation increases asthma risk in children with secondhand smoke exposure. | Brooks CC et al. | β | 2021 | β |
| Independent and cumulative coeliac disease-susceptibility loci are associated with distinct disease phenotypes. | Cerqueira JXM et al. | β | 2021 | β |
| Integration of Alzheimer's disease genetics and myeloid genomics identifies disease risk regulatory elements and genes. | Novikova G et al. | β | 2021 | β |
| Integrative analysis of genome-wide association studies identifies novel loci associated with neuropsychiatric disorders. | Yao X et al. | β | 2021 | β |
| Integrative genomic analysis of N6-methyladenosine-single nucleotide polymorphisms (m<sup>6</sup>A-SNPs) associated with breast cancer. | Xuan Z et al. | β | 2021 | β |
| Interaction between <i>G</i><i>ALNT12</i> and <i>C1GALT1</i> Associates with Galactose-Deficient IgA1 and IgA Nephropathy. | Wang YN et al. | β | 2021 | β |
| IRF7 and RNH1 are modifying factors of HIV-1 reservoirs: a genome-wide association analysis. | Zhang Z et al. | β | 2021 | β |
| Lack of association of CD44-rs353630 and CHI3L2-rs684559 with pancreatic ductal adenocarcinoma survival. | Gentiluomo M et al. | β | 2021 | β |
| Large-scale meta-analysis across East Asian and European populations updated genetic architecture and variant-driven biology of rheumatoid arthritis, identifying 11 novel susceptibility loci. | Ha E et al. | β | 2021 | β |
| Lifespan extension conferred by mitogen-activated protein kinase kinase kinase 5 (<i>MAP3K5</i>) longevity-associated gene variation is confined to at-risk men with a cardiometabolic disease. | Morris BJ et al. | β | 2021 | β |
| Loci identified by a genome-wide association study of carotid artery stenosis in the eMERGE network. | Palmer MR et al. | β | 2021 | β |
| Low tolerance for transcriptional variation at cohesin genes is accompanied by functional links to disease-relevant pathways. | Schierding W et al. | β | 2021 | β |
| Lupus Susceptibility Region Containing CDKN1B rs34330 Mechanistically Influences Expression and Function of Multiple Target Genes, Also Linked to Proliferation and Apoptosis. | Singh B et al. | β | 2021 | β |
| Lupus susceptibility region containing CTLA4 rs17268364 functionally reduces CTLA4 expression by binding EWSR1 and correlates IFN-Ξ± signature. | Qi YY et al. | β | 2021 | β |
| Major histocompatibility complex class II polymorphic variants are associated with asthma predisposition in the Punjabi population of Lahore, Pakistan. | Aslam R et al. | β | 2021 | β |
| Mendelian randomization to evaluate the effect of plasma vitamin C levels on the risk of Alzheimer's disease. | Liu H et al. | β | 2021 | β |
| miR-155 T/A (rs767649) and miR-146a A/G (rs57095329) single nucleotide polymorphisms as risk factors for chronic hepatitis B virus infection among Egyptian patients. | Hefzy EM et al. | β | 2021 | β |
| Motif-Raptor: a cell type-specific and transcription factor centric approach for post-GWAS prioritization of causal regulators. | Yao Q et al. | β | 2021 | β |
| Multi-Ancestry Genome-wide Association Study Accounting for Gene-Psychosocial Factor Interactions Identifies Novel Loci for Blood Pressure Traits. | Sun D et al. | β | 2021 | β |
| Multi-ancestry genome-wide gene-sleep interactions identify novel loci for blood pressure. | Wang H et al. | β | 2021 | β |
| Multi-omic analysis elucidates the genetic basis of hydrocephalus. | Hale AT et al. | β | 2021 | β |
| Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage. | Page GP et al. | β | 2021 | β |
| Multi-site Investigation of Genetic Determinants of Warfarin Dose Variability in Latinos. | El Rouby N et al. | β | 2021 | β |
| Novel Data about Association of the Functionally Significant Polymorphisms of the MMP9 Gene with Exfoliation Glaucoma in the Caucasian Population of Central Russia. | Starikova D et al. | β | 2021 | β |
| Novel loci and Mapuche genetic ancestry are associated with pubertal growth traits in Chilean boys. | VicuΓ±a L et al. | β | 2021 | β |
| Omics data integration identifiesΒ ELOVL7Β andΒ MMDΒ gene regions as novel loci for adalimumab response in patients with Crohn's disease. | Gorenjak M et al. | β | 2021 | β |
| Parallel functional testing identifies enhancers active in early postnatal mouse brain. | Lambert JT et al. | β | 2021 | β |
| Parallel Reporter Assays Identify Altered Regulatory Role of rs684232 in Leading to Prostate Cancer Predisposition. | Ren N et al. | β | 2021 | β |
| Peripheral spectrum neurological disorder after arbovirus infection is associated with HLA-F variants among Northeastern Brazilians. | Sonon P et al. | β | 2021 | β |
| Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy. | Davis BH et al. | β | 2021 | β |
| Pharmacogenomic Effects of Ξ²-Blocker Use on Femoral Neck Bone Mineral Density. | Nevola KT et al. | β | 2021 | β |
| Pharmacological Therapy Determines the Gut Microbiota Modulation by a Pomegranate Extract Nutraceutical in Metabolic Syndrome: A Randomized Clinical Trial. | CortΓ©s-MartΓn A et al. | β | 2021 | β |
| Planning and Conducting a Pharmacogenetics Association Study. | Hertz DL et al. | β | 2021 | β |
| Possible modification of BRSK1 on the risk of alkylating chemotherapy-related reduced ovarian function. | van der Kooi ALF et al. | β | 2021 | β |
| Post-GWAS functional studies reveal an RA-associated CD40-induced NF-kB signal transduction and transcriptional regulation network targeted by class II HDAC inhibitors. | Zou M et al. | β | 2021 | β |
| Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. | Mortezaei Z et al. | β | 2021 | β |
| Regulatory genomic circuitry of human disease loci by integrative epigenomics. | Boix CA et al. | β | 2021 | β |
| Replication of European hypertension associations in a case-control study of 9,534 African Americans. | Kaur H et al. | β | 2021 | β |
| SARS-CoV-2 Receptor ACE2 Gene Is Associated with Hypertension and Severity of COVID 19: Interaction with Sex, Obesity, and Smoking. | Hamet P et al. | β | 2021 | β |
| Search for genetic loci involved in the constitution and skin type of a Japanese women using a genome-wide association study. | Inoue Y et al. | β | 2021 | β |
| Selective sweep for an enhancer involucrin allele identifies skin barrier adaptation out of Africa. | Mathyer ME et al. | β | 2021 | β |
| SIRT1 Gene SNP rs932658 Is Associated With Medication-Related Osteonecrosis of the Jaw. | Yang G et al. | β | 2021 | β |
| SLC46A1 Haplotype with Predicted Functional Impact has Prognostic Value in Breast Carcinoma. | Hlavac V et al. | β | 2021 | β |
| Smoking Modifies Pancreatic Cancer Risk Loci on 2q21.3. | Mocci E et al. | β | 2021 | β |
| SNP rs4971059 predisposes to breast carcinogenesis and chemoresistance via TRIM46-mediated HDAC1 degradation. | Zhang Z et al. | β | 2021 | β |
| Susceptibility-Associated Genetic Variation in <i>NEDD9</i> Contributes to Prostate Cancer Initiation and Progression. | Han D et al. | β | 2021 | β |
| Systematic Evaluation of DNA Sequence Variations on <i>in vivo</i> Transcription Factor Binding Affinity. | Jin Y et al. | β | 2021 | β |
| Targeted analysis of genomic regions enriched in African ancestry reveals novel classical HLA alleles associated with asthma in Southwestern Europeans. | Suarez-Pajes E et al. | β | 2021 | β |
| TAS1R2 sweet taste receptor genetic variation and dietary intake in Korean females. | Choi JH | β | 2021 | β |
| The contribution of the <i>LOC105371267</i> and <i>MRPS30-DT</i> genetic polymorphisms to IgA nephropathy in the Chinese Han population. | Chen X et al. | β | 2021 | β |
| The flashfm approach for fine-mapping multiple quantitative traits. | HernΓ‘ndez N et al. | β | 2021 | β |
| The genetic architecture of DNA replication timing in human pluripotent stem cells. | Ding Q et al. | β | 2021 | β |
| The phytochemical hyperforin triggers thermogenesis in adipose tissue via a Dlat-AMPK signaling axis to curb obesity. | Chen S et al. | β | 2021 | β |
| The proximal proteome of 17 SARS-CoV-2 proteins links to disrupted antiviral signaling and host translation. | Meyers JM et al. | β | 2021 | β |
| The role of glucocorticoid receptor gene in the association between attention deficit-hyperactivity disorder and smaller brain structures. | Bandeira CE et al. | β | 2021 | β |
| The ZNF76 rs10947540 polymorphism associated with systemic lupus erythematosus risk in Chinese populations. | Qi YY et al. | β | 2021 | β |
| Three pleiotropic loci associated with bone mineral density and lean body mass. | Zhang YX et al. | β | 2021 | β |
| TLR4 promoter rs1927914 variant contributes to the susceptibility of esophageal squamous cell carcinoma in the Chinese population. | Li J et al. | β | 2021 | β |
| TNFSF4 is a risk factor to systemic lupus erythematosus in a Latin American population. | Moreno-Eutimio MA et al. | β | 2021 | β |
| Trans-ethnic meta-analysis identifies new loci associated with longitudinal blood pressure traits. | Gouveia MH et al. | β | 2021 | β |
| Translational Analysis of Moderate to Severe Asthma GWAS Signals Into Candidate Causal Genes and Their Functional, Tissue-Dependent and Disease-Related Associations. | Portelli MA et al. | β | 2021 | β |
| TRlnc: a comprehensive database for human transcriptional regulatory information of lncRNAs. | Li Y et al. | β | 2021 | β |
| VARAdb: a comprehensive variation annotation database for human. | Pan Q et al. | β | 2021 | β |
| Variation in genes implicated in B-cell development and antibody production affects susceptibility to pemphigus. | Calonga-SolΓs V et al. | β | 2021 | β |
| Whole Exome Sequencing Identifies <i>APCDD1</i> and <i>HDAC5</i> Genes as Potentially Cancer Predisposing in Familial Colorectal Cancer. | Skopelitou D et al. | β | 2021 | β |
| Whole-genome sequencing identifies functional noncoding variation in SEMA3C that cosegregates with dyslexia in a multigenerational family. | Carrion-Castillo A et al. | β | 2021 | β |
| Whole genome sequencing of 10K patients with acute ischaemic stroke or transient ischaemic attack: design, methods and baseline patient characteristics. | Cheng S et al. | β | 2021 | β |
| ZFP90 drives the initiation of colitis-associated colorectal cancer via a microbiota-dependent strategy. | Han JX et al. | β | 2021 | β |
| A cross-disease meta-GWAS identifies four new susceptibility loci shared between systemic sclerosis and Crohn's disease. | GonzΓ‘lez-Serna D et al. | β | 2020 | β |
| A genome-wide association study of cocaine use disorder accounting for phenotypic heterogeneity and geneβenvironment interaction | Sun J et al. | β | 2020 | β |
| A lead candidate functional single nucleotide polymorphism within the WARS2 gene associated with waist-hip-ratio does not alter RNA stability. | MuΕ‘o M et al. | β | 2020 | β |
| Allelic Heterogeneity at the CRP Locus Identified by Whole-Genome Sequencing in Multi-ancestry Cohorts. | Raffield LM et al. | β | 2020 | β |
| Ambient Temperature is A Strong Selective Factor Influencing Human Development and Immunity. | Ji L et al. | β | 2020 | β |
| A meta-analysis of genome-wide association studies of multiple myeloma among men and women of African ancestry. | Du Z et al. | β | 2020 | β |
| A Meta-Analysis on the Association Between <i>TNFSF4</i> Polymorphisms (rs3861950 T > C and rs1234313 A > G) and Susceptibility to Coronary Artery Disease. | Liu S et al. | β | 2020 | β |
| A method for scoring the cell type-specific impacts of noncoding variants in personal genomes. | Li W et al. | β | 2020 | β |
| Analysis of KCNH2 and CACNA1C schizophrenia risk genes on EEG functional network modulation during an auditory odd-ball task. | Lubeiro A et al. | β | 2020 | β |
| An Enhancer-Based Analysis Revealed a New Function of Androgen Receptor in Tumor Cell Immune Evasion. | Wang Y et al. | β | 2020 | β |
| An intronic FTO variant rs16952570 confers protection against thiopurine-induced myelotoxicities in multiethnic Asian IBD patients. | Chen S et al. | β | 2020 | β |
| A non-coding genetic variant associated with abdominal aortic aneurysm alters ERG gene regulation. | Marsman J et al. | β | 2020 | β |
| ANRIL Variants Are Associated with Risk of Neuropsychiatric Conditions. | Namvar A et al. | β | 2020 | β |
| A Single Nucleotide Polymorphism in GAS5 lncRNA is Associated with Risk of Bladder Cancer in Iranian Population. | Rakhshan A et al. | β | 2020 | β |
| Association between variant alleles of major histocompatibility complex class II regulatory genes and nasopharyngeal carcinoma susceptibility. | Zhou P et al. | β | 2020 | β |
| Association of 3p27.1 Variants with Whole Body Lean Mass Identified by a Genome-wide Association Study. | Ran S et al. | β | 2020 | β |
| Association of Alzheimer's disease risk variants on the <i>PICALM</i> gene with PICALM expression, core biomarkers, and feature neurodegeneration. | Xu W et al. | β | 2020 | β |
| Association of common genetic variants with brain microbleeds: A genome-wide association study. | Knol MJ et al. | β | 2020 | β |
| Association of Common Variants of <i>TNFSF13</i> and <i>TNFRSF13B</i> Genes with CLL Risk and Clinical Picture, as Well as Expression of Their Products-APRIL and TACI Molecules. | Jasek M et al. | β | 2020 | β |
| Association of ECE1 gene polymorphisms and essential hypertension risk in the Northern Han Chinese: A case-control study. | Wang H et al. | β | 2020 | β |
| Association of Genetic Variation With Keratoconus. | McComish BJ et al. | β | 2020 | β |
| Association of <i>DIAPH1</i> gene polymorphisms with ischemic stroke. | Ren Z et al. | β | 2020 | β |
| Association of UGT2B7 and CaMK4 with response of valproic acid in Chinese children with epilepsy. | Wang Y et al. | β | 2020 | β |
| Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. | Blue EE et al. | β | 2020 | β |
| Associations Between Two Single-Nucleotide Polymorphisms in NINJ2 Gene and Risk of Psychiatric Disorders. | Sayad A et al. | β | 2020 | β |
| A Systematic Literature Review of Whole Exome and Genome Sequencing Population Studies of Genetic Susceptibility to Cancer. | Rotunno M et al. | β | 2020 | β |
| Bivariate genome-wide association analysis identified three pleiotropic loci underlying osteoporosis and obesity. | Pei YF et al. | β | 2020 | β |
| Both <i>HLA</i> class I and II regions identified as genome-wide significant susceptibility loci for adult-onset Still's disease in Chinese individuals. | Li Z et al. | β | 2020 | β |
| Candidate Causal Variants at the 8p12 Breast Cancer Risk Locus Regulate <i>DUSP4</i>. | Glubb DM et al. | β | 2020 | β |
| CATA: a comprehensive chromatin accessibility database for cancer. | Zhou J et al. | β | 2020 | β |
| Cerebral small vessel disease genomics and its implications across the lifespan. | Sargurupremraj M et al. | β | 2020 | β |
| Circulating Vitamin D Levels and Alzheimer's Disease: A Mendelian Randomization Study in the IGAP and UK Biobank. | Wang L et al. | β | 2020 | β |
| Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. | Yonova-Doing E et al. | β | 2020 | β |
| Comparative and Functional Genomic Resource for Mechanistic Studies of Human Blood Pressure-Associated Single Nucleotide Polymorphisms. | Mishra MK et al. | β | 2020 | β |
| Concentrations of persistent organic pollutants in maternal plasma and epigenome-wide placental DNA methylation. | Ouidir M et al. | β | 2020 | β |
| Diabetes and cancer risk: A Mendelian randomization study. | Goto A et al. | β | 2020 | β |
| Disentangling the genetics of sarcopenia: prioritization of NUDT3 and KLF5 as genes for lean mass & HLA-DQB1-AS1 for hand grip strength with the associated enhancing SNPs & a scoring system. | Singh AN et al. | β | 2020 | β |
| DNA Variant in the <i>RPGRIP1L</i> Gene Influences Alternative Splicing. | Reble E et al. | β | 2020 | β |
| Early pregnancy dyslipidemia is associated with placental DNA methylation at loci relevant for cardiometabolic diseases. | Ouidir M et al. | β | 2020 | β |
| Embracing study heterogeneity for finding genetic interactions in large-scale research consortia. | Liu Y et al. | β | 2020 | β |
| Epigenomes of Human Hearts Reveal New Genetic Variants Relevant for Cardiac Disease and Phenotype. | Tan WLW et al. | β | 2020 | β |
| Epistatic interaction between PKD2 and ABCG2 influences the pathogenesis of hyperuricemia and gout. | Dong Z et al. | β | 2020 | β |
| Evaluating the cardiovascular safety of sclerostin inhibition using evidence from meta-analysis of clinical trials and human genetics. | Bovijn J et al. | β | 2020 | β |
| Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk. | Richard D et al. | β | 2020 | β |
| Expanding the genetic architecture of nicotine dependence and its shared genetics with multiple traits. | Quach BC et al. | β | 2020 | β |
| Fine-mapping of a novel premenopausal breast cancer susceptibility locus at Chr4q31.22 in Caucasian women and validation in African and Chinese women. | Kumaran M et al. | β | 2020 | β |
| Four Loci Are Associated with Cardiorespiratory Fitness and Endurance Performance in Young Chinese Females. | Zhao Y et al. | β | 2020 | β |
| Four pleiotropic loci associated with fat mass and lean mass. | Liu Y et al. | β | 2020 | β |
| Functional genetic variants in centrosome-related genes CEP72 and YWHAG confer susceptibility to gastric cancer. | Ni J et al. | β | 2020 | β |
| Functionally significant polymorphisms of ESR1and PGR and risk of intrauterine growth restriction in population of Central Russia. | Golovchenko O et al. | β | 2020 | β |
| Further confirmation of netrin 1 receptor (DCC) as a depression risk gene via integrations of multi-omics data. | Li HJ et al. | β | 2020 | β |
| Genetic associations of T cell cancer immune response-related genes with T cell phenotypes and clinical outcomes of early-stage lung cancer. | Wang Q et al. | β | 2020 | β |
| Genetic Determinants of Gating Functions: Do We Get Closer to Understanding Schizophrenia Etiopathogenesis? | RovnΓ½ R et al. | β | 2020 | β |
| Genetic Polymorphisms, Mediterranean Diet and Microbiota-Associated Urolithin Metabotypes can Predict Obesity in Childhood-Adolescence. | CortΓ©s-MartΓn A et al. | β | 2020 | β |
| Genetics of Gene Expression in the Aging Human Brain Reveal TDP-43 Proteinopathy Pathophysiology. | Yang HS et al. | β | 2020 | β |
| Genetic Variant Associated With Survival of Patients With Stage II-III Colon Cancer. | Penney KL et al. | β | 2020 | β |
| Genetic variants associated with alcohol dependence co-ordinate regulation of ADH genes in gastrointestinal and adipose tissues. | Hibberd R et al. | β | 2020 | β |
| Genetic variants in epithelial-mesenchymal transition genes as predictors of clinical outcomes in localized prostate cancer. | Deng Y et al. | β | 2020 | β |
| Genetic variants of <i>BIRC3</i> and <i>NRG1</i> in the NLRP3 inflammasome pathway are associated with non-small cell lung cancer survival. | Tang D et al. | β | 2020 | β |
| Genetic Variants of the <i>MTMR</i>9 Gene Are Associated with Nonspecific Intellectual Disability: A Family-Based Association Study. | Shi Z et al. | β | 2020 | β |
| Genetic variation associated with childhood and adult stature and risk of MYCN-amplified neuroblastoma. | Semmes EC et al. | β | 2020 | β |
| Genetic variation in Charcot-Marie-Tooth genes contributes to sensitivity to paclitaxel-induced peripheral neuropathy. | Chen Y et al. | β | 2020 | β |
| Genetic variation in EPHA contributes to sensitivity to paclitaxel-induced peripheral neuropathy. | Marcath LA et al. | β | 2020 | β |
| Genome-wide association meta-analysis of corneal curvature identifies novel loci and shared genetic influences across axial length and refractive error. | Fan Q et al. | β | 2020 | β |
| Genome-Wide Association Study Data Reveal Genetic Susceptibility to Chronic Inflammatory Intestinal Diseases and Pancreatic Ductal Adenocarcinoma Risk. | Yuan F et al. | β | 2020 | β |
| Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations. | Cismaru AL et al. | β | 2020 | β |
| Genome-wide association study of prevalent and persistent cervical high-risk human papillomavirus (HPV) infection. | Adebamowo SN et al. | β | 2020 | β |
| Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders. | Price KM et al. | β | 2020 | β |
| Genome-wide meta-analysis identifies eight new susceptibility loci for cutaneous squamous cell carcinoma. | Sarin KY et al. | β | 2020 | β |
| Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. | de las Fuentes L et al. | β | 2020 | β |
| Genome-wide Study Identifies Association between HLA-B<sup>β</sup>55:01 and Self-Reported Penicillin Allergy. | Krebs K et al. | β | 2020 | β |
| Genomic resources for dissecting the role of non-protein coding variation in gene-environment interactions. | Levings D et al. | β | 2020 | β |
| Global and Regional Development of the Human Cerebral Cortex: Molecular Architecture and Occupational Aptitudes. | Shin J et al. | β | 2020 | β |
| Glucagon-like peptide-1 receptor and sarcoglycan delta genetic variants can affect cardiovascular risk in chronic kidney disease patients under hemodialysis. | Terranegra A et al. | β | 2020 | β |
| Human genetic determinants of the gut microbiome and their associations with health and disease: a phenome-wide association study. | Groot HE et al. | β | 2020 | β |
| Hyperprogression under Immune Checkpoint Inhibitor: a potential role for germinal immunogenetics. | Refae S et al. | β | 2020 | β |
| <i>CEACAM3</i> decreases asthma exacerbations and modulates respiratory syncytial virus latent infection in children. | Tsai CH et al. | β | 2020 | β |
| Identification of a functional 339 bp <i>Alu</i> insertion polymorphism in the schizophrenia-associated locus at 10q24.32. | Yang ZH et al. | β | 2020 | β |
| Identification of a functional human-unique 351-bp Alu insertion polymorphism associated with major depressive disorder in the 1p31.1 GWAS risk loci. | Liu W et al. | β | 2020 | β |
| Identification of Familial Hodgkin Lymphoma Predisposing Genes Using Whole Genome Sequencing. | Srivastava A et al. | β | 2020 | β |
| Identification of new susceptibility loci associated with rheumatoid arthritis. | Leng RX et al. | β | 2020 | β |
| IL-1B rs2853550 polymorphism contributes to esophageal cancer susceptibility in Chinese Han population of Northwest China. | Zhao R et al. | β | 2020 | β |
| Immune Cell Associations with Cancer Risk. | Palomero L et al. | β | 2020 | β |
| Immunogenetic markers in IL17F predict the risk of metastases spread and overall survival in rectal cancer patients treated with neoadjuvant chemoradiotherapy. | Cecchin E et al. | β | 2020 | β |
| Impact of Serum Calcium Levels on Alzheimer's Disease: A Mendelian Randomization Study. | He Y et al. | β | 2020 | β |
| Influence of Germline Genetics on Tacrolimus Pharmacokinetics and Pharmacodynamics in Allogeneic Hematopoietic Stem Cell Transplant Patients. | Zhu J et al. | β | 2020 | β |
| Integration analysis of methylation quantitative trait loci and GWAS identify three schizophrenia risk variants. | Yu H et al. | β | 2020 | β |
| Integration of GWAS and eQTL Analysis to Identify Risk Loci and Susceptibility Genes for Gastric Cancer. | Ni J et al. | β | 2020 | β |
| Interaction of <i>HULC</i> polymorphisms with <i>Helicobacter pylori</i> infection plays a strong role for the prediction of gastric cancer risk. | Wang BG et al. | β | 2020 | β |
| Intronic Variants in OCT1 are Associated with All-Cause and Cardiovascular Mortality in Metformin Users with Type 2 Diabetes. | Schweighofer N et al. | β | 2020 | β |
| <i>PNPT1</i> and <i>PCGF3</i> variants associated with angiotensin-converting enzyme inhibitor-induced cough: a nested case-control genome-wide study. | Mu G et al. | β | 2020 | β |
| Joint testing of donor and recipient genetic matching scores and recipient genotype has robust power for finding genes associated with transplant outcomes. | Arthur VL et al. | β | 2020 | β |
| Knowledge-based analyses reveal new candidate genes associated with risk of hepatitis B virus related hepatocellular carcinoma. | Jiang D et al. | β | 2020 | β |
| Lead exposure and its interactions with oxidative stress polymorphisms on lung function impairment: Results from a longitudinal population-based study. | Wei W et al. | β | 2020 | β |
| Leveraging Genome and Phenome-Wide Association Studies to Investigate Genetic Risk of Acute Lymphoblastic Leukemia. | Semmes EC et al. | β | 2020 | β |
| Linking genetic variation with epigenetic profiles in SjΓΆgren's syndrome. | Arvaniti P et al. | β | 2020 | β |
| Long noncoding RNA PVT1: A highly dysregulated gene in malignancy. | Ghafouri-Fard S et al. | β | 2020 | β |
| Mapping DNA interaction landscapes in psoriasis susceptibility loci highlights KLF4 as a target gene in 9q31. | Ray-Jones H et al. | β | 2020 | β |
| MassArray analysis of genomic susceptibility variants in ovarian cancer. | Verma S et al. | β | 2020 | β |
| Metastasis Associated Lung Adenocarcinoma Transcript 1: An update on expression pattern and functions in carcinogenesis. | Ghafouri-Fard S et al. | β | 2020 | β |
| Minor C allele of the SNP rs7873784 associated with rheumatoid arthritis and type-2 diabetes mellitus binds PU.1 and enhances TLR4 expression. | Korneev KV et al. | β | 2020 | β |
| Multi-ancestry GWAS of the electrocardiographic PR interval identifies 202 loci underlying cardiac conduction. | Ntalla I et al. | β | 2020 | β |
| Non-canonical RNA-DNA differences and other human genomic features are enriched within very short tandem repeats. | Yu H et al. | β | 2020 | β |
| Noncoding SNPs associated with increased GDF15 levels located in a metformin-activated enhancer region upstream of <i>GDF15</i>. | Linhares ND et al. | β | 2020 | β |
| Novel genetic variants in HDAC2 and PPARGC1A of the CREB-binding protein pathway predict survival of non-small-cell lung cancer. | Tang D et al. | β | 2020 | β |
| Osteoarthritis year in review 2019: genetics, genomics and epigenetics. | Reynard LN et al. | β | 2020 | β |
| Osteoporosis- and obesity-risk interrelationships: an epigenetic analysis of GWAS-derived SNPs at the developmental gene <i>TBX15</i>. | Zhang X et al. | β | 2020 | β |
| PBX-WNT-P63-IRF6 pathway in nonsyndromic cleft lip and palate. | Maili L et al. | β | 2020 | β |
| Pharmacogenetic score predicts overall survival, progression-free survival and platinum sensitivity in ovarian cancer. | Gagno S et al. | β | 2020 | β |
| Phenotypic and functional translation of IL1RL1 locus polymorphisms in lung tissue and asthmatic airway epithelium. | Portelli MA et al. | β | 2020 | β |
| Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis. | Zhang H et al. | β | 2020 | β |
| Polymorphisms in Processing and Antigen Presentation-Related Genes and Their Association with Host Susceptibility to Influenza A/H1N1 2009 Pandemic in a Mexican Mestizo Population. | Ponce-Gallegos MA et al. | β | 2020 | β |
| Polymorphisms in the Angiogenesis-Related Genes <i>EFNB2</i>, <i>MMP2</i> and <i>JAG1</i> Are Associated with Survival of Colorectal Cancer Patients. | Scherer D et al. | β | 2020 | β |
| Postadmixture Selection on Chileans Targets Haplotype Involved in Pigmentation, Thermogenesis and Immune Defense against Pathogens. | VicuΓ±a L et al. | β | 2020 | β |
| Potentially functional genetic variants in PLIN2, SULT2A1 and UGT1A9 genes of the ketone pathway and survival of nonsmall cell lung cancer. | Tang D et al. | β | 2020 | β |
| Predicting the effects of SNPs on transcription factor binding affinity. | Nishizaki SS et al. | β | 2020 | β |
| Reconstructing the blood metabolome and genotype using long-range chromatin interactions. | Fadason T et al. | β | 2020 | β |
| Refining genome-wide associated loci for serum uric acid in individuals with African ancestry. | Chen G et al. | β | 2020 | β |
| Regulation of inflammation in diabetes: From genetics to epigenomics evidence. | Diedisheim M et al. | β | 2020 | β |
| RIPK1 gene variants associate with obesity in humans and can be therapeutically silenced to reduce obesity in mice. | Karunakaran D et al. | β | 2020 | β |
| Risk of Wnt/Ξ²-catenin signalling pathway gene polymorphisms in primary SjΓΆgren's syndrome. | FernΓ‘ndez-Torres J et al. | β | 2020 | β |
| Role of OPRM1, clinical and anthropometric variants in neonatal pain reduction. | Erbi I et al. | β | 2020 | β |
| Sex modifies the association between the CLOCK variant rs1801260 and BMI in school-age children. | Meng Y et al. | β | 2020 | β |
| Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. | Dong J et al. | β | 2020 | β |
| Single-nucleotide polymorphism rs13426236 contributes to an increased prostate cancer risk via regulating MLPH splicing variant 4. | Xiao F et al. | β | 2020 | β |
| Smoking-by-genotype interaction in type 2 diabetes risk and fasting glucose. | Wu P et al. | β | 2020 | β |
| SNP-SNP Interaction in Genes Encoding PD-1/PD-L1 Axis as a Potential Risk Factor for Clear Cell Renal Cell Carcinoma. | Wagner M et al. | β | 2020 | β |
| Sorting nexin 1 loss results in increased oxidative stress and hypertension. | Yang J et al. | β | 2020 | β |
| Systematic analyses of genetic variants in chromatin interaction regions identified four novel lung cancer susceptibility loci. | Ji P et al. | β | 2020 | β |
| Telomere Maintenance Genes are associated with Type 2 Diabetes Susceptibility in Northwest Indian Population Group. | Sethi I et al. | β | 2020 | β |
| TERT-rs33963617 and CLPTM1L-rs77518573 reduce the risk of non-small cell lung cancer in Chinese population. | Ji Z et al. | β | 2020 | β |
| The decreased expression of IKBKE in systemic lupus erythematosus. | Zhu T et al. | β | 2020 | β |
| The derived allele of a novel intergenic variant at chromosome 11 associates with lower body mass index and a favorable metabolic phenotype in Greenlanders. | Andersen MK et al. | β | 2020 | β |
| The genome-wide risk alleles for psychiatric disorders at 3p21.1 show convergent effects on mRNA expression, cognitive function, and mushroom dendritic spine. | Yang Z et al. | β | 2020 | β |
| The HOTTIP (HOXA transcript at the distal tip) lncRNA: Review of oncogenic roles in human. | Ghafouri-Fard S et al. | β | 2020 | β |
| The <i>FAM171A2</i> gene is a key regulator of progranulin expression and modifies the risk of multiple neurodegenerative diseases. | Xu W et al. | β | 2020 | β |
| The rs594445 in MOCOS gene is associated with risk of autism spectrum disorder. | Taheri M et al. | β | 2020 | β |
| Transforming growth factor beta 1 (TGFΞ²1) plasmatic levels in breast cancer and neoplasia-free women: Association with patients' characteristics and TGFB1 haplotypes. | Vitiello GAF et al. | β | 2020 | β |
| Tumor necrosis factor (TNF)-Ξ±- 308 G/A gene polymorphism (rs1800629) in Egyptian patients with alopecia areata and vitiligo, a laboratory and in silico analysis. | Abd El-Raheem T et al. | β | 2020 | β |
| Turning genome-wide association study findings into opportunities for drug repositioning. | Lau A et al. | β | 2020 | β |
| Two novel pleiotropic loci associated with osteoporosis and abdominal obesity. | Liu L et al. | β | 2020 | β |
| Type 2 diabetes-associated polymorphisms correlate with SIRT1 and TGF-Ξ²1 gene expression. | RamΓrez Γ et al. | β | 2020 | β |
| Using functional genomics to advance the understanding of psoriatic arthritis. | Shi C et al. | β | 2020 | β |
| Variants associated with <i>HHIP</i> expression have sex-differential effects on lung function. | Fawcett KA et al. | β | 2020 | β |
| Variants in <i>SNAI1</i>, <i>AMDHD1</i> and <i>CUBN</i> in vitamin D pathway genes are associated with breast cancer risk: a large-scale analysis of 14 GWASs in the DRIVE study. | Wang H et al. | β | 2020 | β |
| Whole-exome sequencing and genome-wide association studies identify novel sarcopenia risk genes in Han Chinese. | Ran S et al. | β | 2020 | β |
| A Combined Transcriptomic and Genomic Analysis Identifies a Gene Signature Associated With the Response to Anti-TNF Therapy in Rheumatoid Arthritis. | Aterido A et al. | β | 2019 | β |
| A common SNP in the UNG gene decreases ovarian cancer risk in BRCA2 mutation carriers. | Baquero JM et al. | β | 2019 | β |
| A comparison of two workflows for regulome and transcriptome-based prioritization of genetic variants associated with myocardial mass. | Manduchi E et al. | β | 2019 | β |
| A comprehensive study of metabolite genetics reveals strong pleiotropy and heterogeneity across time and context. | Gallois A et al. | β | 2019 | β |
| ADGRL3 rs6551665 as a Common Vulnerability Factor Underlying Attention-Deficit/Hyperactivity Disorder and Autism Spectrum Disorder. | Kappel DB et al. | β | 2019 | β |
| A functional variant in SLC1A3 influences ADHD risk by disrupting a hsa-miR-3171 binding site: A two-stage association study. | Huang X et al. | β | 2019 | β |
| A genome-wide association study identifies genetic loci associated with specific lobar brain volumes. | van der Lee SJ et al. | β | 2019 | β |
| A genome wide association study identifies new genes potentially associated with eyelid sagging. | Laville V et al. | β | 2019 | β |
| A genome-wide association study identifies single nucleotide polymorphisms associated with time-to-metastasis in colorectal cancer. | Penney ME et al. | β | 2019 | β |
| A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process. | Thibord F et al. | β | 2019 | β |
| A GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. | Adhikari K et al. | β | 2019 | β |
| Allele-specific NKX2-5 binding underlies multiple genetic associations with human electrocardiographic traits. | Benaglio P et al. | β | 2019 | β |
| A method for genome-wide genealogy estimation for thousands of samples. | Speidel L et al. | β | 2019 | β |
| A multi-ancestry genome-wide study incorporating gene-smoking interactions identifies multiple new loci for pulse pressure and mean arterial pressure. | Sung YJ et al. | β | 2019 | β |
| Analysis of FOXO3 Gene Polymorphisms Associated with Human Longevity. | Donlon TA et al. | β | 2019 | β |
| An UNC5C Allele Predicts Cognitive Decline and Hippocampal Atrophy in Clinically Normal Older Adults. | Yang HS et al. | β | 2019 | β |
| A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. | Pendergrass SA et al. | β | 2019 | β |
| A phenomics-based approach for the detection and interpretation of shared genetic influences on 29 biochemical indices in southern Chinese men. | Hu Y et al. | β | 2019 | β |
| ARMC 5 Variants and Risk of Hypertension in Blacks: MH- GRID Study. | Zilbermint M et al. | β | 2019 | β |
| Association of OXTR rs53576 with the Developmental Trajectories of Callous-Unemotional Traits and Stressful Life Events in 3- to 9-Year-Old Community Children. | Ezpeleta L et al. | β | 2019 | β |
| Association of Regulatory Genetic Variants for Protein Kinase CΞ± with Mortality and Drug Efficacy in Patients with Heart Failure. | Luzum JA et al. | β | 2019 | β |
| Association of variants in HTRA1 and NOTCH3 with MRI-defined extremes of cerebral small vessel disease in older subjects. | Mishra A et al. | β | 2019 | β |
| Associations among NPPA gene polymorphisms, serum ANP levels, and hypertension in the Chinese Han population. | Zhang H et al. | β | 2019 | β |
| Associations of <i>IDUA</i> and <i>PTCH1</i> with Bone Mineral Density, Bone Turnover Markers, and Fractures in Chinese Elderly Patients with Osteoporosis. | Wang Q et al. | β | 2019 | β |
| Associations of Mitochondrial and Nuclear Mitochondrial Variants and Genes with Seven Metabolic Traits. | Kraja AT et al. | β | 2019 | β |
| Associations of variants In the hexokinase 1 and interleukin 18 receptor regions with oxyhemoglobin saturation during sleep. | Cade BE et al. | β | 2019 | β |
| BehΓ§et's disease and genetic interactions between HLA-B*51 and variants in genes of autoinflammatory syndromes. | Burillo-Sanz S et al. | β | 2019 | β |
| Benefits and limitations of genome-wide association studies. | Tam V et al. | β | 2019 | β |
| Beyond the Exome: The Non-coding Genome and Enhancers in Neurodevelopmental Disorders and Malformations of Cortical Development. | Perenthaler E et al. | β | 2019 | β |
| Biological characterization of expression quantitative trait loci (eQTLs) showing tissue-specific opposite directional effects. | Mizuno A et al. | β | 2019 | β |
| Chromatin Conformation Links Putative Enhancers in Intracranial Aneurysm-Associated Regions to Potential Candidate Genes. | Laarman MD et al. | β | 2019 | β |
| Cistrome Partitioning Reveals Convergence of Somatic Mutations and Risk Variants on Master Transcription Regulators in Primary Prostate Tumors. | Mazrooei P et al. | β | 2019 | β |
| Clinical and Genetic Predictors of Priapism in Sickle Cell Disease: Results from the Recipient Epidemiology and Donor Evaluation Study III Brazil Cohort Study. | Cintho Ozahata M et al. | β | 2019 | β |
| Clinical and Genome-wide Analysis of Cisplatin-induced Tinnitus Implicates Novel Ototoxic Mechanisms. | El Charif O et al. | β | 2019 | β |
| Clusterin in Alzheimer's Disease: Mechanisms, Genetics, and Lessons From Other Pathologies. | Foster EM et al. | β | 2019 | β |
| Complement Receptor 1 (CR1, CD35) Polymorphisms and Soluble CR1: A Proposed Anti-inflammatory Role to Quench the Fire of "Fogo Selvagem" Pemphigus Foliaceus. | Oliveira LC et al. | β | 2019 | β |
| Condemned or Not to Die? Gene Polymorphisms Associated With Cell Death in Pemphigus Foliaceus. | Bumiller-Bini V et al. | β | 2019 | β |
| Detection of Putative Functional Single Nucleotide Polymorphisms in Blood Pressure Loci and Validation of Association Between Single Nucleotide Polymorphism in WBP1L and Hypertension in the Chinese Han Population. | Zhang H et al. | β | 2019 | β |
| Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis. | Clark H et al. | β | 2019 | β |
| Different Methylation of CpG-SNPs in Behcet's Disease. | Huang Y et al. | β | 2019 | β |
| Discovery of common and rare genetic risk variants for colorectal cancer. | Huyghe JR et al. | β | 2019 | β |
| Disease-Associated SNPs in Inflammation-Related lncRNAs. | Castellanos-Rubio A et al. | β | 2019 | β |
| Disentangling the genetics of lean mass. | Karasik D et al. | β | 2019 | β |
| DNA methylation-based estimator of telomere length. | Lu AT et al. | β | 2019 | β |
| Effect of SNPs in HSP Family Genes, Variation in the mRNA and Intracellular Hsp Levels in COPD Secondary to Tobacco Smoking and Biomass-Burning Smoke. | Ambrocio-Ortiz E et al. | β | 2019 | β |
| Effects of PDE4 gene polymorphisms on efficacy and adverse drug events of ritodrine therapy in preterm labor patients: a prospective observational study. | Yee J et al. | β | 2019 | β |
| epiTAD: a web application for visualizing chromosome conformation capture data in the context of genetic epidemiology. | Creed JH et al. | β | 2019 | β |
| Examination of the associations between m<sup>6</sup>A-associated single-nucleotide polymorphisms and blood pressure. | Mo XB et al. | β | 2019 | β |
| Exploration of a diversity of computational and statistical measures of association for genome-wide genetic studies. | Manduchi E et al. | β | 2019 | β |
| Exploring Impact of Rare Variation in Systemic Lupus Erythematosus by a Genome Wide Imputation Approach. | MartΓnez-Bueno M et al. | β | 2019 | β |
| Exploring predictive biomarkers from clinical genome-wide association studies via multidimensional hierarchical mixture models. | Otani T et al. | β | 2019 | β |
| Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease. | Testori A et al. | β | 2019 | β |
| [Exploring the association between SPRY gene family and non-syndromic oral clefts among Chinese populations using data of a next-generation sequencing study]. | Zhou R et al. | β | 2019 | β |
| Exploring the underlying biology of intrinsic cardiorespiratory fitness through integrative analysis of genomic variants and muscle gene expression profiling. | Ghosh S et al. | β | 2019 | β |
| FeatSNP: An Interactive Database for Brain-Specific Epigenetic Annotation of Human SNPs. | Ma CY et al. | β | 2019 | β |
| Fine-mapping analysis of a chromosome 2 region linked to resistance to Mycobacterium tuberculosis infection in Uganda reveals potential regulatory variants. | Igo RP et al. | β | 2019 | β |
| Fine mapping and identification of serum urate loci in American Indians: The Strong Heart Family Study. | Chittoor G et al. | β | 2019 | β |
| Functional association between NUCKS1 gene and Parkinson disease: A potential susceptibility biomarker. | Singh S et al. | β | 2019 | β |
| Functional characterization of the C7ORF76 genomic region, a prominent GWAS signal for osteoporosis in 7q21.3. | Roca-Ayats N et al. | β | 2019 | β |
| Functional genetic variants can mediate their regulatory effects through alteration of transcription factor binding. | Johnston AD et al. | β | 2019 | β |
| Functional polymorphisms on chromosome 5p15.33 disturb telomere biology and confer the risk of non-small cell lung cancer in Chinese population. | Li Y et al. | β | 2019 | β |
| Gene-gene interaction among cell adhesion genes and risk of nonsyndromic cleft lip with or without cleft palate in Chinese case-parent trios. | Liu D et al. | β | 2019 | β |
| Genetic and Expression Analysis of COPI Genes and Alzheimer's Disease Susceptibility. | Yang Y et al. | β | 2019 | β |
| Genetic association of DNMT variants can play a critical role in defining the methylation patterns in autism. | Alex AM et al. | β | 2019 | β |
| Genetic Association of Olanzapine Treatment Response in Han Chinese Schizophrenia Patients. | Zhou W et al. | β | 2019 | β |
| Genetic Basis of Obesity and Type 2 Diabetes in Africans: Impact on Precision Medicine. | Doumatey AP et al. | β | 2019 | β |
| Genetic determinants of telomere length and risk of pancreatic cancer: A PANDoRA study. | Campa D et al. | β | 2019 | β |
| Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates AΞ², tau, immunity and lipid processing. | Kunkle BW et al. | β | 2019 | β |
| Genetic overlap between birthweight and adult cardiometabolic diseases has implications for genomic medicine. | Tekola-Ayele F et al. | β | 2019 | β |
| Genetic polymorphisms in genes of class switch recombination and multiple myeloma risk and survival: an IMMEnSE study. | Campa D et al. | β | 2019 | β |
| Genetic polymorphisms of PAX1 are functionally associated with different PUMC types of adolescent idiopathic scoliosis in a northern Chinese Han population. | Liu G et al. | β | 2019 | β |
| Genetic predictors of chemotherapy-related amenorrhea inΒ women with breast cancer. | Ruddy KJ et al. | β | 2019 | β |
| Genetic predisposition to B-cell acute lymphoblastic leukemia at 14q11.2 is mediated by a CEBPE promoter polymorphism. | Studd JB et al. | β | 2019 | β |
| Genetic regulatory mechanisms in human osteoclasts suggest a role for the STMP1 and DCSTAMP genes in Paget's disease of bone. | Mullin BH et al. | β | 2019 | β |
| Genetics of cognitive trajectory in Brazilians: 15 years of follow-up from the BambuΓ-Epigen Cohort Study of Aging. | Gouveia MH et al. | β | 2019 | β |
| Genetic validation study of protein tyrosine phosphatase receptor type D (PTPRD) gene variants and risk for antipsychotic-induced weight gain. | Maciukiewicz M et al. | β | 2019 | β |
| Genetic variability of the ABCC2 gene and clinical outcomes in pancreatic cancer patients. | Gentiluomo M et al. | β | 2019 | β |
| Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. | Chen K et al. | β | 2019 | β |
| Genetic variants in RUNX3, AMD1 and MSRA in the methionine metabolic pathway and survival in nonsmall cell lung cancer patients. | Chen K et al. | β | 2019 | β |
| Genetic variants in the liver kinase B1-AMP-activated protein kinase pathway genes and pancreatic cancer risk. | Xu X et al. | β | 2019 | β |
| Genetic variants of cGMP-dependent protein kinase genes and salt sensitivity of blood pressure: the GenSalt study. | Han C et al. | β | 2019 | β |
| Genetic variation associated with chromosomal aberration frequency: A genome-wide association study. | Niazi Y et al. | β | 2019 | β |
| Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. | Aterido A et al. | β | 2019 | β |
| Genetic variations in miR-125 family and the survival of non-small cell lung cancer in Chinese population. | Wu S et al. | β | 2019 | β |
| Genome-wide association analysis of common genetic variants of resistant hypertension. | El Rouby N et al. | β | 2019 | β |
| Genome-Wide Association and Functional Studies Reveal Novel Pharmacological Mechanisms for Allopurinol. | Brackman DJ et al. | β | 2019 | β |
| Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population. | Otsuka I et al. | β | 2019 | β |
| Genome-wide association study identifies novel loci for type 2 diabetes-attributed end-stage kidney disease in African Americans. | Guan M et al. | β | 2019 | β |
| Genome-wide association study in Chinese cohort identifies one novel hypospadias risk associated locus at 12q13.13. | Chen Z et al. | β | 2019 | β |
| Genome-Wide Association Study in Irradiated Childhood Cancer Survivors Identifies HTR2A forΒ Subsequent Basal Cell Carcinoma. | Sapkota Y et al. | β | 2019 | β |
| Genome-wide association study of cerebral small vessel disease reveals established and novel loci. | Chung J et al. | β | 2019 | β |
| Genome-wide association study of circulating folate one-carbon metabolites. | Wang J et al. | β | 2019 | β |
| Genome-Wide Association Study on the Early-Phase Insulin Response to a Liquid Mixed Meal: Results From the NEO Study. | Li-Gao R et al. | β | 2019 | β |
| Genome-wide enrichment of m<sup>6</sup>A-associated single-nucleotide polymorphisms in the lipid loci. | Mo X et al. | β | 2019 | β |
| Genome-wide interaction study of gene-by-occupational exposures on respiratory symptoms. | Zeng X et al. | β | 2019 | β |
| Genomic and transcriptomic association studies identify 16 novel susceptibility loci for venous thromboembolism. | LindstrΓΆm S et al. | β | 2019 | β |
| Genomic interrogation of familial short stature contributes to the discovery of the pathophysiological mechanisms and pharmaceutical drug repositioning. | Wong HS et al. | β | 2019 | β |
| Genomic variants within the long non-coding RNA H19 confer risk of breast cancer in Iranian population. | Safari MR et al. | β | 2019 | β |
| Germline Genetic Variants in GATA3 and Breast Cancer Treatment Outcomes in SWOG S8897 Trial and the Pathways Study. | Larsen V et al. | β | 2019 | β |
| Glutamate receptor metabotropic 7 (GRM7) gene polymorphisms in mood disorders and attention deficit hyperactive disorder. | Noroozi R et al. | β | 2019 | β |
| GRM7 polymorphisms and risk of schizophrenia in Iranian population. | Azari I et al. | β | 2019 | β |
| GWAS and enrichment analyses of non-alcoholic fatty liver disease identify new trait-associated genes and pathways across eMERGE Network. | Namjou B et al. | β | 2019 | β |
| GWAS for systemic sclerosis identifies multiple risk loci and highlights fibrotic and vasculopathy pathways. | LΓ³pez-Isac E et al. | β | 2019 | β |
| GWAS Identifies Risk Locus for Erectile Dysfunction and Implicates Hypothalamic Neurobiology and Diabetes in Etiology. | Bovijn J et al. | β | 2019 | β |
| GWAS of mosaic loss of chromosome Y highlights genetic effects on blood cell differentiation. | Terao C et al. | β | 2019 | β |
| Haploinsufficiency of ARHGAP42 is associated with hypertension. | Fjorder AS et al. | β | 2019 | β |
| HLA-F displays highly divergent and frequent haplotype lineages associated with different mRNA expression levels. | Buttura RV et al. | β | 2019 | β |
| Human genes influence the interaction between Streptococcus mutans and host caries susceptibility: a genome-wide association study in children with primary dentition. | Meng Y et al. | β | 2019 | β |
| <i>CLOCK</i> Polymorphisms in Attention-Deficit/Hyperactivity Disorder (ADHD): Further Evidence Linking Sleep and Circadian Disturbances and ADHD. | Carpena MX et al. | β | 2019 | β |
| Identification of microsatellite markers and their application in yellow catfish (<i>Pseudobagrus fulvidraco</i> Richardson, 1846) population genetics of Korea. | Yu JN et al. | β | 2019 | β |
| Identification of Phosphorylation Associated SNPs for Blood Pressure, Coronary Artery Disease and Stroke from Genome-wide Association Studies. | Wang X et al. | β | 2019 | β |
| Identification of Target Genes at Juvenile Idiopathic Arthritis GWAS Loci in Human Neutrophils. | Li J et al. | β | 2019 | β |
| Increased Risk of Multiple Outpatient Surgeries in African-American Carriers of <i>Transthyretin</i> Val122Ile Mutation Is Modulated by Non-Coding Variants. | Polimanti R et al. | β | 2019 | β |
| Inherited genetic susceptibility to acute lymphoblastic leukemia in Down syndrome. | Brown AL et al. | β | 2019 | β |
| Innovative strategies for annotating the "relationSNP" between variants and molecular phenotypes. | Miller JE et al. | β | 2019 | β |
| Integrating Genome-Wide Association Studies With Pathway Analysis and Gene Expression Analysis Highlights Novel Osteoarthritis Risk Pathways and Genes. | Gao F et al. | β | 2019 | β |
| Integrative analysis revealed potential causal genetic and epigenetic factors for multiple sclerosis. | Mo XB et al. | β | 2019 | β |
| Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density. | Qiu C et al. | β | 2019 | β |
| Investigating the energy crisis in Alzheimer disease using transcriptome study. | Dharshini SAP et al. | β | 2019 | β |
| Leveraging Human Genetics to Estimate Clinical Risk Reductions Achievable by Inhibiting Factor XI. | Georgi B et al. | β | 2019 | β |
| LncRNA NEAT1 polymorphisms and lung cancer susceptibility in a Chinese Northeast Han Population: A case-control study. | Wang S et al. | β | 2019 | β |
| Long noncoding RNA polymorphisms influence susceptibility to endemic pemphigus foliaceus. | Lobo-Alves SC et al. | β | 2019 | β |
| LPHN3 gene variations and susceptibility to ADHD in Chinese Han population: a two-stage case-control association study and gene-environment interactions. | Huang X et al. | β | 2019 | β |
| Major depressive disorder-associated SIRT1 locus affects the risk for suicide in women after middle age. | Hirata T et al. | β | 2019 | β |
| MAP3K1 rs889312 genotypes influence survival outcomes of Chinese gastric cancer patients who received adjuvant chemotherapy based on platinum and fluorouracil regimes. | Yang J et al. | β | 2019 | β |
| Mapping cis-regulatory chromatin contacts in neural cells links neuropsychiatric disorder risk variants to target genes. | Song M et al. | β | 2019 | β |
| Mechanistic Characterization of <i>RASGRP1</i> Variants Identifies an hnRNP-K-Regulated Transcriptional Enhancer Contributing to SLE Susceptibility. | Molineros JE et al. | β | 2019 | β |
| Meta-Analysis of Genome-Wide Association Studies Identifies Three Loci Associated With Stiffness Index of the Calcaneus. | Lu HF et al. | β | 2019 | β |
| Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry. | Hsu YH et al. | β | 2019 | β |
| Multiancestry Genome-Wide Association Study of Lipid Levels Incorporating Gene-Alcohol Interactions. | de Vries PS et al. | β | 2019 | β |
| Multi-ancestry genome-wide gene-smoking interaction study of 387,272 individuals identifies new loci associated with serum lipids. | Bentley AR et al. | β | 2019 | β |
| Multi-ancestry sleep-by-SNP interaction analysis in 126,926 individuals reveals lipid loci stratified by sleep duration. | Noordam R et al. | β | 2019 | β |
| Multiethnic Genome-Wide Association Study of Diabetic Retinopathy Using Liability Threshold Modeling of Duration of Diabetes and Glycemic Control. | Pollack S et al. | β | 2019 | β |
| Multi-trait genome-wide association study identifies new loci associated with optic disc parameters. | Bonnemaijer PWM et al. | β | 2019 | β |
| Neutrophil GM-CSF signaling in inflammatory bowel disease patients is influenced by non-coding genetic variants. | Venkateswaran S et al. | β | 2019 | β |
| New Evidence Supporting the Role of FBN1 in the Development of Adolescent Idiopathic Scoliosis. | Sheng F et al. | β | 2019 | β |
| Novel Genetic Locus Influencing Retinal Venular Tortuosity Is Also Associated With Risk of Coronary Artery Disease. | Veluchamy A et al. | β | 2019 | β |
| Novel locus for atopic dermatitis in African Americans and replication in European Americans. | Almoguera B et al. | β | 2019 | β |
| Nuclear-Mitochondrial interactions influence susceptibility to HIV-associated neurocognitive impairment. | Smieszek S et al. | β | 2019 | β |
| Omega-3 Fatty Acids and Genome-Wide Interaction Analyses Reveal DPP10-Pulmonary Function Association. | Xu J et al. | β | 2019 | β |
| OncoBase: a platform for decoding regulatory somatic mutations in human cancers. | Li X et al. | β | 2019 | β |
| Pandemrix-induced narcolepsy is associated with genes related to immunity and neuronal survival. | Hallberg P et al. | β | 2019 | β |
| Pharmacogenomics of Cisplatin-Induced Ototoxicity: Successes, Shortcomings, and Future Avenues of Research. | DrΓΆgemΓΆller BI et al. | β | 2019 | β |
| Pharmacogenomics of Vincristine-Induced Peripheral Neuropathy Implicates Pharmacokinetic and Inherited Neuropathy Genes. | Wright GEB et al. | β | 2019 | β |
| PLD4 is a genetic determinant to systemic lupus erythematosus and involved in murine autoimmune phenotypes. | Akizuki S et al. | β | 2019 | β |
| Pneumonia: host susceptibility and shared genetics with pulmonary function and other traits. | Khadzhieva MB et al. | β | 2019 | β |
| Polymorphisms in Long Noncoding RNA-Prostate Cancer-Associated Transcript 1 Are Associated with Lung Cancer Susceptibility in a Northeastern Chinese Population. | Bi Y et al. | β | 2019 | β |
| Potential functional variants in SMC2 and TP53 in the AURORA pathway genes and risk of pancreatic cancer. | Feng Y et al. | β | 2019 | β |
| Potential Interplay between Dietary Saturated Fats and Genetic Variants of the NLRP3 Inflammasome to Modulate Insulin Resistance and Diabetes Risk: Insights from a Meta-Analysis of 19Β 005 Individuals. | Murphy AM et al. | β | 2019 | β |
| Potentially functional genetic variants in the TNF/TNFR signaling pathway genes predict survival of patients with non-small cell lung cancer in the PLCO cancer screening trial. | Guo Y et al. | β | 2019 | β |
| Predicting functional variants in enhancer and promoter elements using RegulomeDB. | Dong S et al. | β | 2019 | β |
| Prefrontal Coexpression of Schizophrenia Risk Genes Is Associated With Treatment Response in Patients. | Pergola G et al. | β | 2019 | β |
| QBiC-Pred: quantitative predictions of transcription factor binding changes due to sequence variants. | Martin V et al. | β | 2019 | β |
| RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. | Lin H et al. | β | 2019 | β |
| Regulatory variants: from detection to predicting impact. | Rojano E et al. | β | 2019 | β |
| RIPK2 polymorphisms and susceptibility to tuberculosis in a Western Chinese Han population. | Song J et al. | β | 2019 | β |
| RSAT variation-tools: An accessible and flexible framework to predict the impact of regulatory variants on transcription factor binding. | Santana-Garcia W et al. | β | 2019 | β |
| RT States: systematic annotation of the human genome using cell type-specific replication timing programs. | Poulet A et al. | β | 2019 | β |
| Screening the full leucocyte receptor complex genomic region revealed associations with pemphigus that might be explained by gene regulation. | Farias TDJ et al. | β | 2019 | β |
| SEdb: a comprehensive human super-enhancer database. | Jiang Y et al. | β | 2019 | β |
| Shared genetic underpinnings of childhood obesity and adult cardiometabolic diseases. | Tekola-Ayele F et al. | β | 2019 | β |
| Single-Nucleotide Polymorphisms Sequencing Identifies Candidate Functional Variants at Prostate Cancer Risk Loci. | Zhang P et al. | β | 2019 | β |
| SNPs rs10224002 in PRKAG2 may disturb gene expression and consequently affect hypertension. | Mo X et al. | β | 2019 | β |
| Synergistic triad epistasis of epigenetic H3K27me modifier genes, EZH2, KDM6A, and KDM6B, in gastric cancer susceptibility. | Lee SW et al. | β | 2019 | β |
| Systems Approach to Identify Common Genes and Pathways Associated with Response to Selective Serotonin Reuptake Inhibitors and Major Depression Risk. | Srivastava A et al. | β | 2019 | β |
| TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes. | GonzΓ‘lez A et al. | β | 2019 | β |
| Targeted sequencing of linkage region in Dominican families implicates PRIMA1 and the SPATA7-PTPN21-ZC3H14-EML5-TTC8 locus in carotid-intima media thickness and atherosclerotic events. | Wang L et al. | β | 2019 | β |
| Tetraspanin CD82 Organizes Dectin-1 into Signaling Domains to Mediate Cellular Responses to <i>Candida albicans</i>. | Tam JM et al. | β | 2019 | β |
| The depression GWAS risk allele predicts smaller cerebellar gray matter volume and reduced SIRT1 mRNA expression in Chinese population. | Liu W et al. | β | 2019 | β |
| The <i>MS4A</i> gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk. | Deming Y et al. | β | 2019 | β |
| The Itaconate Pathway Is a Central Regulatory Node Linking Innate Immune Tolerance and Trained Immunity. | DomΓnguez-AndrΓ©s J et al. | β | 2019 | β |
| The research of ion channel-related gene polymorphisms with atrial fibrillation in the Chinese Han population. | Liu X et al. | β | 2019 | β |
| The Role of <i>MIR9-2</i> in Shared Susceptibility of Psychiatric Disorders during Childhood: A Population-Based Birth Cohort Study. | Tovo-Rodrigues L et al. | β | 2019 | β |
| The rs17084733 variant in the <i>KIT</i> 3' UTR disrupts a miR-221/222 binding site in gastrointestinal stromal tumour: a sponge-like mechanism conferring disease susceptibility. | Ravegnini G et al. | β | 2019 | β |
| The variant at TGFBRAP1 is significantly associated with type 2 diabetes mellitus and affects diabetes-related miRNA expression. | Yang S et al. | β | 2019 | β |
| Three novel genetic variants in NRF2 signaling pathway genes are associated with pancreatic cancer risk. | Yang W et al. | β | 2019 | β |
| Three Novel Loci for Infant Head Circumference Identified by a Joint Association Analysis. | Yang XL et al. | β | 2019 | β |
| TNFAIP3 genetic polymorphisms reduce ankylosing spondylitis risk in Eastern Chinese Han population. | Yang J et al. | β | 2019 | β |
| Transforming growth factor beta receptor II (TGFBR2) promoter region polymorphism in Brazilian breast cancer patients: association with susceptibility, clinicopathological features, and interaction with TGFB1 haplotypes. | Vitiello GAF et al. | β | 2019 | β |
| Variants in the PSCA gene associated with risk of cancer and nonneoplastic diseases: systematic research synopsis, meta-analysis and epidemiological evidence. | Cui H et al. | β | 2019 | β |
| Whole-Genome Sequencing of Childhood Cancer Survivors Treated with Cranial Radiation Therapy Identifies 5p15.33 Locus for Stroke: A Report from the St. Jude Lifetime Cohort Study. | Sapkota Y et al. | β | 2019 | β |
| X-chromosome association study reveals genetic susceptibility loci of nasopharyngeal carcinoma. | Zuo XY et al. | β | 2019 | β |
| A common regulatory variant in SLC35B4 influences the recurrence and survival of prostate cancer. | Huang EY et al. | β | 2018 | β |
| A genome-wide association study identifies an association between variants in EFCAB4B gene and periodontal disease in an Italian isolated population. | Bevilacqua L et al. | β | 2018 | β |
| A locus at 7p14.3 predisposes to refractory celiac disease progression from celiac disease. | Hrdlickova B et al. | β | 2018 | β |
| Alzheimer's Disease and Rheumatoid Arthritis: A Mendelian Randomization Study. | Cai Q et al. | β | 2018 | β |
| An Intergenic Variant rs9268877 Between HLA-DRA and HLA-DRB Contributes to the Clinical Course and Long-term Outcome of Ulcerative Colitis. | Lee HS et al. | β | 2018 | β |
| Apolipoprotein E region molecular signatures of Alzheimer's disease. | Kulminski AM et al. | β | 2018 | β |
| A Short Report on the Markov Property of DNA Sequences on 200-bp Genomic Units of ENCODE/Broad ChromHMM Annotations: A Computational Perspective. | Park HS | β | 2018 | β |
| A Short Report on the Markov Property of DNA Sequences on 200-bp Genomic Units of Roadmap Genomics ChromHMM Annotations: A Computational Perspective. | Park HS | β | 2018 | β |
| Association of Kir genes with blood pressure responses to dietary sodium intervention: the GenSalt study. | Gong X et al. | β | 2018 | β |
| Association of STAT6 gene variants with food allergy diagnosed by double-blind placebo-controlled food challenges. | van Ginkel CD et al. | β | 2018 | β |
| Association of the rs1870634 Variant in Long Intergenic Non-protein Coding RNA 841 with Coronary Artery Disease: A GWAS-Replication Study in an Iranian Population. | Tarighi S et al. | β | 2018 | β |
| Association study and mutation sequencing of genes on chromosome 15q11-q13 identified GABRG3 as a susceptibility gene for autism in Chinese Han population. | Wang L et al. | β | 2018 | β |
| A survey of microRNA single nucleotide polymorphisms identifies novel breast cancer susceptibility loci in a case-control, population-based study of African-American women. | Bensen JT et al. | β | 2018 | β |
| A vascular endothelial growth factor receptor gene variant is associated with susceptibility to acute respiratory distress syndrome. | Hernandez-Pacheco N et al. | β | 2018 | β |
| Biology and Clinical Implications of the 19q13 Aggressive Prostate Cancer Susceptibility Locus. | Gao P et al. | β | 2018 | β |
| Bivariate genome-wide association analysis strengthens the role of bitter receptor clusters on chromosomes 7 and 12 in human bitter taste. | Hwang LD et al. | β | 2018 | β |
| BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. | Lee JY et al. | β | 2018 | β |
| Chemotherapy-induced peripheral neuropathy: evidence from genome-wide association studies and replication within multiple myeloma patients. | Mahmoudpour SH et al. | β | 2018 | β |
| Colon-specific eQTL analysis to inform on functional SNPs. | Moreno V et al. | β | 2018 | β |
| Common genetic variation and novel loci associated with volumetric mammographic density. | Brand JS et al. | β | 2018 | β |
| Common genetic variation in the autoimmune regulator (AIRE) locus is associated with autoimmune Addison's disease in Sweden. | Eriksson D et al. | β | 2018 | β |
| Common Variant of POC5 Is Associated With the Susceptibility of Adolescent Idiopathic Scoliosis. | Xu L et al. | β | 2018 | β |
| Complement receptor 1 (CR1, CD35) association with susceptibility to leprosy. | Kretzschmar GC et al. | β | 2018 | β |
| Cross-ancestry genome-wide association analysis of corneal thickness strengthens link between complex and Mendelian eye diseases. | Iglesias AI et al. | β | 2018 | β |
| CXCL12 chemokine and CXCR4 receptor: association with susceptibility and prognostic markers in triple negative breast cancer. | Guembarovski AL et al. | β | 2018 | β |
| Detecting Differential Transcription Factor Activity from ATAC-Seq Data. | Tripodi IJ et al. | β | 2018 | β |
| Detection of m<sup>6</sup>A-associated SNPs as potential functional variants for coronary artery disease. | Mo XB et al. | β | 2018 | β |
| Detection of Significant Association Between Variants in Cannabinoid Receptor 1 Gene (<i>CNR1</i>) and Personality in African-American Population. | Yao Y et al. | β | 2018 | β |
| Discovery, fine-mapping, and conditional analyses of genetic variants associated with C-reactive protein in multiethnic populations using the Metabochip in the Population Architecture using Genomics and Epidemiology (PAGE) study. | Kocarnik JM et al. | β | 2018 | β |
| Elucidating the Underlying Functional Mechanisms of Breast Cancer Susceptibility Through Post-GWAS Analyses. | Rivandi M et al. | β | 2018 | β |
| Evaluation of TDP-43 proteinopathy and hippocampal sclerosis in relation to APOE Ξ΅4 haplotype status: a community-based cohort study. | Yang HS et al. | β | 2018 | β |
| Evaluation of WISP1 as a candidate gene for bone mineral density in the Old Order Amish. | Wang X et al. | β | 2018 | β |
| Extended HLA-G genetic diversity and ancestry composition in a Brazilian admixed population sample: Implications for HLA-G transcriptional control and for case-control association studies. | Oliveira MLG et al. | β | 2018 | β |
| Familial Cancer Variant Prioritization Pipeline version 2 (FCVPPv2) applied to a papillary thyroid cancer family. | Kumar A et al. | β | 2018 | β |
| Fine mapping of MHC region in lung cancer highlights independent susceptibility loci by ethnicity. | Ferreiro-Iglesias A et al. | β | 2018 | β |
| Functional characteristics of novel pancreatic Pax6 regulatory elements. | Buckle A et al. | β | 2018 | β |
| Functional Prediction of Chronic Kidney Disease Susceptibility Gene PRKAG2 by Comprehensively Bioinformatics Analysis. | Wang E et al. | β | 2018 | β |
| Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. | Jo Hodonsky C et al. | β | 2018 | β |
| Genetic Architecture of Adaptive Immune System Identifies Key Immune Regulators. | Lagou V et al. | β | 2018 | β |
| Genetic determinants and an epistasis of <i>LILRA3</i> and HLA-B*52 in Takayasu arteritis. | Terao C et al. | β | 2018 | β |
| Genetic determinants of childhood and adult height associated with osteosarcoma risk. | Zhang C et al. | β | 2018 | β |
| Genetic Modifiers of the Breast Tumor Microenvironment. | Flister MJ et al. | β | 2018 | β |
| Genetic polymorphisms in <i>CDH1</i> are associated with endometrial carcinoma susceptibility among Chinese Han women. | Geng YH et al. | β | 2018 | β |
| Genetic susceptibility markers for a breast-colorectal cancer phenotype: Exploratory results from genome-wide association studies. | Pande M et al. | β | 2018 | β |
| Genetic variant for behavioral regulation factor of executive function and its possible brain mechanism in attention deficit hyperactivity disorder. | Sun X et al. | β | 2018 | β |
| Genetic Variants Associated With Neurodegenerative Diseases Regulate Gene Expression in Immune Cell CD14+ Monocytes. | Sun JY et al. | β | 2018 | β |
| Genetic variants regulate NR1H3 expression and contribute to multiple sclerosis risk. | Zhang Y et al. | β | 2018 | β |
| Genetic variations in TAS2R3 and TAS2R4 bitterness receptors modify papillary carcinoma risk and thyroid function in Korean females. | Choi JH et al. | β | 2018 | β |
| Genome-wide analysis of genetic determinants of circulating factorΒ VII-activating protease (FSAP) activity. | Olsson M et al. | β | 2018 | β |
| Genome-Wide Association and Mechanistic Studies Indicate That Immune Response Contributes to Alzheimer's Disease Development. | Liu C et al. | β | 2018 | β |
| Genome-wide association meta-analysis of coronary artery disease and periodontitis reveals a novel shared risk locus. | Munz M et al. | β | 2018 | β |
| Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans. | Wu S et al. | β | 2018 | β |
| Genome-wide association studies suggest that APOL1-environment interactions more likely trigger kidney disease in African Americans with nondiabetic nephropathy than strong APOL1-second gene interactions. | Langefeld CD et al. | β | 2018 | β |
| Genome-Wide Association Study Identifies a Susceptibility Locus for Comitant Esotropia and Suggests a Parent-of-Origin Effect. | Shaaban S et al. | β | 2018 | β |
| Genome-wide association study identifies susceptibility loci for B-cell childhood acute lymphoblastic leukemia. | Vijayakrishnan J et al. | β | 2018 | β |
| Genome-wide association study identifies three novel susceptibility loci for systemic lupus erythematosus in Han Chinese. | Liu L et al. | β | 2018 | β |
| Genome-wide association study identifies two risk loci for tuberculosis in Han Chinese. | Zheng R et al. | β | 2018 | β |
| Genome-wide association study in Japanese females identifies fifteen novel skin-related trait associations. | Endo C et al. | β | 2018 | β |
| Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. | Vojinovic D et al. | β | 2018 | β |
| Genome-wide association study of primary open-angle glaucoma in continental and admixed African populations. | Bonnemaijer PWM et al. | β | 2018 | β |
| Genome-wide haplotype association analysis of primary biliary cholangitis risk in Japanese. | Im C et al. | β | 2018 | β |
| Genome-wide identification of m<sup>6</sup>A-associated SNPs as potential functional variants for bone mineral density. | Mo XB et al. | β | 2018 | β |
| Genome-Wide Identification of N<sup>6</sup>-Methyladenosine (m<sup>6</sup>A) SNPs Associated With Rheumatoid Arthritis. | Mo XB et al. | β | 2018 | β |
| Germline genetic variants in somatically significantly mutated genes in tumors are associated with renal cell carcinoma risk and outcome. | Shu X et al. | β | 2018 | β |
| Heritability and Genome-Wide Association Study of Plasma Cholesterol in Chinese Adult Twins. | Liu H et al. | β | 2018 | β |
| High and Low Levels of an NTRK2-Driven Genetic Profile Affect Motor- and Cognition-Associated Frontal Gray Matter in Prodromal Huntington's Disease. | Ciarochi JA et al. | β | 2018 | β |
| High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction. | Li G et al. | β | 2018 | β |
| High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. | Zhang P et al. | β | 2018 | β |
| Identification of an enhancer region within the TP63/LEPREL1 locus containing genetic variants associated with bladder cancer risk. | Dudek AM et al. | β | 2018 | β |
| Identification of genes and pathways in esophageal adenocarcinoma using bioinformatics analysis. | He F et al. | β | 2018 | β |
| Identification of Novel Functional Variants of SIN3A and SRSF1 among Somatic Variants in Acute Myeloid Leukemia Patients. | Min JW et al. | β | 2018 | β |
| Implication of OPRM1 A118G Polymorphism in Opioids Addicts in Pakistan: In vitro and In silico Analysis. | Ahmed M et al. | β | 2018 | β |
| In silico drug screening by using genome-wide association study data repurposed dabrafenib, an anti-melanoma drug, for Parkinson's disease. | Uenaka T et al. | β | 2018 | β |
| Integrative genomic analysis for the functional roles of <i>ITPKC</i> in bone mineral density. | Lu HF et al. | β | 2018 | β |
| Interleukin-1 Receptor Antagonist Is Associated With Pediatric Acute Respiratory Distress Syndrome and Worse Outcomes in Children With Acute Respiratory Failure. | Dahmer MK et al. | β | 2018 | β |
| Japanese GWAS identifies variants for bust-size, dysmenorrhea, and menstrual fever that are eQTLs for relevant protein-coding or long non-coding RNAs. | Hirata T et al. | β | 2018 | β |
| LSCC SNP variant regulates SOX2 modulation of VDAC3. | Chyr J et al. | β | 2018 | β |
| Mapping genetic variants for cranial vault shape in humans. | Roosenboom J et al. | β | 2018 | β |
| Meta-Analysis of Genome-Wide Association Studies Identifies Novel Functional CpG-SNPs Associated with Bone Mineral Density at Lumbar Spine. | Qiu C et al. | β | 2018 | β |
| Meta-analysis of Immunochip data of four autoimmune diseases reveals novel single-disease and cross-phenotype associations. | MΓ‘rquez A et al. | β | 2018 | β |
| MicroRNA-214-3p in the Kidney Contributes to the Development of Hypertension. | Liu Y et al. | β | 2018 | β |
| Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. | SmajlagiΔ D et al. | β | 2018 | β |
| Modified penetrance of coding variants by cis-regulatory variation contributes to disease risk. | Castel SE et al. | β | 2018 | β |
| Molecular Basis for Dysregulated Activation of NKX2-5 in the Vascular Remodeling of Systemic Sclerosis. | Dritsoula A et al. | β | 2018 | β |
| Molecular Relationships between Bronchial Asthma and Hypertension as Comorbid Diseases. | Bragina EY et al. | β | 2018 | β |
| Multi-ethnic genome-wide association study for atrial fibrillation. | Roselli C et al. | β | 2018 | β |
| Novel genetic associations for blood pressure identified via gene-alcohol interaction in up to 570K individuals across multiple ancestries. | Feitosa MF et al. | β | 2018 | β |
| Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes. | Charmet R et al. | β | 2018 | β |
| NT5C2 germline variants alter thiopurine metabolism and are associated with acquired NT5C2 relapse mutations in childhood acute lymphoblastic leukaemia. | Tulstrup M et al. | β | 2018 | β |
| Parkinson's disease and Alzheimer's disease: a Mendelian randomization study. | Han Z et al. | β | 2018 | β |
| Pharmacogenetic variants and response to neoadjuvant single-agent doxorubicin or docetaxel: a study in locally advanced breast cancer patients participating in the NCT00123929 phase 2 randomized trial. | Ruiz-Pinto S et al. | β | 2018 | β |
| Replicated associations of FADS1, MAD1L1, and a rare variant at 10q26.13 with bipolar disorder in Chinese population. | Zhao L et al. | β | 2018 | β |
| Risk Locus Identification Ties Alcohol Withdrawal Symptoms to SORCS2. | Smith AH et al. | β | 2018 | β |
| Risk SNP-Mediated Promoter-Enhancer Switching Drives Prostate Cancer through lncRNA PCAT19. | Hua JT et al. | β | 2018 | β |
| Subtype-specific clinical and prognostic relevance of tumor-expressed F5 and regulatory F5 variants in breast cancer: the CoCaV study. | Tinholt M et al. | β | 2018 | β |
| Systematic review and meta-analysis of genetic risk factors for neuropathic pain. | Veluchamy A et al. | β | 2018 | β |
| Targeted capture sequencing identifies novel genetic variations in Chinese patients with idiopathic inflammatory myopathies. | Peng QL et al. | β | 2018 | β |
| The correlation of copy number variations with longevity in a genome-wide association study of Han Chinese. | Zhao X et al. | β | 2018 | β |
| The European Collaborative Project on Inflammation and Vascular Wall Remodeling in Atherosclerosis - Intravascular Ultrasound (ATHEROREMO-IVUS) study. | de Boer S et al. | β | 2018 | β |
| The genetic prehistory of the Andean highlands 7000 years BP though European contact. | Lindo J et al. | β | 2018 | β |
| The N-terminal domain of unknown function (DUF959) in collagen XVIII is intrinsically disordered and highly O-glycosylated. | Kaur I et al. | β | 2018 | β |
| Transcriptomic context of <i>DRD1</i> is associated with prefrontal activity and behavior during working memory. | Fazio L et al. | β | 2018 | β |
| Type I Interferon Receptor Variants in Gene Regulatory Regions are Associated with Susceptibility to Cerebral Malaria in Malawi. | Feintuch CM et al. | β | 2018 | β |
| Variants at the APOE /C1/C2/C4 Locus Modulate Cholesterol Efflux Capacity Independently of High-Density Lipoprotein Cholesterol. | Low-Kam C et al. | β | 2018 | β |
| Variation in coagulation and fibrinolysis genes evaluated for their contribution to cerebrovascular complications in adults with bacterial meningitis in the Netherlands. | Kloek AT et al. | β | 2018 | β |
| Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. | Delgado-Vega AM et al. | β | 2018 | β |
| Whole-Genome Linkage Scan Combined With Exome Sequencing Identifies Novel Candidate Genes for Carotid Intima-Media Thickness. | Vojinovic D et al. | β | 2018 | β |