Annotation of functional variation in personal genomes using RegulomeDB.
paper
Cited
Public
- Authors
- Boyle, Alan P; Hong, Eurie L; Hariharan, Manoj; Cheng, Yong; Schaub, Marc A; Kasowski, Maya; Karczewski, Konrad J; Park, Julie; Hitz, Benjamin C; Weng, Shuai; Cherry, J Michael; Snyder, Michael
- Year
- 2012
- Journal
- Genome research
- PMID
- 22955989
- DOI
- 10.1101/gr.137323.112
- PMCID
- PMC3431494
As the sequencing of healthy and disease genomes becomes more commonplace, detailed annotation provides interpretation for individual variation responsible for normal and disease phenotypes. Current approaches focus on direct changes in protein coding genes, particularly nonsynonymous mutations that directly affect the gene product. However, most individual variation occurs outside of genes and, indeed, most markers generated from genome-wide association studies (GWAS) identify variants outside of coding segments. Identification of potential regulatory changes that perturb these sites will lead to a better localization of truly functional variants and interpretation of their effects. We have developed a novel approach and database, RegulomeDB, which guides interpretation of regulatory variants in the human genome. RegulomeDB includes high-throughput, experimental data sets from ENCODE and other sources, as well as computational predictions and manual annotations to identify putative regulatory potential and identify functional variants. These data sources are combined into a powerful tool that scores variants to help separate functional variants from a large pool and provides a small set of putative sites with testable hypotheses as to their function. We demonstrate the applicability of this tool to the annotation of noncoding variants from 69 full sequenced genomes as well as that of a personal genome, where thousands of functionally associated variants were identified. Moreover, we demonstrate a GWAS where the database is able to quickly identify the known associated functional variant and provide a hypothesis as to its function. Overall, we expect this approach and resource to be valuable for the annotation of human genome sequences.
A SNV (rs9261424) overlapping many regulatory features. (A) This SNV falls within peak regions for many ChIP-seq factors as well as DNase-seq peaks from multiple cell lines. (B) The same SNV overlaps a motif match to the NFKB motif and has been shown to alter binding. The signal tracks represent ChIP-seq peaks of NFKB at the SNV site for three individuals: homozygous to reference allele (G), heterozygous, and homozygous to alternate allele (C) (Kasowski et al. 2010).
Incidence of SNVs in features and categories. Average percent count of SNVs in each genomic feature (A) and in each RegulomeDB category (B). Although the differences between homozygous and heterozygous SNV counts are small, they are nevertheless significant (P < 5 Γ 10β15). Actual SNV count in features (C) and categories for the cell line GM12878 (D).
Protein coding and noncoding SNVs can be classified as potentially functional by Polyphen-2 and RegulomeDB, respectively. Heterozygous, damaging coding SNVs can act in conjunction with a heterozygous regulatory SNV on the opposite allele to create a compound heterozygote and loss of function on both alleles (one regulatory, the other coding).
TNFAIP3-associated SNV. (A) RegulomeDB results for rs117480515 which is likely a functional variant associated with systemic lupus erythematosus. (B) This SNV was the most likely to be functional in the associated region but might be missed in a standard study because it lies >20 kb downstream from its target. (C) An enlargement of the region around rs117480515 (red line) shows the overlap with a large number of functional elements (NFKB, purple; BCL, light blue; and DNase, green) as well as the motif for BCL.
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| Name | Type |
|---|---|
| 1000 Genomes Project | cohort |
| 69 normal individuals local | cohort |
| Alzheimer's disease | phenotype |
| Asian | cohort |
| BCL11A local | gene |
| BCLAF1 local | gene |
| binding site variant local | variant |
| brain synapses local | anatomy |
| CAPN1 local | gene |
| Category 1 local | cohort |
| causative SNV local | variant |
| ChIP-exo local | drug |
| coding variant | cohort |
| common variants | cohort |
| Complete Genomics local | cohort |
| Complete Genomics samples local | cohort |
| complex diseases | phenotype |
| compound heterozygous mutation local | variant |
| damaging mutation local | phenotype |
| dbSNP | cohort |
| disease | phenotype |
| DNA | drug |
| DNA-protein interaction local | phenotype |
| DNase I hypersensitive site local | drug |
| dsQTL local | drug |
| EBF1 local | gene |
| ENCODE project | cohort |
| ENCODE Project Consortium local | cohort |
| eQTLGen Consortium | cohort |
| eQTL information local | drug |
| eQTL SNV local | variant |
| European female local | phenotype |
| European population | cohort |
| exonic SNV local | variant |
| FAIRE local | drug |
| functional SNV local | variant |
| functional SNVs | variant |
| functional variant | variant |
| GENCODE v7 local | drug |
| gene | gene |
| gene expression | phenotype |
| Gm12878 | cohort |
| GWAS | cohort |
| GWAS-lead SNVs local | variant |
| GWAS region local | phenotype |
| heterozygous damaging variant local | variant |
| heterozygous regulatory variant local | variant |
| heterozygous variant local | variant |
| histone | drug |
| histone ChIP-seq local | drug |
| homozygous variant local | variant |
| indel | variant |
| less common variants local | variant |
| linkage SNVs local | variant |
| MEF2A | gene |
| MEF2C | gene |
| NCBI Sequence Read Archive local | cohort |
| NF-ΞΊB | gene |
| noncoding variant | variant |
| nucleotide | drug |
| personal genomes local | cohort |
| phenotypic outcomes local | phenotype |
| Polyphen2 | drug |
| proteinβDNA interaction local | phenotype |
| PWM | drug |
| rare variant | cohort |
| regulatory variant | variant |
| RegulomeDB local | cohort |
| RegulomeDB | drug |
| RegulomeDB SNV local | variant |
| risk haplotype local | variant |
| RNA | drug |
| RNA Pol 2 local | gene |
| rs10895991 local | variant |
| rs117480515 local | variant |
| SNV | variant |
| SNVs | variant |
| SV local | variant |
| systemic lupus erythematosus | phenotype |
| TF ChIP-seq local | drug |
| TF ChIP-seq data local | drug |
| TNFAIP3 | gene |
| transcription factor | drug |
| UCSC Table Browser local | drug |
| Variant in Figure 1 local | variant |
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| A genetically informed brain atlas for enhancing brain imaging genomics. | Bao J et al. | β | 2025 | β |
| A genome-wide association study identifies new loci associated with response to SARS-CoV-2 mRNA-1273 vaccine in a cohort of healthy healthcare workers. | Cabrera-Serrano AJ et al. | β | 2025 | β |
| A Genome-Wide Association Study of Anti-MΓΌllerian Hormone (AMH) Levels in Samoan Women. | Erdogan-Yildirim Z et al. | β | 2025 | β |
| A genome-wide association study of European advanced cancer patients treated with opioids identifies regulatory variants on chromosome 20 associated with pain intensity. | Minnai F et al. | β | 2025 | β |
| A genome-wide association study using HapMap cell lines reveals modulators of cellular response to cyclophosphamide. | Gbadamosi MO et al. | β | 2025 | β |
| A genome-wide SNP-SNP interaction analysis exploring novel interacting loci associated with the risk of recurrence in colorectal cancer. | Curtis AA et al. | β | 2025 | β |
| A large-scale genome-wide association study on female genital tract polyps highlights role of DNA repair, cell proliferation, and cell growth. | Pathare ADS et al. | β | 2025 | β |
| A large-scale genome-wide study of gene-sleep duration interactions for blood pressure in 811,405 individuals from diverse populations. | Nagarajan P et al. | β | 2025 | β |
| Allele-Specific Regulation of PAXIP1-AS1 by SMC3/CEBPB at rs112651172 in Psychiatric Disorders Drives Synaptic and Behavioral Dysfunctions in Mice. | Ni C et al. | β | 2025 | β |
| Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin. | Song J et al. | β | 2025 | β |
| Analysis of genetic polymorphism and expression of SOX2 in oral leukoplakia: a case-control study. | Scheifer ST et al. | β | 2025 | β |
| Annotation and assessment of functional variants in livestock through epigenomic data. | Ma R et al. | β | 2025 | β |
| Association of Functional Gene Variants in DYSF-ZNF638, MTSS1 and Ferroptosis-Related Genes with Multiple Sclerosis Severity and Target Gene Expression. | Djuric T et al. | β | 2025 | β |
| Association of SULT2A1 Locus With Abiraterone Clearance in the Alliance A031201: Randomized Phase III Study of Enzalutamide Compared With Enzalutamide Plus Abiraterone for Metastatic Castration-Resistant Prostate Cancer. | Norton N et al. | β | 2025 | β |
| Association of ZNF608 Polymorphisms With House Dust Mite-Induced Allergic Rhinitis. | Li H et al. | β | 2025 | β |
| Brain region and cell specificity of <i>B4GALT6</i> in mice with depressive-like behavior: A pilot study. | Zhang SN et al. | β | 2025 | β |
| BTS: a scalable Bayesian Tissue Score for prioritizing GWAS variants and their functional contexts across >1000s of omics datasets. | Kuksa PP et al. | β | 2025 | β |
| Causal Variants in CHRNA1 and CHRNB1 Genes for Anti-acetylcholine Receptor Antibody Positive Myasthenia Gravis: Evidence from Bayesian Fine-Mapping and Genetic Association Study. | Garai N et al. | β | 2025 | β |
| Chromogranin a gene variants influence survival at old age through pleiotropic effects on multiple age-related traits. | Crocco P et al. | β | 2025 | β |
| Chromosome X-wide common variant association study in autism spectrum disorder. | Mendes M et al. | β | 2025 | β |
| Comprehensive Genome-Wide Analysis of Shared Genetic Factors in Gastrointestinal and Neurodegenerative Diseases. | Jiang Y et al. | β | 2025 | β |
| Contribution of leukocyte telomere length to cardiovascular disease onset from genome-wide cross-trait analysis. | Qiao J et al. | β | 2025 | β |
| Data navigation on the ENCODE portal. | Kagda MS 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 |
| Deconstructing the GWAS library: next-generation GWAS. | Zhang W et al. | β | 2025 | β |
| Epistasis regulates genetic control of cardiac hypertrophy. | Wang Q et al. | β | 2025 | β |
| Evaluation of SIRT1 Protein Levels and SIRT1/rs7895833 Distributions in Turkish Patients With Obstructive Sleep Apnea. | Yaman M et al. | β | 2025 | β |
| Exploring the early drivers of pain in Parkinson's disease. | Liu S et al. | β | 2025 | β |
| Exploring the Genetic Underpinnings of Diffusion Tensor Image Analysis Along the Perivascular Space: A Genome-Wide Correlation Study and Implications for Brain Health. | Wu J et al. | β | 2025 | β |
| Exploring the relationship between melanopsin gene variants, sleep, and markers of brain health. | Milligan Armstrong A et al. | β | 2025 | β |
| Functional Annotation of Bipolar Disorder 2 Risk Location Implicates Novel Susceptibility Genes. | Can GΕ et al. | β | 2025 | β |
| Functional genomics of human skeletal development and the patterning of height heritability. | Richard D et al. | β | 2025 | β |
| Functional <i>MPO</i> Polymorphisms and Haplotypes Affect Both Myeloperoxidase Levels and Association with Hypertensive Disorders of Pregnancy. | Alves Pereira D et al. | β | 2025 | β |
| Functionally-informed fine-mapping identifies genetic variants linking increased CHD1L expression and HIV restriction in monocytes. | Tough RH et al. | β | 2025 | β |
| Functional Polymorphisms Regulate FOXO1 Transcript Expression and Contribute to the Risk and Symptom Severity of HDM-Induced Allergic Rhinitis. | Sio YY et al. | β | 2025 | β |
| Genetic and neural mechanisms shared by schizophrenia and depression. | Xie Y et al. | β | 2025 | β |
| Genetic and transcriptional dysregulation of innate antiviral immune pathways in type 1 diabetes. | MΓΈnsted MΓ et al. | β | 2025 | β |
| Genetic Architecture of Idiopathic Inflammatory Myopathies From Meta-Analyses. | Zhu C et al. | β | 2025 | β |
| Genetic Correlations and Causalities between Alzheimer's Disease and 35 Biomarkers in Blood and Urine. | Zhang S 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 determinants and genomic consequences of non-leukemogenic somatic point mutations. | Weinstock JS et al. | β | 2025 | β |
| Genetic modulation of lncPSMB1 confers non-syndromic cleft lip with or without cleft palate susceptibility by promoting cell apoptosis. | Li X et al. | β | 2025 | β |
| Genetic Nurture Effects on Type 2 Diabetes Among Chinese Han Adults: A Family-Based Design. | Li X et al. | β | 2025 | β |
| Genetic overlap between household income and psychiatric disorders. | Zhang J 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 Risk Variants for Multiple Sclerosis and Other Loci Linked to Intrathecal Immunoglobulin G Synthesis. | Pukaj A et al. | β | 2025 | β |
| Genetic susceptibility and environmental risk factors in bladder cancer: Evidence from the UK biobank. | Bukavina L et al. | β | 2025 | β |
| Genetic susceptibility to lung squamous cell carcinoma: new insights on 9q33.2 variants and tobacco smoking. | Ma H 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 associated with chronic postsurgical pain: evidence from the China Surgery and Anaesthesia Cohort study. | Song J et al. | β | 2025 | β |
| Genetic variants in insulin, leptin, and their receptors are associated with overweight in a Brazilian asthma cohort. | Coelho R 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 Variation in the Alternative Complement Pathway Contributes to Individual Susceptibility to Bacteremia and Sepsis. | Inman K et al. | β | 2025 | β |
| Genetic Variations in Bitter Taste Receptors and COVID-19 in the Canadian Longitudinal Study on Aging. | Shafizadeh M 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 topology analysis and transcriptomics of human osteoclasts reveals enhancer-promoter interactions at loci for bone traits and diseases. | Wilson SG et al. | β | 2025 | β |
| Genome-wide analysis identifies novel shared loci between depression and white matter microstructure. | Zhao Q 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 analysis identifies fucosyltransferase 2 variants associated with pancreatic intraductal papillary mucinous neoplasms. | Gaitanidis A et al. | β | 2025 | β |
| Genome-wide association studies of TDP-43 proteinopathy and hippocampal sclerosis reveal shared genetic associations with APOE and TMEM106B. | Godrich D et al. | β | 2025 | β |
| Genome-wide association study for lung cancer in 6531 African Americans reveals new susceptibility loci. | Byun J et al. | β | 2025 | β |
| Genome Wide Association Study (GWAS) Identifies Novel Genetic Loci for Second-Generation Antipsychotics (SGA)-Induced Metabolic Syndrome (MetS). | El Rouby N et al. | β | 2025 | β |
| Genome-Wide Association Study Identifies a Locus at 17p13 to Be Associated With Intestinal Malrotation. | Gaitanidis A et al. | β | 2025 | β |
| Genome-wide association study of childhood B-cell acute lymphoblastic leukemia reveals novel African ancestry-specific susceptibility loci. | Im C et al. | β | 2025 | β |
| Genome-wide association study of long COVID. | Lammi V 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 of pulpal and apical diseases. | Salminen A et al. | β | 2025 | β |
| Genome-Wide Association Study on Muscle Stiffness Identified Novel Locus for Predisposition to Muscle Strain Injury. | Miyamoto-Mikami E 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 association study provides insights into the genetic basis of Lewy body dementia. | Zhu P et al. | β | 2025 | β |
| Genome-Wide Association Study Reveals Genetic Architecture of Common Epilepsies. | Thakran S et al. | β | 2025 | β |
| Genome-Wide Association Study to Identify Genetic Variants Associated With Diabetic Maculopathy. | Gurung RL 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 Pleiotropy Analysis Reveals Shared Genetic Associations between Type 2 Diabetes Mellitus and Subcortical Brain Volumes. | Zhao Q 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 |
| Global and Sex-Stratified Genome-Wide Association Study of Long COVID Based on Patient-Driven Symptom Recall. | Polo-Alonso S 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 |
| Haplotype-based association between paternal DNMT1 variants and nonsyndromic cleft lip or without cleft palate in Chile. | Inostroza V et al. | β | 2025 | β |
| Host Genetic Variants Associated With Helicobacter pylori Infection: A Meta-Analysis Combined With Functional Annotation. | Zhao WJ et al. | β | 2025 | β |
| Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing. | Yoon JG et al. | β | 2025 | β |
| Identification of functional non-coding variants associated with orofacial cleft. | Kumari P et al. | β | 2025 | β |
| Identification of gene-sun exposure interactions of GWAS-identified variants in perceived facial aging progression. | Obry L et al. | β | 2025 | β |
| Identification of genetic architecture shared between schizophrenia and Alzheimer's disease. | Liu H et al. | β | 2025 | β |
| Identification of MMP14 and MKLN1 as colorectal cancer susceptibility genes and drug-repositioning candidates from a genome-wide association study. | Yun D 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 |
| Identifying common genetic etiologies between iridocyclitis and related immune-mediated diseases. | Liu Z et al. | β | 2025 | β |
| In Silico Characterization of Pathogenic <i>ESR2</i> Coding and UTR Variants as Oncogenic Potential Biomarkers in Hormone-Dependent Cancers. | Al-Nakhle H et al. | β | 2025 | β |
| Integrated Genomic-Metabolomic Analysis for Tri-Categorical Classification of Type 2 Diabetes Status in the Korean Ansan-Ansung Cohort. | Cha J et al. | β | 2025 | β |
| Integrative Analysis of Whole-Genome and Transcriptomic Data Reveals Novel Variants in Differentially Expressed Long Noncoding RNAs Associated with Asthenozoospermia. | Kyrgiafini MA et al. | β | 2025 | β |
| Integrative In Silico Analysis to Identify Functional and Structural Impacts of nsSNPs on Programmed Cell Death Protein 1 (PD-1) Protein and UTRs: Potential Biomarkers for Cancer Susceptibility. | Al-Nakhle H et al. | β | 2025 | β |
| Integrative proteogenomic analysis identifies COL6A3-derived endotrophin as a mediator of the effect of obesity on coronary artery disease. | Yoshiji S et al. | β | 2025 | β |
| Interaction of genetic variants and methylation in transcript-level expression regulation in Alzheimer's disease by multi-omics data analysis. | Han S et al. | β | 2025 | β |
| Large-scale multi-trait genome-wide analysis for inflammatory bowel disease reveals new insights into its molecular mechanisms and emphasizes the roles of systemic immune regulation. | Zhu Z et al. | β | 2025 | β |
| <i>BTN2A1</i> and <i>BTN3A1</i> as Novel Coeliac Disease Risk Loci: An In Silico Analysis. | Luu Hoang KN et al. | β | 2025 | β |
| <i>CD274</i> (<i>PD-L1</i>) Polymorphisms as Predictors of Efficacy in First-Line Platinum-Based Chemotherapy for Extensive-Stage Small Cell Lung Cancer. | Barba A et al. | β | 2025 | β |
| <i>FST</i> Polymorphisms Associate with Musculoskeletal Traits and Modulate Exercise Response Differentially by Sex and Modality in Northern Han Chinese Adults. | Cao W 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 and genetic insights into human ovarian aging from single-nuclei multi-omics analyses. | Jin C et al. | β | 2025 | β |
| Multi-ancestry genome-wide meta-analysis of 56,241 individuals identifies known and novel cross-population and ancestry-specific associations as novel risk loci for Alzheimer's disease. | Rajabli F et al. | β | 2025 | β |
| Multi-ancestry meta-analysis of keloids uncovers novel susceptibility loci in diverse populations. | Greene CA et al. | β | 2025 | β |
| Multigene overlap analysis of bipolar disorder subtypes and educational attainment. | Zhang J et al. | β | 2025 | β |
| Multi-omics and comprehensive multi-trait analysis identify shared genetic etiology of heart failure and related cancers. | Shui W et al. | β | 2025 | β |
| Multi-omics integration analysis of the amino-acid metabolism-related genes identifies putatively causal variants of ACCS associated with hepatitis B virus-related hepatocellular carcinoma survival. | Wei X et al. | β | 2025 | β |
| Multitrait GWAS of non-suicidal self-injury and the polygenetic effects on child psychopathology and brain structures. | Sun Y et al. | β | 2025 | β |
| Navigating the Strengths and Constraints of Mouse Models in Obesity Research. | Delhanty PJD et al. | β | 2025 | β |
| Neutrophils restricted contribution of <i>CCRL2</i> genetic variants to COVID-19 severity. | Laffranchi M et al. | β | 2025 | β |
| New insights into genetic comorbidity mechanisms: type 2 diabetes and primary open-angle glaucoma. | Wang Y 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 |
| Peripheral Macular Endothelial Dystrophy: Clinical, Histopathologic, Genetic and Functional Characterization. | Zhang W 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 |
| Polygenic overlap with granulocyte counts identifies novel loci for clozapine metabolism and clozapine-induced agranulocytosis. | Koch E et al. | β | 2025 | β |
| Polymorphisms in <i>CACNA1A</i>, <i>CACNA1C</i>, and <i>CACNA1H</i> Genes in Korean Pediatric Patients with Developmental Delay and Intellectual Disability: A Focus on Epilepsy Comorbidity. | Han JY | β | 2025 | β |
| Positive Selection in Aggression-Linked Genes and Their Protein Interaction Networks. | Awadi A 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 |
| Shared genetic architecture between leukocyte telomere length and Alzheimer's disease. | Cao Z et al. | β | 2025 | β |
| Shared neuroimaging and molecular profiles in type 2 diabetes mellitus and major depressive disorder: an integrative analysis of genetic, transcriptomic, and neuroimaging data. | Xu J et al. | β | 2025 | β |
| Systematically identification of survival-associated eQTLs in a Japanese kidney cancer cohort. | Song X et al. | β | 2025 | β |
| Systematic review and independent validation of genetic factors of radiographic outcome in rheumatoid arthritis identifies a genome-wide association with CARD9. | Sharma SD et al. | β | 2025 | β |
| The APOL1 p.N264K variant is co-inherited with the G2 kidney disease risk variant through a proximity recombination event. | Simeone CA et al. | β | 2025 | β |
| The brief resilience scale: a genome-wide association study in the UK Biobank. | Cornelis MC 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 |
| The Influence of Pharmacogenetic Factors on the Pharmacokinetics of Morphine and Its Metabolites in Pediatric Patients: A Systematic Review. | Mufti K et al. | β | 2025 | β |
| The relationship between vitamin D levels and depression: a genetically informed study. | Lyu H et al. | β | 2025 | β |
| The rs139226362 (delGATT) variant in the <i>NTS</i> gene alters plasma neurotensin levels in schizophrenia. | Pirim D et al. | β | 2025 | β |
| The shared genetic architecture between schizophrenia and common peripheral organ imaging phenotypes. | Xie Y et al. | β | 2025 | β |
| TRAF6 Exerts Tumor-Promoting Effects via Genetic and Autophagic Modulation in Gastric Cancer. | Zou Y et al. | β | 2025 | β |
| UCP3 gene variants and obesity in a Pakistani sample population. | Bhatti AA et al. | β | 2025 | β |
| Unraveling the Shared Genetic Architecture and Polygenic Overlap Between Loneliness, Major Depressive Disorder, and Sleep-Related Traits. | Rehman Z et al. | β | 2025 | β |
| Variants in the DDX6-CXCR5 autoimmune disease risk locus influence the regulatory network in immune cells and salivary gland. | Wiley MM et al. | β | 2025 | β |
| Variant-to-function approaches for adipose tissue: Insights into cardiometabolic disorders. | Metz S et al. | β | 2025 | β |
| Whole exon screening of SLC2A4 gene and the association of rs5435 with type 2 diabetes in a Bangladeshi case-control study. | Rashid MM et al. | β | 2025 | β |
| A comprehensive in silico investigation into the pathogenic SNPs in the RTEL1 gene and their biological consequences. | Tanshee RR et al. | β | 2024 | β |
| A cross-ancestry genome-wide meta-analysis, fine-mapping, and gene prioritization approach to characterize the genetic architecture of adiponectin. | Sarsani V et al. | β | 2024 | β |
| A Genome-Wide Association Study of Respiratory Syncytial Virus Infection Severity in Infants. | Johnson M et al. | β | 2024 | β |
| A genome-wide association study of social trust in 33,882 Danish blood donors. | Sequeros CB et al. | β | 2024 | β |
| A Genome-Wide Association Study Reveals aΒ Novel Susceptibility Locus for Pancreas Divisum at 3q29. | Gaitanidis A 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 |
| Aldehydes alter TGF-Ξ² signaling and induce obesity and cancer. | Yang X et al. | β | 2024 | β |
| Allele-Specific Regulation of the Candidate Autism Liability Gene <i>RAI1</i> by the Enhancer Variant rs4925102 (<i>C/G</i>). | Yuan X et al. | β | 2024 | β |
| Ancestry Specific Polygenic Risk Score, Dietary Patterns, Physical Activity, and Cardiovascular Disease. | Hardy DS et al. | β | 2024 | β |
| A regulatory variant impacting TBX1 expression contributes to basicranial morphology in Homo sapiens. | Funato N et al. | β | 2024 | β |
| Association of CCR6 functional polymorphisms with Primary Biliary Cholangitis. | Zhang M et al. | β | 2024 | β |
| Association of CIITA (rs8048002) and CLEC2D (rs2114870) gene variants and type 1 diabetes mellitus. | El-Fadeal NMA et al. | β | 2024 | β |
| Association of DNA methylation, polymorphism and mRNA level of ALAS1 with antituberculosis drug-induced liver injury. | Hao Z et al. | β | 2024 | β |
| Association of Single Nucleotide Polymorphisms (SNPs) of Chemoattractant Receptor23 (ChemR23) Gene with Susceptibility to Allergic Rhinitis. | Daneshfar N et al. | β | 2024 | β |
| Atopic dermatitis-associated genetic variants regulate LOC100294145 expression implicating interleukin-27 production and type 1 interferon signaling. | Teo WY et al. | β | 2024 | β |
| Causal associations and shared genetic etiology of neurodegenerative diseases with epigenetic aging and human longevity. | Guo Y et al. | β | 2024 | β |
| Characterizing the pathogenicity of genetic variants: the consequences of context. | Ciesielski TH et al. | β | 2024 | β |
| Chromosome X-wide association study in case control studies of pathologically confirmed Alzheimer's disease in a European population. | Simmonds E et al. | β | 2024 | β |
| Clinical and genetic risk factors for progressive fibrosis in metabolic dysfunction-associated steatotic liver disease. | Kaplan DE et al. | β | 2024 | β |
| Common variation in a long non-coding RNA gene modulates variation of circulating TGF-Ξ²2 levels in metastatic colorectal cancer patients (Alliance). | Quintanilha JCF et al. | β | 2024 | β |
| Comprehensive characterization of coding and non-coding single nucleotide polymorphisms of the Myoneurin (MYNN) gene using molecular dynamics simulation and docking approaches. | Mou SI et al. | β | 2024 | β |
| Comprehensive characterization of high-risk coding and non-coding single nucleotide polymorphisms of human CXCR4 gene. | Sarkar B et al. | β | 2024 | β |
| Computational exploration of <i>SLC14A1</i> genetic variants through structure modeling, protein-ligand docking, and molecular dynamics simulation. | Sultana T et al. | β | 2024 | β |
| Coordination among frequent genetic variants imparts substance use susceptibility and pathogenesis. | Veerappa A et al. | β | 2024 | β |
| Cytokine Gene Variants as Predisposing Factors for the Development and Progression of Coronary Artery Disease: A Systematic Review. | Li F et al. | β | 2024 | β |
| Decoding Non-coding Variants: Recent Approaches to Studying Their Role in Gene Regulation and Human Diseases. | PeΓ±a-MartΓnez EG et al. | β | 2024 | β |
| Deletion of a conserved genomic region associated with adolescent idiopathic scoliosis leads to vertebral rotation in mice. | McCallum-Loudeac J et al. | β | 2024 | β |
| Dissecting the shared genetic architecture between Alzheimer's disease and frailty: a cross-trait meta-analyses of genome-wide association studies. | Enduru N et al. | β | 2024 | β |
| Dynamics of cognitive variability with age and its genetic underpinning in NIHR BioResource Genes and Cognition cohort participants. | Rahman MS et al. | β | 2024 | β |
| Early and late-onset preeclampsia: effects of DDAH2 polymorphisms on ADMA levels and association with DDAH2 haplotypes. | Mendes FS et al. | β | 2024 | β |
| Elucidating the role of MLL1 nsSNPs: Structural and functional alterations and their contribution to leukemia development. | Al-Nakhle HH et al. | β | 2024 | β |
| Elucidating the Role of OXPHOS Variants in Asthenozoospermia: Insights from Whole Genome Sequencing and an In Silico Analysis. | Kyrgiafini MA 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 |
| Enhancing portability of trans-ancestral polygenic risk scores through tissue-specific functional genomic data integration. | Crone B et al. | β | 2024 | β |
| Epigenetic clocks and programmatic aging. | Gems D et al. | β | 2024 | β |
| Evaluating the regulatory function of non-coding autism-associated single nucleotide polymorphisms on gene expression in human brain tissue. | Pugsley K et al. | β | 2024 | β |
| Exploring noncoding variants in genetic diseases: from detection to functional insights. | Wu K 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 |
| FORGEdb: a tool for identifying candidate functional variants and uncovering target genes and mechanisms for complex diseases. | Breeze CE et al. | β | 2024 | β |
| FTO is a major genetic link between breast cancer, obesity, and diabetes. | Gholami M | β | 2024 | β |
| Functional Annotation and Gene Set Analysis of Gastric Cancer Risk Loci in a Korean Population. | Pyun H et al. | β | 2024 | β |
| Functional Characterization of Splice Variants in the Diagnosis of Albinism. | Diallo M et al. | β | 2024 | β |
| Functional Genomics and Insights into the Pathogenesis and Treatment of Psoriasis. | Shellard EM et al. | β | 2024 | β |
| Functional Genomics in Psoriasis. | Rossi S 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 |
| Gene regulatory network inference from CRISPR perturbations in primary CD4<sup>+</sup> TΒ cells elucidates the genomic basis of immune disease. | Weinstock JS et al. | β | 2024 | β |
| Genetic and environmental factors driving congenital solitary functioning kidney. | Groen In 't Woud S et al. | β | 2024 | β |
| Genetic architectures of the human hippocampus and those involved in neuropsychiatric traits. | Ning C 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 basis of right and left ventricular heart shape. | Burns R et al. | β | 2024 | β |
| Genetic biomarkers of methotrexate response and safety in Crohn's disease: Data from the Spanish ENEIDA registry. | Salazar J et al. | β | 2024 | β |
| Genetic determinants of plasma protein levels in the Estonian population. | Kalnapenkis A et al. | β | 2024 | β |
| Genetic influences on circulating retinol and its relationship to human health. | Reay WR et al. | β | 2024 | β |
| Genetic Insights into Azoospermia and Severe Oligozoospermia: Discovering Seven SNPs through GWAS and In Silico Analysis. | Chatziparasidou A et al. | β | 2024 | β |
| Genetic overlap between Alzheimer's disease and immune-mediated diseases: an atlas of shared genetic determinants and biological convergence. | Enduru N et al. | β | 2024 | β |
| Genetic overlap between schizophrenia and cognitive performance. | Zhang J 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 in NOTCH1 is associated with overweight and obesity in Brazilian elderly. | Silva Barcelos EC et al. | β | 2024 | β |
| Genetic Variations in TrkB.T1 Isoform and Their Association With Somatic and Psychological Symptoms in Individuals With IBS. | Hong H et al. | β | 2024 | β |
| Genome-wide analyses in Lyme borreliosis: identification of a genetic variant associated with disease susceptibility and its immunological implications. | Vrijmoeth HD et al. | β | 2024 | β |
| Genome-wide analysis reveals extensive genetic overlap between childhood phenotypes and later-life type 2 diabetes. | Qiu S et al. | β | 2024 | β |
| Genome-wide association analyses identify 95 risk loci and provide insights into the neurobiology of post-traumatic stress disorder. | Nievergelt CM et al. | β | 2024 | β |
| Genome-wide association analysis of hypertension and epigenetic aging reveals shared genetic architecture and identifies novel risk loci. | Li X et al. | β | 2024 | β |
| Genome-wide exploration of genetic interactions for bladder cancer risk. | Yu EY et al. | β | 2024 | β |
| Genome-Wide Genetic Analysis of Dropout in a Controlled Exercise Intervention in Sedentary Adults With Overweight or Obesity and Cardiometabolic Disease. | Jiang R et al. | β | 2024 | β |
| Genome-Wide Interaction Analyses of Serum Calcium on Ventricular Repolarization Time in 125β393 Participants. | Young WJ et al. | β | 2024 | β |
| Genomic Landscape of Chromosome X Factor VIII: From Hemophilia A in Males to Risk Variants in Females. | Morris O et al. | β | 2024 | β |
| GWAS breakthroughs: mapping the journey from one locus to 393 significant coronary artery disease associations. | Aherrahrou R et al. | β | 2024 | β |
| HLA Genetics for the Human Diseases. | Shiina T et al. | β | 2024 | β |
| Identification and verification of disulfidptosis-related genes in sepsis-induced acute lung injury. | Zhang A et al. | β | 2024 | β |
| Identification of an novel genetic variant associated with osteoporosis: insights from the Taiwan Biobank Study. | Liaw YC 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 |
| Identification of novel genomic loci for anxiety symptoms and extensive genetic overlap with psychiatric disorders. | Tesfaye M et al. | β | 2024 | β |
| Identification of potential common genetic modifiers ofΒ neurofibromas: a genome-wide association study inΒ 1333 patients with neurofibromatosis type 1. | Pacot L et al. | β | 2024 | β |
| Identification of Sweetness Preference-Related Single-Nucleotide Polymorphisms for Polygenic Risk Scores Associated with Obesity. | Bae JH et al. | β | 2024 | β |
| Identifying Common Genetic Etiologies Between Inflammatory Bowel Disease and Related Immune-Mediated Diseases. | Liu X et al. | β | 2024 | β |
| Identifying risk loci for obsessive-compulsive disorder and shared genetic component with schizophrenia: A large-scale multi-trait association analysis with summary statistics. | Dai J et al. | β | 2024 | β |
| Implication of vasopressin receptor genes (AVPR1A and AVPR1B) in the susceptibility to polycystic ovary syndrome. | Goparaju P et al. | β | 2024 | β |
| Influence of Clinical and Genetic Factors on Propofol Dose Requirements: A Genome-wide Association Study. | AhlstrΓΆm S et al. | β | 2024 | β |
| Integrated analysis identifies GABRB3 as a biomarker in prostate cancer. | Chen JY et al. | β | 2024 | β |
| Integrated Analysis of the Association Between Variants at <i>PAX7</i> and NSCL/P in the Han Population. | Yang CW et al. | β | 2024 | β |
| Integrating functional scoring and regulatory data to predict the effect of non-coding SNPs in a complex neurological disease. | FelΓcio D et al. | β | 2024 | β |
| Investigating the shared genetic architecture between depression and subcortical volumes. | Liu 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 |
| Joint genotype and ancestry analysis identify novel loci associated with atopic dermatitis in African American population. | Gautam Y et al. | β | 2024 | β |
| Lack of Association between <i>LOXL1</i> Variants and Pigment Dispersion Syndrome/Pigmentary Glaucoma: A Meta-Analysis. | Rong S et al. | β | 2024 | β |
| Liver eQTL meta-analysis illuminates potential molecular mechanisms of cardiometabolic traits. | Broadaway KA et al. | β | 2024 | β |
| Longitudinal Analysis of Sweet Taste Preference Through Genetic and Phenotypic Data Integration. | Bae JH 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 |
| Lung Cancer in Ever- and Never-Smokers: Findings from Multi-Population GWAS Studies. | Li Y et al. | β | 2024 | β |
| Meta-analysis of ACE inhibitor-induced angioedema identifies novel risk locus. | Mathey CM et al. | β | 2024 | β |
| Meta-analysis of genome-wide association studies for cancer therapy-related cardiovascular dysfunction and functional mapping highlight an intergenic region close to TP63. | MartΓnez-Campelo L et al. | β | 2024 | β |
| Multiomic analysis of uterine leiomyomas in self-described Black and White women: molecular insights into health disparities. | Bateman NW et al. | β | 2024 | β |
| NCAD v1.0: a database for non-coding variant annotation and interpretation. | Feng X et al. | β | 2024 | β |
| Novel breast cancer susceptibility loci under linkage peaks identified in African ancestry consortia. | Ochs-Balcom HM et al. | β | 2024 | β |
| Novel genetic association between obesity, colorectal cancer, and inflammatory bowel disease. | Gholami M | β | 2024 | β |
| Novel genetic association of the Furin gene polymorphism rs1981458 with COVID-19 severity among Indian populations. | Pandey RK et al. | β | 2024 | β |
| Pathway enrichment in genome-wide analysis of longitudinal Alzheimer's disease biomarker endophenotypes. | Rosewood TJ et al. | β | 2024 | β |
| Pharmacogenetics of Neoadjuvant MAP Chemotherapy in Localized Osteosarcoma: A Study Based on Data from the GEIS-33 Protocol. | Salazar J et al. | β | 2024 | β |
| Pleiotropy with sex-specific traits reveals genetic aspects of sex differences in Parkinson's disease. | Nordengen K 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 |
| Potentially functional variants of CHMP4A and PANX1 in the pyroptosis-related pathway predict survival of patients with non-oropharyngeal head and neck squamous cell carcinoma. | Tang X et al. | β | 2024 | β |
| Potential new cancer biomarkers revealed by quantum chemistry associated with bioinformatics in the study of selectin polymorphisms. | Rabi LT et al. | β | 2024 | β |
| Proteogenomic network analysis reveals dysregulated mechanisms and potential mediators in Parkinson's disease. | Doostparast Torshizi A et al. | β | 2024 | β |
| Regulome-wide association study identifies genetically driven accessible regions associated with pancreatic cancer risk. | Liu S et al. | β | 2024 | β |
| SetQuence & SetOmic: Deep set transformers for whole genome and exome tumour analysis. | Jurenaite N et al. | β | 2024 | β |
| Sex-biased genetic regulation of inflammatory proteins in the Dutch population. | Boahen CK et al. | β | 2024 | β |
| Shared and Unique Genetic Links between Neuroticism and Gastrointestinal Tract Diseases. | Tian Y et al. | β | 2024 | β |
| Shared Genetic Architecture Among Gastrointestinal Diseases, Schizophrenia, and Brain Subcortical Volumes. | Xie Y et al. | β | 2024 | β |
| Shared genetic architecture of cortical thickness alterations in major depressive disorder and schizophrenia. | Wang H et al. | β | 2024 | β |
| Shared Genetic Architectures between Coronary Artery Disease and Type 2 Diabetes Mellitus in East Asian and European Populations. | Li X et al. | β | 2024 | β |
| Shared molecular mechanisms and transdiagnostic potential of neurodevelopmental disorders and immune disorders. | Xiu Z et al. | β | 2024 | β |
| Single-cell multi-ome regression models identify functional and disease-associated enhancers and enable chromatin potential analysis. | Mitra S 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 |
| Targeting ATP2B1 impairs PI3K/Akt/FOXO signaling and reduces SARS-COV-2 infection and replication. | de Antonellis P et al. | β | 2024 | β |
| The construction of a novel prognostic prediction model for glioma based on GWAS-identified prognostic-related risk loci. | Wei J et al. | β | 2024 | β |
| The genetic architecture of the human hypothalamus and its involvement in neuropsychiatric behaviours and disorders. | Chen SD et al. | β | 2024 | β |
| The genetic landscape of basal ganglia and implications for common brain disorders. | Bahrami S 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 genome-wide association study of serum IgE levels demonstrated a shared genetic background in allergic diseases. | Lu HF et al. | β | 2024 | β |
| The glucocorticoid receptor gene (NR3C1) is linked to and associated with polycystic ovarian syndrome in Italian families. | Syed S et al. | β | 2024 | β |
| The melanocortin receptor genes are linked to and associated with the risk of polycystic ovary syndrome in Italian families. | Wu R et al. | β | 2024 | β |
| The melatonin receptor genes are linked and associated with the risk of polycystic ovary syndrome. | Postolache TT 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 |
| 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 |
| Unravelling the Complexity of the +33 C>G [HBB:c.-18C>G] Variant in Beta Thalassemia. | Stephanou C et al. | β | 2024 | β |
| Unveiling the shared genetic architecture between testosterone and polycystic ovary syndrome. | Sun S et al. | β | 2024 | β |
| VEGFA gene variants are associated with breast cancer progression. | Furriol J et al. | β | 2024 | β |
| Whole genome sequencing identifies associations for nonsyndromic sagittal craniosynostosis with the intergenic region of BMP2 and noncoding RNA gene LINC01428. | Musolf AM et al. | β | 2024 | β |
| Whole-genome sequencing identifies variants in ANK1, LRRN1, HAS1, and other genes and regulatory regions for stroke in type 1 diabetes. | Antikainen AA et al. | β | 2024 | β |
| Whole genome sequencing study of identical twins discordant for psychosis. | Ormond C et al. | β | 2024 | β |
| X-chromosome and kidney function: evidence from a multi-trait genetic analysis of 908,697 individuals reveals sex-specific and sex-differential findings in genes regulated by androgen response elements. | Scholz M et al. | β | 2024 | β |
| ΞicroRNA (miRNA) Variants in Male Infertility: Insights from Whole-Genome Sequencing. | Kyrgiafini MA et al. | β | 2024 | β |
| A Clinician's Guide to Bioinformatics for Next-Generation Sequencing. | Larson NB et al. | β | 2023 | β |
| A Comprehensive Investigation of Genomic Variants in Prostate Cancer Reveals 30 Putative Regulatory Variants. | Labani M et al. | β | 2023 | β |
| Admixture mapping identifies novel Alzheimer's disease risk regions in African Americans. | Rajabli F et al. | β | 2023 | β |
| A Functional Polymorphism Downstream of Vitamin A Regulator Gene <i>CYP26B1</i> Is Associated with Hand Osteoarthritis. | Khosasih V et al. | β | 2023 | β |
| A human leukocyte antigen imputation study uncovers possible genetic interplay between gut inflammatory processes and autism spectrum disorders. | Lombardi L et al. | β | 2023 | β |
| Analysis of ancestry-specific polygenic risk score and diet composition in type 2 diabetes. | Hardy DS et al. | β | 2023 | β |
| An atlas of genetic determinants of forearm fracture. | Nethander M et al. | β | 2023 | β |
| An autoimmune pleiotropic SNP modulates IRF5 alternative promoter usage through ZBTB3-mediated chromatin looping. | Wang Z et al. | β | 2023 | β |
| Annotating and prioritizing human non-coding variants with RegulomeDB v.2. | Dong S et al. | β | 2023 | β |
| A Non-Coding Variant in <i>SLC15A4</i> Modulates Enhancer Activity and Lysosomal Deacidification Linked to Lupus Susceptibility. | Singh MK et al. | β | 2023 | β |
| A pleiotropic variant in DNAJB4 is associated with multiple myeloma risk. | Dicanio M 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 |
| Aryl Hydrocarbon Receptor Agonism Antagonizes the Hypoxia-driven Inflammation in Cystic Fibrosis. | Pariano M et al. | β | 2023 | β |
| A shared genetic architecture between adhesive capsulitis and Dupuytren disease. | Kim SK et al. | β | 2023 | β |
| Assessment of clinically actionable pharmacogenetic markers to stratify anti-seizure medications. | Guin D et al. | β | 2023 | β |
| Association between 17q21 variants and asthma predisposition in Pashtun population from Pakistan. | Afzal S 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 HMGCR, CRP, and CETP gene polymorphisms and metabolic/inflammatory serum profile in healthy adolescents. | Perrone B et al. | β | 2023 | β |
| Association of genetic variants of CircCHST15 with oral squamous cell carcinoma in the Chinese Han population. | Wang T et al. | β | 2023 | β |
| Association of HOTAIR rs2366152 and rs1899663 polymorphisms with colorectal cancer susceptibility in Iranian population: A case-control study. | Eivazi N et al. | β | 2023 | β |
| Association of Intelectin 1 Gene rs2274907 Aβ>βT Polymorphism with Obesity, Type 2 Diabetes, Serum Intelectin-1 Levels and Lipid Profiles in Turkish Adults. | Guclu-Geyik F et al. | β | 2023 | β |
| Association of PDGFRA polymorphisms with the risk of corneal astigmatism in a Japanese population. | Fukasaku H et al. | β | 2023 | β |
| Association of the <i>Interleukin 1B</i>-31*C Proinflammatory Allele with the Severity of COVID-19 Patients: A Preliminary Report. | GalΓ‘n-Huerta KA et al. | β | 2023 | β |
| [A study of genetic variants in patients with ischemic stroke in human rat gene orthologues]. | Koltsova EA et al. | β | 2023 | β |
| Bioinformatic Evaluation of Features on Cis-regulatory Elements at 6q25.1. | Sreekar N et al. | β | 2023 | β |
| Cancer carrier screening in the general population using whole-genome sequencing. | Chang YS et al. | β | 2023 | β |
| Causal relationships between gut microbiota and programmed cell death protein 1/programmed cell death-ligand 1: A bidirectional Mendelian randomization study. | Huang YF et al. | β | 2023 | β |
| Challenges in screening for <i>de novo</i> noncoding variants contributing to genetically complex phenotypes. | Castro CP et al. | β | 2023 | β |
| Characterizing the Shared Genetic Underpinnings of Schizophrenia and Cardiovascular Disease Risk Factors. | RΓΈdevand L 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 |
| Comprehensive In Silico Characterization of the Coding and Non-Coding SNPs in Human <i>Dectin-1</i> Gene with the Potential of High-Risk Pathogenicity Associated with Fungal Infections. | Al-Nakhle HH et al. | β | 2023 | β |
| CVD-associated SNPs with regulatory potential reveal novel non-coding disease genes. | Zhu C et al. | β | 2023 | β |
| Decoding the genetic and epigenetic basis of asthma. | Stikker BS et al. | β | 2023 | β |
| Decoding the genetic relationship between Alzheimer's disease and type 2 diabetes: potential risk variants and future direction for North Africa. | Boukhalfa W et al. | β | 2023 | β |
| Dissecting the cross-trait effects of the FOXP2 GWAS hit on clinical and brain phenotypes in adults with ADHD. | Meyer GP et al. | β | 2023 | β |
| Epigenetic and integrative cross-omics analyses of cerebral white matter hyperintensities on MRI. | Yang Y et al. | β | 2023 | β |
| Evidence of a causal effect of genetic tendency to gain muscle mass on uterine leiomyomata. | Sliz E et al. | β | 2023 | β |
| Exome-wide analysis reveals role of <i>LRP1</i> and additional novel loci in cognition. | Chakraborty S et al. | β | 2023 | β |
| Functional characterization of human genomic variation linked to polygenic diseases. | Fabo T et al. | β | 2023 | β |
| Functional Enrichment Analysis Identifying Regulatory Information Associated with Human Fracture. | Meng XH et al. | β | 2023 | β |
| Functional variant rs10175368 which affects the expression of CYP1B1 plays a protective role against breast cancer in a Chinese Han population. | Liu J et al. | β | 2023 | β |
| Gain-of-Function Variomics and Multi-omics Network Biology for Precision Medicine. | Li MM et al. | β | 2023 | β |
| Gene-by-Sex Interactions: Genome-Wide Association Study Reveals Five SNPs Associated with Obesity and Overweight in a Male Population. | Kyrgiafini MA et al. | β | 2023 | β |
| Gene-environment interaction explains a part of missing heritability in human body mass index. | Jung HU et al. | β | 2023 | β |
| Gene polymorphism in IL17A and gene-gene interaction in the IL23R/IL17A axis are associated with susceptibility to coronary artery disease. | Zhang H et al. | β | 2023 | β |
| Gene-Smoking Interaction Analysis for the Identification of Novel Asthma-Associated Genetic Factors. | Cha J et al. | β | 2023 | β |
| Genetic architecture of spatial electrical biomarkers for cardiac arrhythmia and relationship with cardiovascular disease. | Young WJ et al. | β | 2023 | β |
| Genetic Determinants of Atherogenic Indexes. | Texis T et al. | β | 2023 | β |
| Genetic factors associated with serum amylase in a Japanese population: combined analysis of copy-number and single-nucleotide variants. | Nayema Z 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 Landscape of Major Depressive Disorder: Assessment of Potential Diagnostic and Antidepressant Response Markers. | Singh P et al. | β | 2023 | β |
| Genetic polymorphism (rs6587666) in <i>FLG</i> protects from eczema in admixed Brazilian children population with high African ancestry. | Rios R et al. | β | 2023 | β |
| Genetics of vegetarianism: A genome-wide association study. | Yaseen NR et al. | β | 2023 | β |
| Genetic Variants Associated with Longitudinal Cognitive Performance in Older Breast Cancer Patients and Controls. | Nudelman K 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 variation in NFE2L2 is associated with outcome following aneurysmal subarachnoid haemorrhage. | Gaastra B et al. | β | 2023 | β |
| Genetic variation in the human leukocyte antigen region confers susceptibility to Clostridioides difficile infection. | Ferar K et al. | β | 2023 | β |
| Genetic Variations in the Purinergic P2X7 Receptor Are Associated with the Immune Response to Ocular Toxoplasmosis in Colombia. | Naranjo-Galvis CA 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 admixture and association analysis identifies African ancestry-specific risk loci of eosinophilic esophagitis in African Americans. | Gautam Y et al. | β | 2023 | β |
| Genome-wide analyses of early-onset acute myocardial infarction identify 29 novel loci by whole genome sequencing. | Jeon Y et al. | β | 2023 | β |
| Genome-wide analysis of anorexia nervosa and major psychiatric disorders and related traits reveals genetic overlap and identifies novel risk loci for anorexia nervosa. | Bang L et al. | β | 2023 | β |
| Genome-Wide Analysis of Left Ventricular Maximum Wall Thickness in the UK Biobank Cohort Reveals a Shared Genetic Background With Hypertrophic Cardiomyopathy. | Aung N et al. | β | 2023 | β |
| Genome-Wide Association Analysis across Endophenotypes in Alzheimer's Disease: Main Effects and Disease Stage-Specific Interactions. | Rosewood TJ et al. | β | 2023 | β |
| Genome-wide Association Analysis of Schizophrenia and Vitamin D Levels Shows Shared Genetic Architecture and Identifies Novel Risk Loci. | Jaholkowski P et al. | β | 2023 | β |
| Genome-Wide Association and Inheritance-Based Analyses Implicate Unconventional Myosin Genes in Hypoplastic Left Heart Syndrome. | Theis JL et al. | β | 2023 | β |
| Genome-Wide Associations and Confirmatory Meta-Analyses in Diabetic Retinopathy. | Yu X et al. | β | 2023 | β |
| Genome-Wide Association Studies of Diarrhea Frequency and Duration in the First Year of Life in Bangladeshi Infants. | Munday RM et al. | β | 2023 | β |
| Genome-wide association study in 404,302 individuals identifies 7 significant loci for reaction time variability. | Wootton O et al. | β | 2023 | β |
| Genome-wide association study meta-analysis supports association between MUC1 and ectopic pregnancy. | Pujol Gualdo N et al. | β | 2023 | β |
| Genome-wide association study of cerebellar white matter microstructure and genetic overlap with common brain disorders. | Wu BS et al. | β | 2023 | β |
| Genome-wide association study of hippocampal blood-oxygen-level-dependent-cerebral blood flow correlation in Chinese Han population. | Xue H et al. | β | 2023 | β |
| Genome-wide association study of lung adenocarcinoma in East Asia and comparison with a European population. | Shi J et al. | β | 2023 | β |
| Genome-Wide Association Study of Pericardial Fat Area in 28β161 UK Biobank Participants. | Salih A et al. | β | 2023 | β |
| Genome-wide association study on coordination and agility in 461 Chinese Han males. | Wang Y et al. | β | 2023 | β |
| Genome-wide meta-analysis identifies new candidate genes for sickle cell disease nephropathy. | Garrett ME 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 |
| GWAS meta-analyses clarify the genetics of cervical phenotypes and inform risk stratification for cervical cancer. | Koel M et al. | β | 2023 | β |
| Haplotypic variants of COVID-19 related genes are associated with blood pressure and metabolites levels. | Gholami M et al. | β | 2023 | β |
| Hidden modes of DNA binding by human nuclear receptors. | Bhimsaria D et al. | β | 2023 | β |
| Identification and functional validation of an enhancer variant in the 9p21.3 locus associated with glaucoma risk and elevated expression of p16<sup>INK4a</sup>. | Zhu Y 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 Rare Genetic Variants in Familial Spontaneous Coronary Artery Dissection and Evidence for Shared Biological Pathways. | Turley TN et al. | β | 2023 | β |
| Identification of region-specific splicing QTLs in human hippocampal tissue and its distinctive role in brain disorders. | Li X et al. | β | 2023 | β |
| Identifying genetic variants regulating MGMT gene expression - A study in monozygotic Danish twins. | Mohammadnejad A et al. | β | 2023 | β |
| Identifying polymorphic cis-regulatory variants as risk markers for lung carcinogenesis and chemotherapy responses in tobacco smokers from eastern India. | Sengupta D et al. | β | 2023 | β |
| Impact of <i>LINC00673</i> genetic variants on uterine cervical cancer clinicopathologic characteristics. | Sun YH et al. | β | 2023 | β |
| In Silico Evaluation of Coding and Non-Coding nsSNPs in the Thrombopoietin Receptor (<i>MPL</i>) Proto-Oncogene: Assessing Their Influence on Protein Stability, Structure, and Function. | Al-Nakhle HH et al. | β | 2023 | β |
| In silico prioritisation of microRNA-associated common variants in multiple sclerosis. | Fashina IA et al. | β | 2023 | β |
| Integrative Functional Genomics Identifies Systemic Lupus Erythematosus Causal Genetic Variant in the IRF5 Risk Locus. | Hou G 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 |
| Interaction analysis of ancestry-enriched variants with APOE-Ι4 on MCI in the Study of Latinos-Investigation of Neurocognitive Aging. | Granot-Hershkovitz E et al. | β | 2023 | β |
| Investigation of UTR Variants by Computational Approaches Reveal Their Functional Significance in <i>PRKCI</i> Gene Regulation. | Shah H et al. | β | 2023 | β |
| Iron metabolism in autism spectrum disorder; inference through single nucleotide polymorphisms in key iron metabolism genes. | Rabaya S et al. | β | 2023 | β |
| Linkage and association of variants in the dopamine receptor 2 gene (DRD2) with polycystic ovary syndrome. | Amin M et al. | β | 2023 | β |
| Long-range regulatory effects of Neandertal DNA in modern humans. | Yermakovich D et al. | β | 2023 | β |
| Machine learning dissection of human accelerated regions in primate neurodevelopment. | Whalen S et al. | β | 2023 | β |
| Machine learning reveals genetic modifiers of the immune microenvironment of cancer. | Riley-Gillis B et al. | β | 2023 | β |
| Meta-analysis of age-related cognitive decline reveals a novel locus for the attention domain and implicates a COVID-19-related gene for global cognitive function. | Acharya V et al. | β | 2023 | β |
| Molecular Landscape of Tourette's Disorder. | Widomska J et al. | β | 2023 | β |
| Multi-ancestry genome- and phenome-wide association studies of diverticular disease in electronic health records with natural language processing enriched phenotyping algorithm. | Joo YY et al. | β | 2023 | β |
| Multifactor dimensionality reduction method identifies novel SNP interactions in the WNT protein interaction networks that are associated with recurrence risk in colorectal cancer. | Curtis AA et al. | β | 2023 | β |
| Multiscale genetic architecture of donor-recipient differences reveals intronic LIMS1 mismatches associated with kidney transplant survival. | Sun Z et al. | β | 2023 | β |
| Novel corticotropin-releasing hormone receptor genes (CRHR1 and CRHR2) linkage to and association with polycystic ovary syndrome. | Amin M et al. | β | 2023 | β |
| Novel Risk Variants in the Oxytocin Receptor Gene (<i>OXTR</i>) Possibly Linked to and Associated with Familial Type 2 Diabetes. | Amin M 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 |
| Plasma biomarkers and genetics in the diagnosis and prediction of Alzheimer's disease. | Stevenson-Hoare J et al. | β | 2023 | β |
| Polygenic influences on the behavioral effects of alcohol withdrawal in a mixed-ancestry population from the collaborative study on the genetics of alcoholism (COGA). | Benca-Bachman CE et al. | β | 2023 | β |
| Polymorphisms in TRIB2 and CAPRIN2 Genes Contribute to the Susceptibility to High Myopia-Induced Cataract in Han Chinese Population. | Ma B et al. | β | 2023 | β |
| Potentially functional genetic variants in RPS6KA4 and MAP2K5 in the MAPK signaling pathway predict HBV-related hepatocellular carcinoma survival. | Qiu M 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 |
| Race/ethnicity-stratified fine-mapping of the MHC locus reveals genetic variants associated with late-onset asthma. | Lee EY et al. | β | 2023 | β |
| Refining patterns of MEF2C effects in white matter microstructure and psychiatric features. | de Araujo Tavares ME 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 |
| Sex-Dimorphic Analyses Identify Novel and Sex-Specific Genetic Associations in Inflammatory Bowel Disease. | Khrom M et al. | β | 2023 | β |
| Sex-Specific Associations of <i>MDM2</i> and <i>MDM4</i> Variants with Risk of Multiple Primary Melanomas and Melanoma Survival in Non-Hispanic Whites. | Ward SV et al. | β | 2023 | β |
| Shared genetic architecture between attention-deficit/hyperactivity disorder and lifespan. | Vilar-RibΓ³ L et al. | β | 2023 | β |
| Shared genetic architecture between irritable bowel syndrome and psychiatric disorders reveals molecular pathways of the gut-brain axis. | Tesfaye M et al. | β | 2023 | β |
| Shared Genetic Architecture between Parkinson's Disease and Brain Structural Phenotypes. | Ma DR et al. | β | 2023 | β |
| Shared genetic loci and causal relations between schizophrenia and obsessive-compulsive disorder. | Chen Y et al. | β | 2023 | β |
| Shared genetic loci between Alzheimer's disease and multiple sclerosis: Crossroads between neurodegeneration and immune system. | Fominykh V et al. | β | 2023 | β |
| Shared Genetics and Comorbid Genes of Amyotrophic Lateral Sclerosis and Parkinson's Disease. | Tian Y 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 |
| Significance of an altered lncRNA landscape in schizophrenia and cognition: clues from a case-control association study. | Mukhopadhyay A et al. | β | 2023 | β |
| Strategies for activity analysis of single nucleotide polymorphisms associated with human diseases. | Ren N et al. | β | 2023 | β |
| SysBiolPGWAS: simplifying post-GWAS analysis through the use of computational technologies and integration of diverse omics datasets. | Falola O et al. | β | 2023 | β |
| The contributions of mitochondrial and nuclear mitochondrial genetic variation to neuroticism. | Xia C et al. | β | 2023 | β |
| The genetic architecture of fornix white matter microstructure and their involvement in neuropsychiatric disorders. | Ou YN et al. | β | 2023 | β |
| The genetic architecture of human amygdala volumes and their overlap with common brain disorders. | Ou YN et al. | β | 2023 | β |
| The genetic architecture of the corpus callosum and its genetic overlap with common neuropsychiatric diseases. | Chen SJ et al. | β | 2023 | β |
| The Genetic Architectures of Functional and Structural Connectivity Properties within Cerebral Resting-State Networks. | Tissink E et al. | β | 2023 | β |
| The identification of distinct protective and susceptibility mechanisms for hip osteoarthritis: findings from a genome-wide association study meta-analysis of minimum joint space width and Mendelian randomisation cluster analyses. | Faber BG et al. | β | 2023 | β |
| The prolactin receptor gene (PRLR) is linked and associated with the risk of polycystic ovarian syndrome. | Amin M 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 |
| Understanding Insulin in the Age of Precision Medicine and Big Data: Under-Explored Nature of Genomics. | Cook TW et al. | β | 2023 | β |
| Unveiling the Genetic Complexity of Teratozoospermia: Integrated Genomic Analysis Reveals Novel Insights into lncRNAs' Role in Male Infertility. | Kyrgiafini MA et al. | β | 2023 | β |
| Using human genetics to improve safety assessment of therapeutics. | Carss KJ et al. | β | 2023 | β |
| Variant Characterization of a Representative Large Pedigree Suggests "Variant Risk Clusters" Convey Varying Predisposition of Risk to Lynch Syndrome. | Barbirou M 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 |
| Xanthine oxidoreductase gene polymorphisms are associated with high risk of sepsis and organ failure. | Gao L et al. | β | 2023 | β |
| Adaptive eQTLs reveal the evolutionary impacts of pleiotropy and tissue-specificity while contributing to health and disease. | Quiver MH et al. | β | 2022 | β |
| Admixture Mapping of Sepsis in European Individuals With African Ancestries. | Hernandez-Beeftink T et al. | β | 2022 | β |
| A general framework for predicting the transcriptomic consequences of non-coding variation and small molecules. | Abdalla M et al. | β | 2022 | β |
| A Genome-Wide Association Study into the Aetiology of Congenital Solitary Functioning Kidney. | Groen In 't Woud S et al. | β | 2022 | β |
| A Genome-Wide Association Study Reveals Two Genetic Markers for Chondromalacia. | Kim SK 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 |
| A leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation. | Llimos G et al. | β | 2022 | β |
| A multi-layer functional genomic analysis to understand noncoding genetic variation in lipids. | Ramdas S 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 |
| An Amish founder population reveals rare-population genetic determinants of the human lipidome. | Montasser ME et al. | β | 2022 | β |
| ANANASTRA: annotation and enrichment analysis of allele-specific transcription factor binding at SNPs. | Boytsov A et al. | β | 2022 | β |
| Ancestral diversity improves discovery and fine-mapping of genetic loci for anthropometric traits-The Hispanic/Latino Anthropometry Consortium. | FernΓ‘ndez-Rhodes L et al. | β | 2022 | β |
| Ancestral risk modification for multiple sclerosis susceptibility detected across the Major Histocompatibility Complex in a multi-ethnic population. | Beecham AH et al. | β | 2022 | β |
| Answer ALS, a large-scale resource for sporadic and familial ALS combining clinical and multi-omics data from induced pluripotent cell lines. | Baxi EG et al. | β | 2022 | β |
| Are Alzheimer's and coronary artery diseases genetically related to longevity? | Bellou E et al. | β | 2022 | β |
| Association between Ancestry-Specific 6q25 Variants and Breast Cancer Subtypes in Peruvian Women. | Zavala VA et al. | β | 2022 | β |
| Association between single-nucleotide polymorphism rs145497186 related to NDUFV2 and lumbar disc degeneration: a pilot case-control study. | Wang Z 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 |
| Autoimmune Disease Associated <i>CLEC16A</i> Variants Convey Risk of Parkinson's Disease in Han Chinese. | Fan HH et al. | β | 2022 | β |
| Autosomal recessive LRP1-related syndrome featuring cardiopulmonary dysfunction, bone dysmorphology, and corneal clouding. | Mark PR 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 |
| Boosting Schizophrenia Genetics by Utilizing Genetic Overlap With Brain Morphology. | van der Meer D et al. | β | 2022 | β |
| Causal Inference of Genetic Variants and Genes in Amyotrophic Lateral Sclerosis. | Pan S et al. | β | 2022 | β |
| Characteristics of white blood cell count in acute lymphoblastic leukemia: A COST LEGEND phenotype-genotype study. | Helenius M et al. | β | 2022 | β |
| Characterizing the polygenic overlaps of bipolar disorder subtypes with schizophrenia and major depressive disorder. | Li Z et al. | β | 2022 | β |
| Chromosomal Region 11p14.1 is Associated with Pharmacokinetics and Pharmacodynamics of Bisoprolol. | Fontana V et al. | β | 2022 | β |
| Cis-regulatory mutations associate with transcriptional and post-transcriptional deregulation of gene regulatory programs in cancers. | Castro-Mondragon JA et al. | β | 2022 | β |
| Common variants in GNL3 gene contributed the susceptibility of hand osteoarthritis in Han Chinese population. | Wang X et al. | β | 2022 | β |
| Common Variation in the PIN1 Locus Increases the Genetic Risk to Suffer from Sertoli Cell-Only Syndrome. | CervΓ‘n-MartΓn M et al. | β | 2022 | β |
| Comorbidity of Novel <i>CRHR2</i> Gene Variants in Type 2 Diabetes and Depression. | Amin M et al. | β | 2022 | β |
| Comprehensive analysis of omics data identifies relevant gene networks for Attention-Deficit/Hyperactivity Disorder (ADHD). | Cabana-DomΓnguez J et al. | β | 2022 | β |
| Convergent lines of evidence supporting involvement of NFKB1 in schizophrenia. | Long J et al. | β | 2022 | β |
| dbBIP: a comprehensive bipolar disorder database for genetic research. | Li X 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 |
| Defining novel causal SNPs and linked phenotypes at melanoma-associated loci. | Castaneda-Garcia C et al. | β | 2022 | β |
| Demystifying non-coding GWAS variants: an overview of computational tools and methods. | Schipper M et al. | β | 2022 | β |
| Development of Type 1 Diabetes may occur through a Type 2 Diabetes mechanism. | Josefsen K et al. | β | 2022 | β |
| Distributed genetic architecture across the hippocampal formation implies common neuropathology across brain disorders. | Bahrami S et al. | β | 2022 | β |
| Diverse ancestry whole-genome sequencing association study identifies <i>TBX5</i> and <i>PTK7</i> as susceptibility genes for posterior urethral valves. | Chan MMY et al. | β | 2022 | β |
| DNA replication initiation shapes the mutational landscape and expression of the human genome. | Murat P et al. | β | 2022 | β |
| Effects of <i>CYP24A1</i> polymorphisms on premature ejaculation: a case-control study. | Wang F et al. | β | 2022 | β |
| Examining SNP-SNP interactions and risk of clinical outcomes in colorectal cancer using multifactor dimensionality reduction based methods. | Curtis A et al. | β | 2022 | β |
| Exploration of Tools for the Interpretation of Human Non-Coding Variants. | Tabarini N 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 |
| Familial Linkage and Association of the <i>NR3C1</i> Gene with Type 2 Diabetes and Depression Comorbidity. | Amin M et al. | β | 2022 | β |
| Fetal hemoglobin-boosting haplotypes of BCL11A gene and HBS1L-MYB intergenic region in the prediction of clinical and hematological outcomes in a cohort of children with sickle cell anemia. | Sales RR et al. | β | 2022 | β |
| Functional studies of lung cancer GWAS beyond association. | Long E et al. | β | 2022 | β |
| Functional variant rs2270363 on 16p13.3 confers schizophrenia risk by regulating NMRAL1. | Wang J et al. | β | 2022 | β |
| Generalized multi-SNP mediation intersection-union test. | Zhong W et al. | β | 2022 | β |
| Genetic adaptations to SIV across chimpanzee populations. | Pawar H et al. | β | 2022 | β |
| Genetic analyses of the electrocardiographic QT interval and its components identify additional loci and pathways. | Young WJ et al. | β | 2022 | β |
| Genetic Analysis in African American Children Supports Ancestry-Specific Neuroblastoma Susceptibility. | Testori A et al. | β | 2022 | β |
| Genetic analysis of dietary intake identifies new loci and functional links with metabolic traits. | Merino J et al. | β | 2022 | β |
| Genetic associations with carotid intima-media thickness link to atherosclerosis with sex-specific effects in sub-Saharan Africans. | Boua PR 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 Relationships between Attention-Deficit/Hyperactivity Disorder, Autism Spectrum Disorder, and Intelligence. | Rao S et al. | β | 2022 | β |
| Genetics of osteopontin in patients with chronic kidney disease: The German Chronic Kidney Disease study. | Cheng Y et al. | β | 2022 | β |
| Genetic variations in evolutionary accelerated regions disrupt cognition in schizophrenia. | Bhattacharyya U et al. | β | 2022 | β |
| Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States. | Horimoto ARVR 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 analysis and replication in 810,625 individuals with varicose veins. | Ahmed WU et al. | β | 2022 | β |
| Genome-wide association analysis reveals insights into the genetic architecture of right ventricular structure and function. | Aung N et al. | β | 2022 | β |
| Genome-wide association studies of survival in 1520 cancer patients treated with bevacizumab-containing regimens. | Quintanilha JCF et al. | β | 2022 | β |
| Genome-Wide Association Study for eGFR in a Taiwanese Population. | Chen YC et al. | β | 2022 | β |
| Genome-wide association study identifies genetic risk loci for adiposity in a Taiwanese population. | Wong HS et al. | β | 2022 | β |
| Genome-wide association study identifies SjΓΆgren's risk loci with functional implications in immune and glandular cells. | Khatri B et al. | β | 2022 | β |
| Genome-wide association study identifies tumor anatomical site-specific risk variants for colorectal cancer survival. | Labadie JD et al. | β | 2022 | β |
| Genome-wide association study in patients with posterior urethral valves. | van der Zanden LFM et al. | β | 2022 | β |
| Genome-wide association study meta-analysis identifies three novel loci for circulating anti-MΓΌllerian hormone levels in women. | Verdiesen RMG et al. | β | 2022 | β |
| Genome-Wide Association Study of Alzheimer's Disease Brain Imaging Biomarkers and Neuropsychological Phenotypes in the European Medical Information Framework for Alzheimer's Disease Multimodal Biomarker Discovery Dataset. | Homann J et al. | β | 2022 | β |
| Genome-wide association study of aromatase inhibitor discontinuation due to musculoskeletal symptoms. | Hertz DL et al. | β | 2022 | β |
| Genome-wide association study of cerebellar volume provides insights into heritable mechanisms underlying brain development and mental health. | Tissink E et al. | β | 2022 | β |
| Genome-Wide Association Study of Clinical Outcome After Aneurysmal Subarachnoid Haemorrhage: Protocol. | Gaastra B et al. | β | 2022 | β |
| Genome-wide interaction analysis identified low-frequency variants with sex disparity in lung cancer risk. | Li Y et al. | β | 2022 | β |
| Genome-wide meta-analyses reveal novel loci for verbal short-term memory and learning. | Lahti J et al. | β | 2022 | β |
| Genome-wide meta-analysis of insomnia prioritizes genes associated with metabolic and psychiatric pathways. | Watanabe K et al. | β | 2022 | β |
| Genome-wide meta-analysis of phytosterols reveals five novel loci and a detrimental effect on coronary atherosclerosis. | Scholz M et al. | β | 2022 | β |
| Genome-wide study on 72,298 individuals in Korean biobank data for 76 traits. | Nam K 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 |
| GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating Ξ±-Klotho levels. | Gergei I et al. | β | 2022 | β |
| Health influenced by genetics: A first comprehensive analysis of breast cancer high and moderate penetrance susceptibility genes in the Tunisian population. | Boujemaa M et al. | β | 2022 | β |
| <i>CELSR1</i> Risk Alleles in Familial Bicuspid Aortic Valve and Hypoplastic Left Heart Syndrome. | Theis JL et al. | β | 2022 | β |
| Identification and Somatic Characterization of the Germline <i>PTEN</i> Promoter Variant rs34149102 in a Family with Gastrointestinal and Breast Tumors. | Disciglio V et al. | β | 2022 | β |
| Identification of genetic loci that overlap between schizophrenia and metabolic syndrome. | Lv H et al. | β | 2022 | β |
| Identifying Genetic Biomarkers Predicting Response to Anti-Vascular Endothelial Growth Factor Injections in Diabetic Macular Edema. | Gurung RL et al. | β | 2022 | β |
| Identifying novel genetic loci associated with polycystic ovary syndrome based on its shared genetic architecture with type 2 diabetes. | Li X et al. | β | 2022 | β |
| <i>GARP</i> Polymorphisms Associated with Susceptibility to House Dust Mite-Sensitized Persistent Allergic Rhinitis in a Chinese Population. | Chen XY et al. | β | 2022 | β |
| Impact of Multiple Sclerosis Risk Polymorphism rs7665090 on MANBA Activity, Lysosomal Endocytosis, and Lymphocyte Activation. | GonzΓ‘lez-JimΓ©nez A et al. | β | 2022 | β |
| <i>NCOR2</i> is a novel candidate gene for migraine-epilepsy phenotype. | Nuottamo ME et al. | β | 2022 | β |
| In silico comprehensive analysis of coding and non-coding SNPs in human mTOR protein. | Yasmin T | β | 2022 | β |
| Integrative analysis prioritizes the relevant genes and risk factors for chronic venous disease. | He R et al. | β | 2022 | β |
| Integrative Identification of Genetic Loci Jointly Influencing Diabetes-Related Traits and Sleep Traits of Insomnia, Sleep Duration, and Chronotypes. | Ma Y 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 |
| <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 |
| Linkage analysis identifies an isolated strabismus locus at 14q12 overlapping with FOXG1 syndrome region. | Ye XC et al. | β | 2022 | β |
| Loss-of-function variants in <i>SAT1</i> cause X-linked childhood-onset systemic lupus erythematosus. | Xu L et al. | β | 2022 | β |
| Manipulation of Interleukin-6 (IL-6) and Transforming Growth Factor Beta-1(TGFΞ²-1) towards viral induced liver cancer pathogenesis. | Badshah Y 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 |
| Microglia in Alzheimer's Disease: a Key Player in the Transition Between Homeostasis and Pathogenesis. | McFarland KN et al. | β | 2022 | β |
| MODalyseR-a novel software for inference of disease module hub regulators identified a putative multiple sclerosis regulator supported by independent eQTL data. | de Weerd HA et al. | β | 2022 | β |
| Molecular Alterations of the Endocannabinoid System in Psychiatric Disorders. | Navarro D et al. | β | 2022 | β |
| Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke. | Ibanez L et al. | β | 2022 | β |
| Multiplexed functional genomic assays to decipher the noncoding genome. | Cooper YA et al. | β | 2022 | β |
| Novel Functional eQTL-SNPs Associated With Susceptibility to <i>Mycoplasma pneumoniae</i> Pneumonia in Children. | Dong Y et al. | β | 2022 | β |
| Oxytocin and vasotocin receptor variation and the evolution of human prosociality. | Theofanopoulou C et al. | β | 2022 | β |
| Pharmacogenomic study of heart failure and candesartan response from the CHARM programme. | DubΓ© MP et al. | β | 2022 | β |
| PIK3R5 genetic predictors of hypertension induced by VEGF-pathway inhibitors. | Quintanilha JCF et al. | β | 2022 | β |
| Pilot genome-wide association study of antibody response to inactivated SARS-CoV-2 vaccines. | Li P et al. | β | 2022 | β |
| Pinpointing novel risk loci for Lewy body dementia and the shared genetic etiology with Alzheimer's disease and Parkinson's disease: a large-scale multi-trait association analysis. | Guo P et al. | β | 2022 | β |
| Pleiotropic Enhancers are Ubiquitous Regulatory Elements in the Human Genome. | Laiker I et al. | β | 2022 | β |
| Polygenic risk score for ACE-inhibitor-associated cough based on the discovery of new genetic loci. | Ghouse J et al. | β | 2022 | β |
| Polympact: exploring functional relations among common human genetic variants. | Valentini S et al. | β | 2022 | β |
| PopHumanVar: an interactive application for the functional characterization and prioritization of adaptive genomic variants in humans. | Colomer-Vilaplana A et al. | β | 2022 | β |
| Positive selection acts on regulatory genetic variants in populations of European ancestry that affect ALDH2 gene expression. | Schaschl H 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 |
| Prioritization of regulatory variants with tissue-specific function in the non-coding regions of human genome. | Dong S et al. | β | 2022 | β |
| PRKCE non-coding variants influence on transcription as well as translation of its gene. | Khan K et al. | β | 2022 | β |
| Repurposing Drugs via Network Analysis: Opportunities for Psychiatric Disorders. | Truong TTT et al. | β | 2022 | β |
| Retinoic Acid: Sexually Dimorphic, Anti-Insulin and Concentration-Dependent Effects on Energy. | Napoli JL | β | 2022 | β |
| Scalable approaches for functional analyses of whole-genome sequencing non-coding variants. | Kuksa PP 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 |
| Severe COVID-19-associated variants linked to chemokine receptor gene control in monocytes and macrophages. | Stikker BS et al. | β | 2022 | β |
| Shared genetic architecture of hernias: A genome-wide association study with multivariable meta-analysis of multiple hernia phenotypes. | Ahmed WU et al. | β | 2022 | β |
| Shared genetic loci between depression and cardiometabolic traits. | Torgersen K et al. | β | 2022 | β |
| Shared Genetic Regulatory Networks Contribute to Neuropathic and Inflammatory Pain: Multi-Omics Systems Analysis. | Ye F et al. | β | 2022 | β |
| Single nucleotide polymorphisms in <i>FOXP1</i> and <i>RORA</i> of the lymphocyte activation-related pathway affect survival of lung cancer patients. | Du H et al. | β | 2022 | β |
| Single Nucleotide Variants in KIF14 Gene May Have Prognostic Value in Breast Cancer. | Krus I et al. | β | 2022 | β |
| Splenic clearance of rigid erythrocytes as an inherited mechanism for splenomegaly and natural resistance to malaria. | Henry B 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 |
| Targeted resequencing of the 13q13 spondyloarthritis-linked locus identifies a rare variant in FREM2 possibly associated with familial spondyloarthritis. | Mambueni HM et al. | β | 2022 | β |
| The association of <i>ARRB1</i> polymorphisms with response to antidepressant treatment in depressed patients. | Chappell K et al. | β | 2022 | β |
| The association of <i>BTLA</i> gene polymorphisms with non-small lung cancer risk in smokers and never-smokers. | Andrzejczak A et al. | β | 2022 | β |
| The genetic architecture of language functional connectivity. | Mekki Y et al. | β | 2022 | β |
| The genetic architecture of pneumonia susceptibility implicates mucin biology and a relationship with psychiatric illness. | Reay WR et al. | β | 2022 | β |
| The glucocorticoid receptor represses, whereas C/EBPΞ² can enhance or repress <i>CYP26A1</i> transcription. | Yoo HS et al. | β | 2022 | β |
| The Impact of Genetic Polymorphisms in Glutamate-Cysteine Ligase, a Key Enzyme of Glutathione Biosynthesis, on Ischemic Stroke Risk and Brain Infarct Size. | Polonikov A et al. | β | 2022 | β |
| TIMP2 genetic variation rs4789932 may associate with anΒ increased risk of developing acne scarring based on a case-control study of Chinese Han population. | Wen X et al. | β | 2022 | β |
| Transcript levels in plasma contribute substantial predictive value as potential Alzheimer's disease biomarkers in African Americans. | Reddy JS et al. | β | 2022 | β |
| TSABL: Trait Specific Annotation Based Locus predictor. | Lorenz K et al. | β | 2022 | β |
| Two distinct mechanisms underlie estrogen-receptor-negative breast cancer susceptibility at the 2p23.2 locus. | Mendoza-FandiΓ±o G et al. | β | 2022 | β |
| Uniting biobank resources reveals novel genetic pathways modulating susceptibility for atopic dermatitis. | Sliz E et al. | β | 2022 | β |
| VannoPortal: multiscale functional annotation of human genetic variants for interrogating molecular mechanism of traits and diseases. | Huang D 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 |
| Variants Tagging <i>LGALS-3</i> Haplotype Block in Association with First Myocardial Infarction and Plasma Galectin-3 Six Months after the Acute Event. | Djordjevic A et al. | β | 2022 | β |
| Verification of immunology-related genetic associations in BPD supports ABCA3 and five other genes. | Blume F et al. | β | 2022 | β |
| Whole genome sequencing delineates regulatory, copy number, and cryptic splice variants in early onset cardiomyopathy. | Lesurf R et al. | β | 2022 | 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 comprehensive integrated post-GWAS analysis of Type 1 diabetes reveals enhancer-based immune dysregulation. | Kim SS et al. | β | 2021 | β |
| A computational in silico approach to predict high-risk coding and non-coding SNPs of human PLCG1 gene. | Khan SM et al. | β | 2021 | β |
| Admixture/fine-mapping in Brazilians reveals a West African associated potential regulatory variant (rs114066381) with a strong female-specific effect on body mass and fat mass indexes. | Scliar MO 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 genetic variant conferred high expression of CAV2 promotes pancreatic cancer progression and associates with poor prognosis. | Zhu Y et al. | β | 2021 | β |
| A Genome-wide Association Study for Concussion Risk. | Kim SK et al. | β | 2021 | β |
| A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans. | Chen Y et al. | β | 2021 | β |
| AKR1C2 and AKR1C3 expression in adipose tissue: Association with body fat distribution and regulatory variants. | Ostinelli G et al. | β | 2021 | β |
| A large Canadian cohort provides insights into the genetic architecture of human hair colour. | Lona-Durazo F et al. | β | 2021 | β |
| Altered regulation of DPF3, a member of the SWI/SNF complexes, underlies the 14q24 renal cancer susceptibility locus. | Colli LM et al. | β | 2021 | β |
| A map of copy number variations in the Tunisian population: a valuable tool for medical genomics in North Africa. | Romdhane L 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-layer functional genomic analysis to understand noncoding genetic variation in lipids | Ramdas S 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 |
| Ancestry specific associations of a genetic risk score, dietary patterns and metabolic syndrome: a longitudinal ARIC study. | Hardy DS et al. | β | 2021 | β |
| An integrated multi-omic analysis of iPSC-derived motor neurons from C9ORF72 ALS patients. | NeuroLINCS Consortium et al. | β | 2021 | β |
| A Novel CYP2C-Haplotype Associated With Ultrarapid Metabolism of Escitalopram. | BrΓ₯ten LS et al. | β | 2021 | β |
| A signature of Neanderthal introgression on molecular mechanisms of environmental responses. | Findley AS et al. | β | 2021 | β |
| Association analysis of miRNA-related genetic polymorphisms in miR-143/145 and KRAS with colorectal cancer susceptibility and survival. | Wang D et al. | β | 2021 | β |
| Association between Genetic Variants and Cisplatin-Induced Nephrotoxicity: A Genome-Wide Approach and Validation Study. | Zazuli Z et al. | β | 2021 | β |
| Association of CHI3L1 gene variants with YKL-40 levels and hypertension incidence: A population-based nested case-control study in China. | Xu T et al. | β | 2021 | β |
| Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis. | Kim SK et al. | β | 2021 | β |
| Association of DLL1 with type 1 diabetes in patients characterized by low polygenic risk score. | Qu J 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 Affecting microRNAs and Pancreatic Cancer Risk. | Lu Y 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 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 LINC00673 Genetic Variants with Progression of Oral Cancer. | Su SC et al. | β | 2021 | β |
| Associations of GWAS-Identified Risk Loci with Progression, Efficacy and Toxicity of Radiotherapy of Head and Neck Squamous Cell Carcinoma Treated with Radiotherapy. | Li Q 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 |
| A UVB-responsive common variant at chromosome band 7p21.1 confers tanning response and melanoma risk via regulation of the aryl hydrocarbon receptor, AHR. | Xu M 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 |
| Brain Magnetic Resonance Imaging Phenome-Wide Association Study With Metal Transporter Gene <i>SLC39A8</i>. | Hermann ER 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 |
| Characterising the shared genetic determinants of bipolar disorder, schizophrenia and risk-taking. | Hindley G et al. | β | 2021 | β |
| Cholesterol-related gene variants are associated with diabetes in coronary artery disease patients. | Ozuynuk AS et al. | β | 2021 | β |
| Chromatin Accessibility of Human Mitral Valves and Functional Assessment of MVP Risk Loci. | Kyryachenko S et al. | β | 2021 | β |
| Chromosome X-wide Analysis of Positive Selection in Human Populations: Common and Private Signals of Selection and its Impact on Inactivated Genes and Enhancers. | Villegas-MirΓ³n P et al. | β | 2021 | β |
| Clinical and genetic risk factors for radiation-associated ototoxicity: A report from the Childhood Cancer Survivor Study and the St. Jude Lifetime Cohort. | Trendowski MR et al. | β | 2021 | β |
| Clustering suicidal phenotypes and genetic associations with brain-derived neurotrophic factor in patients with substance use disorders. | Icick R et al. | β | 2021 | β |
| Combining artificial intelligence: deep learning with Hi-C data to predict the functional effects of non-coding variants. | Meng XH et al. | β | 2021 | β |
| Comprehensive Characterization of the Coding and Non-Coding Single Nucleotide Polymorphisms in the Tumor Protein p63 (TP63) Gene Using In Silico Tools. | Akter S et al. | β | 2021 | β |
| Comprehensive Integrative Analyses Identify TIGD5 rs75547282 as a Risk Variant for Autism Spectrum Disorder. | Xie X et al. | β | 2021 | β |
| Computational analysis of Cyclin D1 gene SNPs and association with breast cancer. | Aftab A et al. | β | 2021 | β |
| Convergent lines of evidence support <i>NOTCH4</i> as a schizophrenia risk gene. | Zhang Y et al. | β | 2021 | β |
| Cross-ancestry genome-wide association studies identified heterogeneous loci associated with differences of allele frequency and regulome tagging between participants of European descent and other ancestry groups from the UK Biobank. | De Lillo A et al. | β | 2021 | β |
| Deciphering the genetic and epidemiological landscape of mitochondrial DNA abundance. | HΓ€gg S et al. | β | 2021 | β |
| Dioxin exposure associated with fecundability and infertility in mothers and daughters of Seveso, Italy. | Eskenazi B 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 |
| Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans. | Fatumo S et al. | β | 2021 | β |
| Disruption of RFX family transcription factors causes autism, attention-deficit/hyperactivity disorder, intellectual disability, and dysregulated behavior. | Harris HK et al. | β | 2021 | β |
| Dissecting the contribution of single nucleotide polymorphisms in <i>CCR9</i> and <i>CCL25</i> genomic regions to the celiac disease phenotype. | Airaksinen L et al. | β | 2021 | β |
| DNA methylation at a nutritionally sensitive region of the <i>PAX8</i> gene is associated with thyroid volume and function in Gambian children. | Candler T 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 |
| Do myeloproliferative neoplasms and multiple myeloma share the same genetic susceptibility loci? | Macauda A et al. | β | 2021 | β |
| Dysregulation of vitamin D synthesis pathway genes in colorectal cancer: A case-control study. | Sadeghi H et al. | β | 2021 | β |
| Effect and in silico characterization of genetic variants associated with severe spermatogenic disorders in a large Iberian cohort. | CervΓ‘n-MartΓn M et al. | β | 2021 | β |
| Elucidation of disease etiology by trans-layer omics analysis. | Shirai Y et al. | β | 2021 | β |
| Emerging Role of <i>ODC1</i> in Neurodevelopmental Disorders and Brain Development. | Prokop JW et al. | β | 2021 | β |
| Epidemiologic and Genetic Associations of Erythropoietin With Blood Pressure, Hypertension, and Coronary Artery Disease. | Sun P et al. | β | 2021 | β |
| Evaluating the association between single nucleotide polymorphisms in the stonin 2 (<i>STON2</i>) gene and keratoconus in a Han Chinese population. | Zhang J et al. | β | 2021 | β |
| Examination of Genetic Variants Revealed from a Rat Model of Brain Ischemia in Patients with Ischemic Stroke: A Pilot Study. | Khrunin AV et al. | β | 2021 | β |
| Excess Heritability Contribution of Alcohol Consumption Variants in the "Missing Heritability" of Type 2 Diabetes Mellitus. | Ma Y et al. | β | 2021 | β |
| Expression quantitative trait loci of genes predicting outcome are associated with survival of multiple myeloma patients. | Macauda A et al. | β | 2021 | β |
| Extensive bidirectional genetic overlap between bipolar disorder and cardiovascular disease phenotypes. | RΓΈdevand L et al. | β | 2021 | β |
| Fine-Mapping of the Major Histocompatibility Complex Region Linked to Leprosy in Northern China. | Zhang R et al. | β | 2021 | β |
| Fine-mapping of the non-coding variation driving the Caucasian LRRK2 GWAS signal in Parkinson's disease. | Heckman MG et al. | β | 2021 | β |
| Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians. | Guibon J et al. | β | 2021 | β |
| Fine-mapping, trans-ancestral and genomic analyses identify causal variants, cells, genes and drug targets for type 1 diabetes. | Robertson CC 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 Deletion/Insertion Promoter Variants in <i>SCARB1</i> Associated With Increased Susceptibility to Lipid Profile Abnormalities and Coronary Heart Disease. | Hu S 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 relationship of SNP (Ala490Thr) of an epigenetic gene <i>EZH2</i> results in the progression and poor survival of ER+/tamoxifen treated breast cancer patients. | Gautam N 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 |
| Gene-Environment Interaction Analysis Incorporating Sex, Cardiometabolic Diseases, and Multiple Deprivation Index Reveals Novel Genetic Associations With COVID-19 Severity. | Westerman KE et al. | β | 2021 | β |
| Gene Expression Imputation Across Multiple Tissue Types Provides Insight Into the Genetic Architecture of Frontotemporal Dementia and Its Clinical Subtypes. | Reus LM et al. | β | 2021 | β |
| Gene networks and pathways for plasma lipid traits via multitissue multiomics systems analysis. | Blencowe M et al. | β | 2021 | β |
| Genetically determined telomere length and multiple myeloma risk and outcome. | Giaccherini M et al. | β | 2021 | β |
| Genetic Association Between Schizophrenia and Cortical Brain Surface Area and Thickness. | Cheng W 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 Association Study Revealed Three Loci Were Associated Risk of Myopia Among Minors. | Zhou Z et al. | β | 2021 | β |
| Genetic determinants of multiple myeloma risk within the Wnt/beta-catenin signaling pathway. | Belachew AA 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 Evidence on the Association of Interleukin (IL)-1-Mediated Chronic Inflammation with Airflow Obstruction: A Mendelian Randomization Study. | Yang Z et al. | β | 2021 | β |
| Genetic loci shared between major depression and intelligence with mixed directions of effect. | Bahrami S et al. | β | 2021 | β |
| Genetic Overlap Between Attention Deficit/Hyperactivity Disorder and Autism Spectrum Disorder in <i>SHANK2</i> Gene. | Ma SL et al. | β | 2021 | β |
| Genetic Polymorphism of Vitamin D Family Genes <i>CYP2R1</i>, <i>CYP24A1</i>, and <i>CYP27B1</i> Are Associated With a High Risk of Non-alcoholic Fatty Liver Disease: A Case-Control Study. | Wang M et al. | β | 2021 | β |
| Genetic Polymorphisms of <i>IFNG</i>, <i>IFNGR1</i>, and Androgen Receptor and Chronic Prostatitis/Chronic Pelvic Pain Syndrome in a Chinese Han Population. | Chen L et al. | β | 2021 | β |
| Genetic predisposition in the 2'-5'A pathway in the development of type 1 diabetes: potential contribution to dysregulation of innate antiviral immunity. | Pedersen K et al. | β | 2021 | β |
| Genetics of symptom remission in outpatients with COVID-19. | DubΓ© MP et al. | β | 2021 | β |
| Genetic susceptibility to hepatocellular carcinoma in chromosome 22q13.31, findings of a genome-wide association study. | Wang Z et al. | β | 2021 | β |
| Genetic Variants Associated With Intraparenchymal Hemorrhage Progression After Traumatic Brain Injury. | Jha RM et al. | β | 2021 | β |
| Genetic variants associated with rotator cuff tearing utilizing multiple population-based genetic resources. | Tashjian RZ et al. | β | 2021 | β |
| Genetic variants in miRNAs differentially expressed during brain development and their relevance to psychiatric disorders susceptibility. | Brum CB et al. | β | 2021 | β |
| Genetic variants of CHEK1, PRIM2 and CDK6 in the mitotic phase-related pathway are associated with nonsmall cell lung cancer survival. | Mu R et al. | β | 2021 | β |
| Genetic Variants of <i>CLEC4E</i> and <i>BIRC3</i> in Damage-Associated Molecular Patterns-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. | Liu L et al. | β | 2021 | β |
| Genetic Variants of <i>CLPP</i> and <i>M1AP</i> Are Associated With Risk of Non-Small Cell Lung Cancer. | Li X et al. | β | 2021 | β |
| Genetic variants of <i>DOCK2</i>, <i>EPHB1</i> and <i>VAV2</i> in the natural killer cell-related pathway are associated with non-small cell lung cancer survival. | Du H et al. | β | 2021 | β |
| Genetic Variation and Recurrent Haplotypes on Chromosome 6q23-25 Risk Locus in Familial Lung Cancer. | Musolf AM et al. | β | 2021 | β |
| Genetic variation in NDFIP1 modifies the metabolic patterns in immune cells of multiple sclerosis patients. | LΓ³pez-Cotarelo 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 analysis identifies a novel LINC-PINT splice variant associated with vascular amyloid pathology in Alzheimer's disease. | Reddy JS 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 Across 16,956 Patients Identifies a Novel Genetic Association Between BMP6, NIPAL1, CNGA1 and Spondylosis. | Zhang Y et al. | β | 2021 | β |
| Genome-wide association analysis in dilated cardiomyopathy reveals two new players in systolic heart failure on chromosomes 3p25.1 and 22q11.23. | Garnier S et al. | β | 2021 | β |
| Genome-wide association analysis of metabolic syndrome quantitative traits in the GENNID multiethnic family study. | Wan JY et al. | β | 2021 | β |
| Genome-Wide Association Analysis of Neonatal White Matter Microstructure. | Zhang J et al. | β | 2021 | β |
| Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women. | Dai H et al. | β | 2021 | β |
| Genome-Wide Association Meta-Analysis Supports Genes Involved in Valve and Cardiac Development to Associate With Mitral Valve Prolapse. | Yu M et al. | β | 2021 | β |
| Genome-wide association study identified INSC gene associated with Trail Making Test Part A and Alzheimer's disease related cognitive phenotypes. | Wang K et al. | β | 2021 | β |
| Genome wide association study identifies four loci for early onset schizophrenia. | Guo S et al. | β | 2021 | β |
| Genome-wide association study identifies novel susceptibility loci for KIT D816V positive mastocytosis. | GalatΓ G et al. | β | 2021 | β |
| Genome-wide association study in patients with pulmonary <i>Mycobacterium avium</i> complex disease. | Namkoong H et al. | β | 2021 | β |
| Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL. | Justice AE et al. | β | 2021 | β |
| Genome-wide association study of letrozole plasma concentrations identifies non-exonic variants that may affect CYP2A6 metabolic activity. | Hertz DL et al. | β | 2021 | β |
| Genome-wide meta-analysis identifies 127 open-angle glaucoma loci with consistent effect across ancestries. | Gharahkhani P 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 selection signatures in autism spectrum disorder identifies cognitive genomic tradeoff and its relevance in paradoxical phenotypes of deficits versus potentialities. | Prakash A et al. | β | 2021 | β |
| Genomic, transcriptomic, and protein landscape profile of CFTR and cystic fibrosis. | Sanders M 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 Variation and Somatic Alterations in Ewing Sarcoma. | Machiela MJ 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 |
| High-altitude pulmonary edema is aggravated by risk loci and associated transcription factors in HIF-prolyl hydroxylases. | Sharma K et al. | β | 2021 | β |
| Identification of deleterious single nucleotide polymorphism (SNP)s in the human <i>TBX5</i> gene & prediction of their structural & functional consequences: An <i>in silico</i> approach. | Mahfuz AMUB et al. | β | 2021 | β |
| Identification of genetic variants in m<sup>6</sup>A modification genes associated with pancreatic cancer risk in the Chinese population. | Ying P et al. | β | 2021 | β |
| Identification of Recessively Inherited Genetic Variants Potentially Linked to Pancreatic Cancer Risk. | Lu Y 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 |
| Identification of Three Loci Associated with Achilles Tendon Injury Risk from a Genome-wide Association Study. | Kim SK et al. | β | 2021 | β |
| Impact of immune checkpoint gene CD155 Ala67Thr and CD226 Gly307Ser polymorphisms on small cell lung cancer clinical outcome. | Lee JH et al. | β | 2021 | β |
| <i>NAMPT</i> single-nucleotide polymorphism rs1319501 and visfatin/NAMPT affect nitric oxideΒ formation, sFlt-1 and antihypertensive therapy response in preeclampsia. | Pereira DA 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 |
| Insilico Functional Analysis of Genome-Wide Dataset From 17,000 Individuals Identifies Candidate Malaria Resistance Genes Enriched in Malaria Pathogenic Pathways. | Damena D et al. | β | 2021 | β |
| Integrative Analyses Followed by Functional Characterization Reveal TMEM180 as a Schizophrenia Risk Gene. | Wang JY et al. | β | 2021 | β |
| Integrative assessment of CIP2A overexpression and mutational effects in human malignancies identifies possible deleterious variants. | Tarek MM et al. | β | 2021 | β |
| Integrative epigenomic and high-throughput functional enhancer profiling reveals determinants of enhancer heterogeneity in gastric cancer. | Sheng T 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 |
| <i>WSB1</i> and <i>IL21R</i> Genetic Variants Are Involved in Th2 Immune Responses to <i>Ascaris lumbricoides</i>. | Carneiro VL 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 |
| Leveraging auxiliary data from arbitrary distributions to boost GWAS discovery with Flexible cFDR. | Hutchinson A 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 |
| Low frequency variants associated with leukocyte telomere length in the Singapore Chinese population. | Chang X 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 |
| Machine learning based disease prediction from genotype data. | Katsaouni N et al. | β | 2021 | β |
| Mendelian randomization study of interleukin (IL)-1 family and lung cancer. | Yang Z et al. | β | 2021 | β |
| Mergeomics 2.0: a web server for multi-omics data integration to elucidate disease networks and predict therapeutics. | Ding J et al. | β | 2021 | β |
| Methylome-wide Analysis Reveals Epigenetic Marks Associated With Resistance to Tuberculosis in Human Immunodeficiency Virus-Infected Individuals From East Africa. | Stein CM 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 |
| MobiDetails: online DNA variants interpretation. | Baux D 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-environment gene interactions linked to the interplay between polysubstance dependence and suicidality. | Polimanti R et al. | β | 2021 | β |
| Network-based analysis on genetic variants reveals the immunological mechanism underlying Alzheimer's disease. | Guo P et al. | β | 2021 | β |
| Neurocognitive outcomes in indonesians living with HIV are influenced by polymorphisms in the gene encoding purinergic P2X receptor 7. | Gaff J et al. | β | 2021 | β |
| New susceptible locus, rs9428555, is associated with pediatric-onset immunoglobulin A nephropathy and immunoglobulin A vasculitis in Koreans. | Lee M et al. | β | 2021 | β |
| Next-Generation Sequencing of CYP2C19 in Stent Thrombosis: Implications for Clopidogrel Pharmacogenomics. | Morales-Rosado JA et al. | β | 2021 | β |
| Pharmacogenetic Predictors of Cannabidiol Response and Tolerability in Treatment-Resistant Epilepsy. | Davis BH 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 |
| Polygenic overlap and shared genetic loci between loneliness, severe mental disorders, and cardiovascular disease risk factors suggest shared molecular mechanisms. | RΓΈdevand L et al. | β | 2021 | β |
| Polymorphisms in TYMS for Prediction of Capecitabine-Induced Hand-Foot Syndrome in Chinese Patients with Colorectal Cancer. | Dong SQ et al. | β | 2021 | β |
| Polymorphisms of the <i>FCN2</i> Gene 3'UTR Region and Their Clinical Associations in Preterm Newborns. | Εwierzko AS et al. | β | 2021 | β |
| Potentially functional variants of ERAP1, PSMF1 and NCF2 in the MHC-I-related pathway predict non-small cell lung cancer survival. | Yang S et al. | β | 2021 | β |
| Prioritization of disease genes from GWAS using ensemble-based positive-unlabeled learning. | Kolosov N et al. | β | 2021 | β |
| Public data sources for regulatory genomic features. | Garda S 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 |
| Regional heritability mapping identifies several novel loci (STAT4, ULK4, and KCNH5) for primary biliary cholangitis in the Japanese population. | Gervais O et al. | β | 2021 | β |
| Regulatory SNP of <i>RREB1</i> is Associated With Bone Mineral Density in Chinese Postmenopausal Osteoporosis Patients. | Feng S et al. | β | 2021 | β |
| Regulatory variants in TCF7L2 are associated with thoracic aortic aneurysm. | Roychowdhury T et al. | β | 2021 | β |
| Relevance of PD-L1 Non-Coding Polymorphisms on the Prognosis of a Genetically Admixed NSCLC Cohort. | Machado-Rugolo J et al. | β | 2021 | β |
| Replication of HLA class II locus association with susceptibility to podoconiosis in three Ethiopian ethnic groups. | Gebresilase T et al. | β | 2021 | β |
| Resistance to TST/IGRA conversion in Uganda: Heritability and Genome-Wide Association Study. | McHenry ML et al. | β | 2021 | β |
| Revisiting Schizophrenia from an Evolutionary Perspective: An Association Study of Recent Evolutionary Markers and Schizophrenia. | Bhattacharyya U et al. | β | 2021 | β |
| Rs4911154 of circ-ITCH aggravated tumor malignancy of thyroid nodules via the circ-ITCH/miR-22-3p/CBL axis. | Guo Y et al. | β | 2021 | β |
| Shared genetic architecture between neuroticism, coronary artery disease and cardiovascular risk factors. | Torgersen K et al. | β | 2021 | β |
| Shifting epigenetic contexts influence regulatory variation and disease risk. | Richard D et al. | β | 2021 | β |
| Single-Nucleotide Polymorphism LncRNA AC008392.1/rs7248320 in CARD8 is Associated with Kawasaki Disease Susceptibility in the Han Chinese Population. | Guo K et al. | β | 2021 | β |
| Single nucleotide variations in ZBTB46 are associated with post-thrombolytic parenchymal haematoma. | Carrera C 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 |
| SNP-mediated binding of TBX1 to the enhancer element of <i>IL-10</i> reduces the risk of BehΓ§et's disease. | Tan H et al. | β | 2021 | β |
| Structure analysis of deleterious nsSNPs in human PALB2 protein for functional inference. | Nawar N 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 |
| The genetic architecture of structural left-right asymmetry of the human brain. | Sha Z et al. | β | 2021 | β |
| The genetic architecture of the human thalamus and its overlap with ten common brain disorders. | ElvsΓ₯shagen T et al. | β | 2021 | β |
| The osteoporosis risk variant rs9820407 at 3p22.1 acts as an allele-specific enhancer to regulate CTNNB1 expression by long-range chromatin loop formation. | Wang Y 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 |
| Three genes associated with anterior and posterior cruciate ligament injury : a genome-wide association analysis. | Kim SK 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-ancestral dissection of urate- and gout-associated major loci SLC2A9 and ABCG2 reveals primate-specific regulatory effects. | Takei R et al. | β | 2021 | β |
| Transcriptional Silencers: Driving Gene Expression with the Brakes On. | Segert JA et al. | β | 2021 | β |
| Translating genetic association of lipid levels for biological and clinical application. | Crone B et al. | β | 2021 | β |
| VARAdb: a comprehensive variation annotation database for human. | Pan Q et al. | β | 2021 | β |
| Variants in NEB and RIF1 genes on chr2q23 are associated with skeletal muscle index in Koreans: genome-wide association study. | Yoon KJ 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 |
| Accounting for diverse evolutionary forces reveals mosaic patterns of selection on human preterm birth loci. | LaBella AL et al. | β | 2020 | β |
| Allele-specific DNA methylation is increased in cancers and its dense mapping in normal plus neoplastic cells increases the yield of disease-associated regulatory SNPs. | Do C et al. | β | 2020 | β |
| A mega-analysis of expression quantitative trait loci in retinal tissue. | Strunz T et al. | β | 2020 | β |
| A meta-analysis and <i>in silico</i> analysis of polymorphic variants conferring breast cancer risk in the Indian subcontinent. | Sengupta D et al. | β | 2020 | β |
| Analysis of Drug Metabolizing Gene Panel in Osteosarcoma Patients Identifies Association Between Variants in <i>SULT1E1, CYP2B6</i> and <i>CYP4F8</i> and Methotrexate Levels and Toxicities. | Hurkmans EGE et al. | β | 2020 | β |
| An ideal spacing is required for the control of Class II CRP-dependent promoters by the status of CRP K100. | Γcija-Conesa A et al. | β | 2020 | β |
| A reference catalog of DNA palindromes in the human genome and their variations in 1000 Genomes. | Ganapathiraju MK et al. | β | 2020 | β |
| Are vitamins relevant to cancer risks? A Mendelian randomization investigation. | Cheng WW et al. | β | 2020 | β |
| A single genetic locus associated with pediatric fractures: A genome-wide association study on 3,230 patients. | Parviainen R 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 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 germline variation with the survival of women with <i>BRCA1/2</i> pathogenic variants and breast cancer. | Muranen TA et al. | β | 2020 | β |
| Association of HOTAIR (rs920778 and rs1899663) and NME1 (rs16949649 and rs2302254) gene polymorphisms with breast cancer risk in India. | Rajagopal T et al. | β | 2020 | β |
| Association of Long Non-Coding RNA Polymorphisms with Gastric Cancer and Atrophic Gastritis. | Petkevicius V et al. | β | 2020 | β |
| Association of lymphotoxin-alpha gene polymorphisms (rs909253, rs1800683 and rs2229094) and risk of large-artery atherosclerosis stroke in Iranian population. | Fasihi A et al. | β | 2020 | β |
| Associations between genetic variants of KIF5B, FMN1, and MGAT3 in the cadherin pathway and pancreatic cancer risk. | Zhao L et al. | β | 2020 | β |
| Associations of genetic polymorphisms within <i>MALAT1</i>, <i>UCA1</i>, <i>FAM211A-AS1</i> and <i>AC000111.6</i> with genetic susceptibility to rheumatoid arthritis. | Zhang Z et al. | β | 2020 | β |
| Associations of novel variants in <i>PIK3C3</i>, <i>INSR</i> and <i>MAP3K4</i> of the ATM pathway genes with pancreatic cancer risk. | Zhao LL et al. | β | 2020 | β |
| Association Study of Coronary Artery Disease-Associated Genome-Wide Significant SNPs with Coronary Stenosis in Pakistani Population. | Cheema AN 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 |
| Atypical chemokine receptor ACKR2-V41A has decreased CCL2 binding, scavenging, and activation, supporting sustained inflammation and increased Alzheimer's disease risk. | Murcia JDG et al. | β | 2020 | β |
| Betaglycan Gene (<i>TGFBR3</i>) Polymorphism Is Associated with Increased Risk of Endometrial Cancer. | Zakrzewski PK et al. | β | 2020 | β |
| BRD4 and PIN1 gene polymorphisms are associated with high pulse pressure risk in a southeastern Chinese population. | Qiu JJ et al. | β | 2020 | β |
| Candidate Gene Analysis Reveals Strong Association of <i>CETP</i> Variants With High Density Lipoprotein Cholesterol and <i>PCSK9</i> Variants With Low Density Lipoprotein Cholesterol in Ghanaian Adults: An AWI-Gen Sub-Study. | Agongo G et al. | β | 2020 | β |
| Common Genetic Variants Modulate the Electrocardiographic Tpeak-to-Tend Interval. | RamΓrez J et al. | β | 2020 | β |
| Common genetic variation in obesity, lipid transfer genes and risk of Metabolic Syndrome: Results from IDEFICS/I.Family study and meta-analysis. | Nagrani R et al. | β | 2020 | β |
| Common variants in signaling transcription-factor-binding sites drive phenotypic variability in red blood cell traits. | Choudhuri A et al. | β | 2020 | β |
| Complex genetic dependencies among growth and neurological phenotypes in healthy children: Towards deciphering developmental mechanisms. | Uechi L et al. | β | 2020 | β |
| Comprehensive functional annotation of susceptibility variants associated with asthma. | Gautam Y et al. | β | 2020 | β |
| Deep sequencing reveals a DAP1 regulatory haplotype that potentiates autoimmunity in systemic lupus erythematosus. | Raj P et al. | β | 2020 | β |
| Disruptive natural selection by male reproductive potential prevents underexpression of protein-coding genes on the human Y chromosome as a self-domestication syndrome. | Ponomarenko M et al. | β | 2020 | β |
| Does conserved domain SOD1 mutation has any role in ALS severity and therapeutic outcome? | Pal S et al. | β | 2020 | β |
| Epigenetic Vulnerability of Insulator CTCF Motifs at Parkinson's Disease-Associated Genes in Response to Neurotoxicant Rotenone. | Freeman DM et al. | β | 2020 | β |
| Ethnic variation and the relevance of homozygous RNF 213 p.R4810.K variant in the phenotype of Indian Moya moya disease. | K A et al. | β | 2020 | β |
| Evaluation of genetic susceptibility of common variants in SOX9 in patients with congenital talipes equinovarus in the Han Chinese population. | Li J et al. | β | 2020 | β |
| Evaluation of Male Fertility-Associated Loci in a European Population of Patients with Severe Spermatogenic Impairment. | CervΓ‘n-MartΓn M et al. | β | 2020 | β |
| Evidence for craniofacial enhancer variation underlying nonsyndromic cleft lip and palate. | Morris VE et al. | β | 2020 | β |
| Extreme Phenotype Approach Suggests Taste Transduction Pathway for Carotid Plaque in a Multi-Ethnic Cohort. | Dueker ND et al. | β | 2020 | β |
| FADS2 polymorphisms are associated with plasma arachidonic acid and estimated desaturase-5 activity in a cross-sectional study. | Zec MM 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 |
| Functional polymorphisms of BCL11A and HBS1L-MYB genes affect both fetal hemoglobin level and clinical outcomes in a cohort of children with sickle cell anemia. | Sales RR et al. | β | 2020 | β |
| Genetic polymorphisms associated with telomere length and risk of developing myeloproliferative neoplasms. | Giaccherini M 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 |
| Genetic susceptibility to nicotine addiction: Advances and shortcomings in our understanding of the CHRNA5/A3/B4 gene cluster contribution. | Icick R et al. | β | 2020 | β |
| Genetic variants in GHR and PLCE1 genes are associated with susceptibility to esophageal cancer. | Wang R et al. | β | 2020 | β |
| Genetic variants modulate gene expression statin response in human lymphoblastoid cell lines. | Theusch E 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 |
| Genome-wide association meta-analysis identifies GP2 gene risk variants for pancreatic cancer. | Lin Y 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 for Alcohol-Related Cirrhosis Identifies Risk Loci in MARC1 and HNRNPUL1. | Innes H et al. | β | 2020 | β |
| Genome-wide association study identifies genetic susceptibility loci and pathways of radiation-induced acute oral mucositis. | Yang DW et al. | β | 2020 | β |
| Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis. | Meguro A et al. | β | 2020 | β |
| Genome-wide meta-analysis of brain volume identifies genomic loci and genes shared with intelligence. | Jansen PR et al. | β | 2020 | β |
| Genome-wide pathogenesis interpretation using a heat diffusion-based systems genetics method and implications for gene function annotation. | Quan Y 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 |
| Genotype-Based Gene Expression in Colon Tissue-Prediction Accuracy and Relationship with the Prognosis of Colorectal Cancer Patients. | Deutelmoser H et al. | β | 2020 | β |
| Hepatic lipase (LIPC) sequencing in individuals with extremely high and low high-density lipoprotein cholesterol levels. | Pirim D et al. | β | 2020 | β |
| Identification of a functional SNP rs7304782 at schizophrenia risk locus 12q24.31 and validation of its association with schiz ophrenia in Chinese populations. | Ma C et al. | β | 2020 | β |
| Identifying blood pressure loci whose effects are modulated by multiple lifestyle exposures. | Osazuwa-Peters OL et al. | β | 2020 | β |
| IKBKB rs2272736 is Associated with Gastric Cancer Survival. | Gong Y 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 |
| 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 genetic polymorphisms in kinetochore and spindle assembly genes on chromosomal aberration frequency in healthy humans. | Niazi Y 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 |
| Integrative analyses prioritize GNL3 as a risk gene for bipolar disorder. | Meng Q et al. | β | 2020 | β |
| Intronic variation of the SOHLH2 gene confers risk to male reproductive impairment. | CervΓ‘n-MartΓn M 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 |
| <i>SCUBE3</i> Is Likely a Susceptibility Gene for Systemic Lupus Erythematosus for Chinese Populations. | Qi YY et al. | β | 2020 | β |
| Learning gene networks underlying clinical phenotypes using SNP perturbation. | McCarter C et al. | β | 2020 | β |
| Long non-coding RNA MIR4300HG polymorphisms are associated with postoperative nausea and vomiting: a genome-wide association study. | Sugino S et al. | β | 2020 | β |
| <i>APOB</i> Genotypes and <i>CDH13</i> Haplotypes in the Cholesterol-Related Pathway Genes Predict Non-Small Cell Lung Cancer Survival. | Deng W 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 |
| MI-MAAP: marker informativeness for multi-ancestry admixed populations. | Chen S et al. | β | 2020 | β |
| Multiomics dissection of molecular regulatory mechanisms underlying autoimmune-associated noncoding SNPs. | Chen XF et al. | β | 2020 | β |
| Multi-trait Genome-Wide Analyses of the Brain Imaging Phenotypes in UK Biobank. | Wu C | β | 2020 | β |
| Novel association of genetic variants in non-coding regulatory regions with HIV-1 infection. | Waqar W et al. | β | 2020 | β |
| Novel genetic variants of <i>KIR3DL2</i> and <i>PVR</i> involved in immunoregulatory interactions are associated with non-small cell lung cancer survival. | Wu Y et al. | β | 2020 | β |
| Novel Variants of <i>ELP2</i> and <i>PIAS1</i> in the Interferon Gamma Signaling Pathway Are Associated with Non-Small Cell Lung Cancer Survival. | Zhao YC et al. | β | 2020 | β |
| Pleiotropic Locus 15q24.1 Reveals a Gender-Specific Association with Neovascular but Not Atrophic Age-Related Macular Degeneration (AMD). | Kiel C et al. | β | 2020 | β |
| Polo-like kinase 4 and Stromal antigen 3 are not associated with recurrent pregnancy loss caused by embryonic aneuploidy. | Yoshihara H 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 |
| Prediction of genome-wide effects of single nucleotide variants on transcription factor binding. | Carrasco Pro S et al. | β | 2020 | β |
| Rare variant association testing in the non-coding genome. | Bocher O et al. | β | 2020 | β |
| Regulation of inflammation in diabetes: From genetics to epigenomics evidence. | Diedisheim M et al. | β | 2020 | β |
| Role of Systemic Lupus Erythematosus Risk Variants With Opposing Functional Effects as a Driver of Hypomorphic Expression of TNIP1 and Other Genes Within a Three-Dimensional Chromatin Network. | Pasula S et al. | β | 2020 | β |
| SARS-CoV-2 (COVID-19) structural and evolutionary dynamicome: Insights into functional evolution and human genomics. | Gupta R et al. | β | 2020 | β |
| Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. | Dong J et al. | β | 2020 | β |
| Shared Genetic Loci Between Body Mass Index and Major Psychiatric Disorders: A Genome-wide Association Study. | Bahrami S 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 |
| The association between Single Nucleotide Polymorphisms of Klotho Gene and Mortality in Elderly Men: The MrOS Sweden Study. | Wu PH et al. | β | 2020 | β |
| The genetic architecture of human brainstem structures and their involvement in common brain disorders. | ElvsΓ₯shagen T 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 open targets post-GWAS analysis pipeline. | Peat G et al. | β | 2020 | β |
| Transcriptome-wide association study for persistent hepatitis B virus infection and related hepatocellular carcinoma. | Han J 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 |
| Using functional genomics to advance the understanding of psoriatic arthritis. | Shi C et al. | β | 2020 | β |
| Whole-Genome Sequencing Identifies Novel Functional Loci Associated with Lung Function in Puerto Rican Youth. | Lee EY et al. | β | 2020 | β |