Potential etiologic and functional implications of genome-wide association loci for human diseases and traits.
paper
Cited
Public
Unavailable
- Authors
- Hindorff, Lucia A; Sethupathy, Praveen; Junkins, Heather A; Ramos, Erin M; Mehta, Jayashri P; Collins, Francis S; Manolio, Teri A
- Year
- 2009
- Journal
- Proceedings of the National Academy of Sciences of the United States of America
- PMID
- 19474294
- DOI
- 10.1073/pnas.0903103106
- PMCID
- PMC2687147
We have developed an online catalog of SNP-trait associations from published genome-wide association studies for use in investigating genomic characteristics of trait/disease-associated SNPs (TASs). Reported TASs were common [median risk allele frequency 36%, interquartile range (IQR) 21%-53%] and were associated with modest effect sizes [median odds ratio (OR) 1.33, IQR 1.20-1.61]. Among 20 genomic annotation sets, reported TASs were significantly overrepresented only in nonsynonymous sites [OR = 3.9 (2.2-7.0), p = 3.5 x 10(-7)] and 5kb-promoter regions [OR = 2.3 (1.5-3.6), p = 3 x 10(-4)] compared to SNPs randomly selected from genotyping arrays. Although 88% of TASs were intronic (45%) or intergenic (43%), TASs were not overrepresented in introns and were significantly depleted in intergenic regions [OR = 0.44 (0.34-0.58), p = 2.0 x 10(-9)]. Only slightly more TASs than expected by chance were predicted to be in regions under positive selection [OR = 1.3 (0.8-2.1), p = 0.2]. This new online resource, together with bioinformatic predictions of the underlying functionality at trait/disease-associated loci, is well-suited to guide future investigations of the role of common variants in complex disease etiology.
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| Non-coding rare variant associations with blood traits on 166 740 UK Biobank genomes | Ribeiro DM et al. | β | 2023 | β |
| Noncoding RNA mutations in cancer. | Zhou H et al. | β | 2023 | β |
| Noncoding SNP at rs1663689 represses ADGRG6 via interchromosomal interaction and reduces lung cancer progression. | Lei X et al. | β | 2023 | β |
| Nutraceuticals in the Treatment of Inflammatory Bowel Disease: How the Panorama has Changed in the Last Decade? | Smeriglio A et al. | β | 2023 | β |
| Opposing effects of genetic variation in MTCH2 for obesity versus heart failure. | Fischer JA et al. | β | 2023 | β |
| Optimized high-throughput screening of non-coding variants identified from genome-wide association studies. | Morova T et al. | β | 2023 | β |
| Perceived Parental Support and Psychological Control, DNA Methylation, and Loneliness: Longitudinal Associations Across Early Adolescence. | Koopmans Y et al. | β | 2023 | β |
| Pharmacogenomics: Driving Personalized Medicine. | Sadee W et al. | β | 2023 | β |
| Polygenic risk scores for cervical HPV infection, neoplasia and cancer show potential for personalised screening: comparison of two methods. | Tisler A et al. | β | 2023 | β |
| Population-Based Impact of Smoking, Drinking, and Genetic Factors on HDL-cholesterol Levels in J-MICC Study Participants. | Nindita Y et al. | β | 2023 | β |
| Prenatal diagnosis of recurrent hypoplastic left heart syndrome associated with MYH6 variants: a case report. | Najib B et al. | β | 2023 | β |
| Prioritization of genes associated with type 2 diabetes mellitus for functional studies. | Tan WX et al. | β | 2023 | β |
| Priors, population sizes, and power in genome-wide hypothesis tests. | Cai J et al. | β | 2023 | β |
| Role of Long Intergenic Noncoding RNAs in Cancers with an Overview of MicroRNA Binding. | Pasieka R et al. | β | 2023 | β |
| Similarity and diversity of genetic architecture for complex traits between East Asian and European populations. | Zhang J et al. | β | 2023 | β |
| Soft repression and chromatin modification by conserved transcriptional corepressors. | Arnosti DN | β | 2023 | β |
| Somatic variant detection from multi-sampled genomic sequencing data of tumor specimens using the ith.Variant pipeline. | Maeser N et al. | β | 2023 | β |
| Structure-activity relationships andz interindividual variability of drug responses: pharmacogenomics with antimicrobial drugs as a paradigm. | Thabet RH et al. | β | 2023 | β |
| Study of the relationship between occurrence of Kawasaki disease and air pollution in Chengdu by parametric and semi-parametric models. | Si F et al. | β | 2023 | β |
| Systematic design and data-driven evaluation of social determinants of health ontology (SDoHO). | Dang Y et al. | β | 2023 | β |
| The EN-TEx resource of multi-tissue personal epigenomesΒ & variant-impact models. | Rozowsky J et al. | β | 2023 | β |
| Toward a comprehensive catalog of regulatory elements. | Fan K et al. | β | 2023 | β |
| Transcriptome-wide association study-derived genes as potential visceral adipose tissue-specific targets for type 2 diabetes. | Tang H et al. | β | 2023 | β |
| Translating non-coding genetic associations into a better understanding of immune-mediated disease. | Stankey CT et al. | β | 2023 | β |
| twas_sim, a Python-based tool for simulation and power analysis of transcriptome-wide association analysis. | Wang X et al. | β | 2023 | β |
| Underlying causes for prevalent false positives and false negatives in STARR-seq data. | Ni P 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 |
| Variation in histone configurations correlates with gene expression across nine inbred strains of mice. | Tyler AL et al. | β | 2023 | β |
| 3D genome organization, genetic variation and disease. | O'Sullivan JM et al. | β | 2022 | β |
| AAV Deployment of Enhancer-Based Expression Constructs In Vivo in Mouse Brain. | Warren TL et al. | β | 2022 | β |
| A common variant in 11q23.3 associated with hyperlipidemia is mediated by the binding and regulation of GATA4. | Chou WC et al. | β | 2022 | β |
| Advancing human disease research with fish evolutionary mutant models. | Beck EA et al. | β | 2022 | β |
| A Final Frontier in Environment-Genome Interactions? Integrated, Multi-Omic Approaches to Predictions of Non-Communicable Disease Risk. | Noble AJ et al. | β | 2022 | β |
| A functional mutation associated with piglet diarrhea partially by regulating the transcription of porcine <i>STAT3</i>. | Chen Z 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 leukemia-protective germline variant mediates chromatin module formation via transcription factor nucleation. | Llimos G et al. | β | 2022 | β |
| Alternatively Spliced Isoforms of the P2X7 Receptor: Structure, Function and Disease Associations. | De Salis SKF et al. | β | 2022 | β |
| A map of cis-regulatory modules and constituent transcription factor binding sites in 80% of the mouse genome. | Ni P et al. | β | 2022 | β |
| An Osteoporosis Susceptibility Allele at 11p15 Regulates SOX6 Expression by Modulating TCF4 Chromatin Binding. | Zhu DL et al. | β | 2022 | β |
| A Review of Feature Selection Methods for Machine Learning-Based Disease Risk Prediction. | Pudjihartono N et al. | β | 2022 | β |
| A scalable Bayesian functional GWAS method accounting for multivariate quantitative functional annotations with applications for studying Alzheimer disease. | Chen J et al. | β | 2022 | β |
| Assessment of a polygenic hazard score for the onset of pre-clinical Alzheimer's disease. | Vacher M et al. | β | 2022 | β |
| A systematic comparison of FOSL1, FOSL2 and BATF-mediated transcriptional regulation during early human Th17 differentiation. | Shetty A et al. | β | 2022 | β |
| A transcriptome-wide association study provides new insights into the etiology of osteoarthritis. | Wang W et al. | β | 2022 | β |
| Bioinformatic approach for the discovery of cis-eQTL signals during fruit ripening of a woody species as grape (Vitis vinifera L.). | MartΓnez-GarcΓa PJ et al. | β | 2022 | β |
| Bridging between Mouse and Human Enhancer-Promoter Long-Range Interactions in Neural Stem Cells, to Understand Enhancer Function in Neurodevelopmental Disease. | D'Aurizio R et al. | β | 2022 | β |
| Ca<sup>2+</sup> Signaling Augmented by ORAI1 Trafficking Regulates the Pathogenic State of Effector T Cells. | Wu B et al. | β | 2022 | β |
| cLoops2: a full-stack comprehensive analytical tool for chromatin interactions. | Cao Y et al. | β | 2022 | β |
| CLSTN3 gene variant associates with obesity risk and contributes to dysfunction in white adipose tissue. | Bai N et al. | β | 2022 | β |
| Cognitive Capacity Genome-Wide Polygenic Scores Identify Individuals with Slower Cognitive Decline in Aging. | Joo YY et al. | β | 2022 | β |
| Combining SNP-to-gene linking strategies to identify disease genes and assess disease omnigenicity. | Gazal S et al. | β | 2022 | β |
| Common genetic variants do not predict recurrent events in coronary heart disease patients. | Thompson PL et al. | β | 2022 | β |
| Complex regulation of Gephyrin splicing is a determinant of inhibitory postsynaptic diversity. | Dos Reis R et al. | β | 2022 | β |
| Comprehensive enhancer-target gene assignments improve gene set level interpretation of genome-wide regulatory data. | Qin T et al. | β | 2022 | β |
| Context-dependant enhancers as a reservoir of functional polymorphisms and epigenetic markers linked to alcohol use disorders and comorbidities. | MacKenzie A et al. | β | 2022 | β |
| CRISPR Screens to Identify Regulators of Tumor Immunity. | LaFleur MW et al. | β | 2022 | β |
| DeepPerVar: a multi-modal deep learning framework for functional interpretation of genetic variants in personal genome. | Wang Y et al. | β | 2022 | β |
| Detecting associated genes for complex traits shared across East Asian and European populations under the framework of composite null hypothesis testing. | Qiao J et al. | β | 2022 | β |
| Differential gene expression orchestrated by transcription factors in osteoporosis: bioinformatics analysis of associated polymorphism elaborating functional relationships. | Wang CC et al. | β | 2022 | β |
| Diverse environmental perturbations reveal the evolution and context-dependency of genetic effects on gene expression levels. | Lea AJ et al. | β | 2022 | β |
| Diverse selection pressures shaping the genetic architecture of behΓ§et disease susceptibility. | Sezgin E et al. | β | 2022 | β |
| Donor-Recipient Non-HLA Variants, Mismatches and Renal Allograft Outcomes: Evolving Paradigms. | Jethwani P et al. | β | 2022 | β |
| Editorial: Coding and non-coding RNA-based complexes in organismal development and disease pathogenesis. | Chartrand P et al. | β | 2022 | β |
| Emerging roles of RNA-RNA interactions in transcriptional regulation. | Wang D et al. | β | 2022 | β |
| Enhancer RNAs step forward: new insights into enhancer function. | Harrison LJ et al. | β | 2022 | β |
| Exogenous Chemical Exposure Increased Transcription Levels of the Host Virus Receptor Involving Coronavirus Infection. | Jin X et al. | β | 2022 | β |
| Exploration of Tools for the Interpretation of Human Non-Coding Variants. | Tabarini N et al. | β | 2022 | β |
| Functional annotation of breast cancer risk loci: current progress and future directions. | Romualdo Cardoso S et al. | β | 2022 | β |
| Functional Implications of Intergenic GWAS SNPs in Immune-Related LncRNAs. | Castellanos-Rubio A et al. | β | 2022 | β |
| Functional noncoding SNPs in human endothelial cells fine-map vascular trait associations. | Toropainen A et al. | β | 2022 | β |
| Gene-Interaction-Sensitive enrichment analysis in congenital heart disease. | Woodward AA et al. | β | 2022 | β |
| Genetic heterogeneity: Challenges, impacts, and methods through an associative lens. | Woodward AA et al. | β | 2022 | β |
| Genome-wide association mapping of ethanol sensitivity in the Diversity Outbred mouse population. | Parker CC et al. | β | 2022 | β |
| Genome-wide association study for vascular aging highlights pathways shared with cardiovascular traits in Koreans. | Ahn J et al. | β | 2022 | β |
| Genome-Wide Associative Study of Phenotypic Parameters of the 3D Body Model of Aberdeen Angus Cattle with Multiple Depth Cameras. | Ruchay A et al. | β | 2022 | β |
| GREEN-DB: a framework for the annotation and prioritization of non-coding regulatory variants from whole-genome sequencing data. | Giacopuzzi E et al. | β | 2022 | β |
| Haplotype-specific chromatin looping reveals genetic interactions of regulatory regions modulating gene expression in 8p23.1. | Saint Just Ribeiro M et al. | β | 2022 | β |
| Identification of Cardiovascular Disease-Related Genes Based on the Co-Expression Network Analysis of Genome-Wide Blood Transcriptome. | Lee T et al. | β | 2022 | β |
| Identification of transcriptional regulatory variants in pig duodenum, liver, and muscle tissues. | Crespo-Piazuelo D et al. | β | 2022 | β |
| Impact of Genetic Variants of Long Noncoding RNA <i>Metastasis-Associated Lung Adenocarcinoma Transcript 1</i> on Uterine Cervical Cancer. | Sun YH et al. | β | 2022 | β |
| Impact of the Exposome on the Epigenome in Inflammatory Bowel Disease Patients and Animal Models. | Vieujean S et al. | β | 2022 | β |
| Incorporating regulatory interactions into gene-set analyses for GWAS data: A controlled analysis with the MAGMA tool. | Groenewoud D et al. | β | 2022 | β |
| Inferring regulatory element landscapes and gene regulatory networks from integrated analysis in eight hulless barley varieties under abiotic stress. | Xu Q et al. | β | 2022 | β |
| In rheumatoid arthritis inflamed joints share dominant patient-specific B-cell clones. | Musters A et al. | β | 2022 | β |
| Integrated analysis of miRNAs and mRNA profiling reveals the potential roles of miRNAs in sheep hair follicle development. | He J et al. | β | 2022 | β |
| Interpreting coronary artery disease GWAS results: A functional genomics approach assessing biological significance. | Hartmann K et al. | β | 2022 | β |
| LncRNAs at the heart of development and disease. | Anderson KM et al. | β | 2022 | β |
| Massively parallel identification of functionally consequential noncoding genetic variants in undiagnosed rare disease patients. | McQuerry JA et al. | β | 2022 | β |
| Maximal Information Coefficient-Based Testing to Identify Epistasis in Case-Control Association Studies. | Guo Y et al. | β | 2022 | β |
| Molecular Quantitative Trait Locus Mapping in Human Complex Diseases. | Olayinka OA et al. | β | 2022 | β |
| Myogenesis controlled by a long non-coding RNA 1700113A16RIK and post-transcriptional regulation. | Fu X et al. | β | 2022 | β |
| Novel diabetes gene discovery through comprehensive characterization and integrative analysis of longitudinal gene expression changes. | Chen HH et al. | β | 2022 | β |
| PCRMS: a database of predicted cis-regulatory modules and constituent transcription factor binding sites in genomes. | Ni P et al. | β | 2022 | β |
| PGAGP: Predicting pathogenic genes based on adaptive network embedding algorithm. | Zhang Y et al. | β | 2022 | β |
| Polymorphism of coupled indels in porcine TNNC2 alters its transcript splicing and is associated with meat quality traits. | Ma T et al. | β | 2022 | β |
| Predicting Health Risks of Adult Asthmatics Susceptible to Indoor Air Quality Using Improved Logistic and Quantile Regression Models. | Bae WD et al. | β | 2022 | β |
| Profiling the quantitative occupancy of myriad transcription factors across conditions by modeling chromatin accessibility data. | Luo K et al. | β | 2022 | β |
| pyPheWAS: A Phenome-Disease Association Tool for Electronic Medical Record Analysis. | Kerley CI et al. | β | 2022 | β |
| Quality Control Procedures for Genome-Wide Association Studies. | Truong VQ et al. | β | 2022 | β |
| Restricted maximum-likelihood method for learning latent variance components in gene expression data with known and unknown confounders. | Malik MA et al. | β | 2022 | β |
| RNA-RNA interactions between SARS-CoV-2 and host benefit viral development and evolution during COVID-19 infection. | Zhang S et al. | β | 2022 | β |
| Scalable approaches for functional analyses of whole-genome sequencing non-coding variants. | Kuksa PP et al. | β | 2022 | β |
| Sex-specific placental gene expression signatures of small for gestational age at birth. | Chatterjee S et al. | β | 2022 | β |
| Single-cell eQTL mapping identifies cell type-specific genetic control of autoimmune disease. | Yazar S et al. | β | 2022 | β |
| Small Effects: The Indispensable Foundation for a Cumulative Psychological Science. | GΓΆtz FM et al. | β | 2022 | β |
| SNPs in 3'UTR miRNA Target Sequences Associated with Individual Drug Susceptibility. | Rykova E et al. | β | 2022 | β |
| The contribution of evolutionarily volatile promoters to molecular phenotypes and human trait variation. | Young RS et al. | β | 2022 | β |
| The Current State of Genetic Testing Platforms for Inherited Retinal Diseases. | Mustafi D et al. | β | 2022 | β |
| The effect of SNPs in lncRNA as ceRNA on the risk and prognosis of hepatocellular carcinoma. | Mo H et al. | β | 2022 | β |
| The Emerging Roles of Long Non-Coding RNAs in Intellectual Disability and Related Neurodevelopmental Disorders. | Liaci C et al. | β | 2022 | β |
| The genetic aetiology of cannabis use: from twin models to genome-wide association studies and beyond. | Verweij KJH et al. | β | 2022 | β |
| The Role of Genetic Testing in Pulmonary Fibrosis: A Perspective From the Pulmonary Fibrosis Foundation Genetic Testing Work Group. | Newton CA et al. | β | 2022 | β |
| The viral and inflammation hypothesis of epileptic seizures based on bioinformatic study of circulating miRNAs and peripheral whole-blood mRNAs of adult epilepsy patients. | Wu J et al. | β | 2022 | β |
| Towards key scientific questions in the diagnosis and treatment of rare diseases: Summary from the 297th Meeting of the Shuangqing Forum. | Zhu CY et al. | β | 2022 | β |
| Understanding the function of regulatory DNA interactions in the interpretation of non-coding GWAS variants. | Zhong W et al. | β | 2022 | β |
| Universal annotation of the human genome through integration of over a thousand epigenomic datasets. | Vu H et al. | β | 2022 | β |
| Variations within Toll-like receptor (TLR) and TLR signaling pathway-related genes and their synergistic effects on the risk of Guillain-BarrΓ© syndrome. | Dutta D et al. | β | 2022 | β |
| ABC-F translation factors: from antibiotic resistance to immune response. | Fostier CR et al. | β | 2021 | β |
| A catalog of GWAS fine-mapping efforts in autoimmune disease. | Caliskan M et al. | β | 2021 | β |
| Accurate prediction of <i>cis</i>-regulatory modules reveals a prevalent regulatory genome of humans. | Ni P et al. | β | 2021 | β |
| A comprehensive gene-centric pleiotropic association analysis for 14 psychiatric disorders with GWAS summary statistics. | Lu H 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 COVARIANCE-ENHANCED APPROACH TO MULTI-TISSUE JOINT EQTL MAPPING WITH APPLICATION TO TRANSCRIPTOME-WIDE ASSOCIATION STUDIES. | Molstad AJ et al. | β | 2021 | β |
| A DNA Regulatory Element Haplotype at Zinc Finger Genes Is Associated with Host Resilience to Small Ruminant Lentivirus in Two Sheep Populations. | Massa AT et al. | β | 2021 | β |
| Advances and challenges in quantitative delineation of the genetic architecture of complex traits. | Tang H et al. | β | 2021 | β |
| Advances in Genomic Discovery and Implications for Personalized Prevention and Medicine: Estonia as Example. | Prins BP et al. | β | 2021 | β |
| An atlas of CNV maps in cattle, goat and sheep. | Huang Y et al. | β | 2021 | β |
| An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci. | Mountjoy E et al. | β | 2021 | β |
| A Regulatory Role of Chemokine Receptor CXCR3 in the Pathogenesis of Chronic Obstructive Pulmonary Disease and Emphysema. | Li L et al. | β | 2021 | β |
| A regulatory variant at 3q21.1 confers an increased pleiotropic risk for hyperglycemia and altered bone mineral density. | Sinnott-Armstrong N et al. | β | 2021 | β |
| A semi-supervised deep learning approach for predicting the functional effects of genomic non-coding variations. | Jia H et al. | β | 2021 | β |
| Associations of polycyclic aromatic hydrocarbons exposure and its interaction with XRCC1 genetic polymorphism with lung cancer: A case-control study. | Zhou S et al. | β | 2021 | β |
| A systematic analysis of protein-altering exonic variants in chronic obstructive pulmonary disease. | Moll M et al. | β | 2021 | β |
| A systematic comparison of normalization methods for eQTL analysis. | Yang J et al. | β | 2021 | β |
| A TNXB splice donor site variant as a cause of hypermobility type Ehlers-Danlos syndrome in patients with congenital adrenal hyperplasia. | Lao Q et al. | β | 2021 | β |
| A transcriptome-wide association study identifies novel susceptibility genes for psoriasis. | Zhu D et al. | β | 2021 | β |
| A transcriptome-wide association study identifies susceptibility genes for Parkinson's disease. | Yao S et al. | β | 2021 | β |
| Battle for supremacy: nucleic acid interactions between viruses and cells. | Hennessy EJ et al. | β | 2021 | β |
| Bench-to-Bedside in Vascular Medicine: Optimizing the Translational Pipeline for Patients With Peripheral Artery Disease. | Alsaigh T et al. | β | 2021 | β |
| Bottleneck-associated changes in the genomic landscape of genetic diversity in wild lynx populations. | Lucena-Perez M et al. | β | 2021 | β |
| CancerImmunityQTL: a database to systematically evaluate the impact of genetic variants on immune infiltration in human cancer. | Tian J et al. | β | 2021 | β |
| Cascading epigenomic analysis for identifying disease genes from the regulatory landscape of GWAS variants. | Ng B et al. | β | 2021 | β |
| CircRNAs as promising biomarkers of inflammatory bowel disease and its associated-colorectal cancer. | Xu Y et al. | β | 2021 | β |
| Comprehensive functional annotation of susceptibility variants identifies genetic heterogeneity between lung adenocarcinoma and squamous cell carcinoma. | Qin N 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 |
| Comprehensive transcriptome and methylome analysis delineates the biological basis of hair follicle development and wool-related traits in Merino sheep. | Zhao B et al. | β | 2021 | β |
| ConceptWAS: A high-throughput method for early identification of COVID-19 presenting symptoms and characteristics from clinical notes. | Zhao J et al. | β | 2021 | β |
| Conserved regulatory logic at accessible and inaccessible chromatin during the acute inflammatory response in mammals. | Alizada A et al. | β | 2021 | β |
| CoRE-ATAC: A deep learning model for the functional classification of regulatory elements from single cell and bulk ATAC-seq data. | Thibodeau A et al. | β | 2021 | β |
| CpGmotifs: a tool to discover DNA motifs associated to CpG methylation events. | Scala G et al. | β | 2021 | β |
| Decoding the Equine Genome: Lessons from ENCODE. | Peng S et al. | β | 2021 | β |
| DeepFun: a deep learning sequence-based model to decipher non-coding variant effect in a tissue- and cell type-specific manner. | Pei G et al. | β | 2021 | β |
| Detection of Genetic Overlap Between Rheumatoid Arthritis and Systemic Lupus Erythematosus Using GWAS Summary Statistics. | Lu H et al. | β | 2021 | β |
| Distinct genetic regions are associated with differential population susceptibility to chemical exposures. | Kosnik MB et al. | β | 2021 | β |
| Dynamic landscape of chromatin accessibility and transcriptomic changes during differentiation of human embryonic stem cells into dopaminergic neurons. | MelΓ©ndez-RamΓrez C et al. | β | 2021 | β |
| Dysregulation of chromatin organization in pediatric and adult brain tumors: oncoepigenomic contributions to tumorigenesis and cancer stem cell properties. | Paik S et al. | β | 2021 | β |
| Editorial: Advances in Genomics of Crossbred Farm Animals. | Wu XL et al. | β | 2021 | β |
| Enhancer polymorphisms at the IKZF1 susceptibility locus for acute lymphoblastic leukemia impact B-cell proliferation and differentiation in both Down syndrome and non-Down syndrome genetic backgrounds. | Gant VU et al. | β | 2021 | β |
| 'Enhancing' red cell fate through epigenetic mechanisms. | Rossmann MP et al. | β | 2021 | β |
| Epigenetic Element-Based Transcriptome-Wide Association Study Identifies Novel Genes for Bipolar Disorder. | Yao S et al. | β | 2021 | β |
| Epstein-Barr virus nuclear antigen 2 extensively rewires the human chromatin landscape at autoimmune risk loci. | Hong T et al. | β | 2021 | β |
| Estimating genetic nurture with summary statistics of multigenerational genome-wide association studies. | Wu Y et al. | β | 2021 | β |
| Ethanol-Related Behaviors in Mouse Lines Selectively Bred for Drinking to Intoxication. | Jensen BE et al. | β | 2021 | β |
| Evaluating the Effect of 3'-UTR Variants in <i>DICER1</i> and <i>DROSHA</i> on Their Tissue-Specific Expression by miRNA Target Prediction. | Bug DS et al. | β | 2021 | β |
| Evaluation of Genotype-Based Gene Expression Model Performance: A Cross-Framework and Cross-Dataset Study. | Tavares V et al. | β | 2021 | β |
| Few Fixed Variants between Trophic Specialist Pupfish Species Reveal Candidate Cis-Regulatory Alleles Underlying Rapid Craniofacial Divergence. | McGirr JA et al. | β | 2021 | β |
| Functional annotations of three domestic animal genomes provide vital resources for comparative and agricultural research. | Kern C et al. | β | 2021 | β |
| Functional Genomic Analysis of a RUNX3 Polymorphism Associated With Ankylosing Spondylitis. | Vecellio M 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-Based Testing of Interactions Using XGBoost in Genome-Wide Association Studies. | Guo Y et al. | β | 2021 | β |
| Gene-Environment Interactions Relevant to Estrogen and Risk of Breast Cancer: Can Gene-Environment Interactions Be Detected Only among Candidate SNPs from Genome-Wide Association Studies? | Park J 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 |
| Genes in human obesity loci are causal obesity genes in C. elegans. | Ke W et al. | β | 2021 | β |
| Genetic and in utero environmental contributions to DNA methylation variation in placenta. | Chatterjee S et al. | β | 2021 | β |
| Genetic architecture of autism spectrum disorder: Lessons from large-scale genomic studies. | Choi L et al. | β | 2021 | β |
| Genetic Epidemiology of Complex Phenotypes. | O'Rielly DD et al. | β | 2021 | β |
| Genetic Pathways and Functional Subnetworks for the Complex Nature of Bipolar Disorder in Genome-Wide Association Study. | Kuo CY et al. | β | 2021 | β |
| Genetic Predisposition to the Mortality in Septic Shock Patients: From GWAS to the Identification of a Regulatory Variant Modulating the Activity of a <i>CISH</i> Enhancer. | Rosier F et al. | β | 2021 | β |
| Genetic Variants in Transcription Factor Binding Sites in Humans: Triggered by Natural Selection and Triggers of Diseases. | Tseng CC et al. | β | 2021 | β |
| Genome editing to define the function of risk loci and variants in rheumatic disease. | Baglaenko Y et al. | β | 2021 | β |
| Genome-Wide Identification of Rare and Common Variants Driving Triglyceride Levels in a Nevada Population. | Read RW et al. | β | 2021 | β |
| Genome-wide landscape establishes novel association signals for metabolic traits in the Arab population. | Hebbar P et al. | β | 2021 | β |
| Germ line polymorphisms of genes involved in pluripotency transcription factors predict efficacy of cetuximab in metastatic colorectal cancer. | Arai H et al. | β | 2021 | β |
| Heritable Variants in the Chromosome <i>1q22</i> Locus Increase Gastric Cancer Risk via Altered Chromatin Looping and Increased UBAP2L Expression. | Guan W et al. | β | 2021 | β |
| Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage. | Chen Z et al. | β | 2021 | β |
| Identification of low-frequency variants of UGT1A3 associated with bladder cancer risk by next-generation sequencing. | Zheng R et al. | β | 2021 | β |
| Identification of LZTFL1 as a candidate effector gene at a COVID-19 risk locus. | Downes DJ et al. | β | 2021 | β |
| <i>ITGB5</i> mutation discovered in a Chinese family with blepharophimosis-ptosis-epicanthus inversus syndrome. | Cheng T et al. | β | 2021 | β |
| Integrating genomics and transcriptomics: Towards deciphering ADHD. | Pujol-Gualdo N et al. | β | 2021 | β |
| Integration of summary data from GWAS and eQTL studies identified novel risk genes for coronary artery disease. | Zhong Y et al. | β | 2021 | β |
| Integrative analysis identifies bHLH transcription factors as contributors to Parkinson's disease risk mechanisms. | Berge-Seidl V et al. | β | 2021 | β |
| Integrative analysis of liver-specific non-coding regulatory SNPs associated with the risk of coronary artery disease. | Selvarajan I et al. | β | 2021 | β |
| Integrative eQTL-weighted hierarchical Cox models for SNP-set based time-to-event association studies. | Lu H et al. | β | 2021 | β |
| Integrative Functional Genomics Implicated the Key T-/B-Cell Deficiency Regulator <i>RAG1</i> in Transarterial Chemoembolization of Hepatocellular Carcinoma. | Xu Y et al. | β | 2021 | β |
| Interpretation of allele-specific chromatin accessibility using cell state-aware deep learning. | Atak ZK et al. | β | 2021 | β |
| Investigation of LINC00493/SMIM26 Gene Suggests Its Dual Functioning at mRNA and Protein Level. | Konina D et al. | β | 2021 | β |
| <i>Parathyroid Hormone</i> Gene and Genes Involved in the Maintenance of Vitamin D Levels Association with Mandibular Retrognathism. | KΓΌchler EC et al. | β | 2021 | β |
| LncAS2Cancer: a comprehensive database for alternative splicing of lncRNAs across human cancers. | Deng Y et al. | β | 2021 | β |
| Lossless integration of multiple electronic health records for identifying pleiotropy using summary statistics. | Li R et al. | β | 2021 | β |
| Master lineage transcription factors anchor trans mega transcriptional complexes at highly accessible enhancer sites to promote long-range chromatin clustering and transcription of distal target genes. | White SM et al. | β | 2021 | β |
| Mechanisms Underlying the Comorbidity of Schizophrenia and Type 2 Diabetes Mellitus. | Mizuki Y et al. | β | 2021 | β |
| Minor Intron Splicing from Basic Science to Disease. | El Marabti E et al. | β | 2021 | β |
| MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. | Zhan J et al. | β | 2021 | β |
| MLIP genotype as a predictor of pharmacological response in primary open-angle glaucoma and ocular hypertension. | Canut MI et al. | β | 2021 | β |
| Molecular genetics of substance use disorders: An umbrella review. | Lopez-Leon S et al. | β | 2021 | β |
| Multi-omics analyses of cognitive traits and psychiatric disorders highlights brain-dependent mechanisms. | Korologou-Linden R et al. | β | 2021 | β |
| Multi-tissue transcriptome-wide association studies. | Grinberg NF et al. | β | 2021 | β |
| Neuroimaging PheWAS (Phenome-Wide Association Study): A Free Cloud-Computing Platform for Big-Data, Brain-Wide Imaging Association Studies. | Zhao L et al. | β | 2021 | β |
| New biomarkers from multiomics approaches: improving risk prediction of atrial fibrillation. | Kornej J et al. | β | 2021 | β |
| NKD2 mediates stimulation-dependent ORAI1 trafficking to augment Ca<sup>2+</sup> entry in TΒ cells. | Wu B et al. | β | 2021 | β |
| Noncoding RNAs in tumor metastasis: molecular and clinical perspectives. | Liu QL et al. | β | 2021 | β |
| Novel insights in the genetics of steroid-sensitive nephrotic syndrome in childhood. | Dufek-Kamperis S et al. | β | 2021 | β |
| Pathway Association Studies Reveal Gene Loci and Pathway Networks that Associated With Plasma Cystatin C Levels. | Jiao H et al. | β | 2021 | β |
| Polygenic Risk Scores for Kidney Function and Their Associations with Circulating Proteome, and Incident Kidney Diseases. | Yu Z et al. | β | 2021 | β |
| Predicting regulatory variants using a dense epigenomic mapped CNN model elucidated the molecular basis of trait-tissue associations. | Pei G et al. | β | 2021 | β |
| Prediction of disease-associated functional variants in noncoding regions through a comprehensive analysis by integrating datasets and features. | Lu Y et al. | β | 2021 | β |
| Prevalence of cancer susceptibility variants in patients with multiple Lynch syndrome related cancers. | Choi YY et al. | β | 2021 | β |
| Prioritizing non-coding regions based on human genomic constraint and sequence context with deep learning. | Vitsios D et al. | β | 2021 | β |
| Rare variants regulate expression of nearby individual genes in multiple tissues. | Li J et al. | β | 2021 | β |
| RNA regulatory mechanisms that control antiviral innate immunity. | Gokhale NS et al. | β | 2021 | β |
| Schizophrenia risk alleles often affect the expression of many genes and each gene may have a different effect on the risk: A mediation analysis. | Peng X et al. | β | 2021 | β |
| Seeing the forest through the trees: prioritising potentially functional interactions from Hi-C. | Liu N et al. | β | 2021 | β |
| Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci. | Γrd T et al. | β | 2021 | β |
| SPADIS: An Algorithm for Selecting Predictive and Diverse SNPs in GWAS. | Yilmaz S et al. | β | 2021 | β |
| Statistical methods for mediation analysis in the era of high-throughput genomics: Current successes and future challenges. | Zeng P et al. | β | 2021 | β |
| Tackling microbial threats in agriculture with integrative imaging and computational approaches. | Singh NK et al. | β | 2021 | β |
| Testing Gene-Gene Interactions Based on a Neighborhood Perspective in Genome-wide Association Studies. | Guo Y et al. | β | 2021 | β |
| The EpiDiverse Plant Epigenome-Wide Association Studies (EWAS) Pipeline. | Can SN et al. | β | 2021 | β |
| The impact of cell type and context-dependent regulatory variants on human immune traits. | Mu Z et al. | β | 2021 | β |
| The Implications of ncRNAs in the Development of Human Diseases. | LΓ³pez-JimΓ©nez E et al. | β | 2021 | β |
| The landscape of long non-coding RNAs in tumor stroma. | Uddin MN et al. | β | 2021 | β |
| The non-coding genome in genetic brain disorders: new targets for therapy? | Medico-Salsench E et al. | β | 2021 | β |
| Therapeutic Modulation of RNA Splicing in Malignant and Non-Malignant Disease. | El Marabti E et al. | β | 2021 | β |
| The Role of SNP Interactions when Determining Independence of Novel Signals in Genetic Association Studies-An Application to <i>ARG1</i> and Bronchodilator Response. | Walsh R et al. | β | 2021 | β |
| The transcriptional trajectories of pluripotency and differentiation comprise genes with antithetical architecture and repetitive-element content. | Telonis AG et al. | β | 2021 | β |
| The USDA-ARS Ag100Pest Initiative: High-Quality Genome Assemblies for Agricultural Pest Arthropod Research. | Childers AK et al. | β | 2021 | β |
| Transcriptome-wide association study identifies multiple genes associated with childhood body mass index. | Yao S et al. | β | 2021 | β |
| Using bioinformatics approaches to investigate driver genes and identify BCL7A as a prognostic gene in colorectal cancer. | Chao JY et al. | β | 2021 | β |
| Advancing Pan-cancer Gene Expression Survial Analysis by Inclusion of Non-coding RNA. | Ye B et al. | β | 2020 | β |
| A framework for transcriptome-wide association studies in breast cancer in diverse study populations. | Bhattacharya A et al. | β | 2020 | β |
| A Gene-Set Enrichment and Protein-Protein Interaction Network-Based GWAS with Regulatory SNPs Identifies Candidate Genes and Pathways Associated with Carcass Traits in Hanwoo Cattle. | Srikanth K et al. | β | 2020 | β |
| A holistic view of mouse enhancer architectures reveals analogous pleiotropic effects and correlation with human disease. | Sethi S et al. | β | 2020 | β |
| Alcohol Sensitivity as an Endophenotype of Alcohol Use Disorder: Exploring Its Translational Utility between Rodents and Humans. | Parker CC et al. | β | 2020 | β |
| A method for estimating coherence of molecular mechanisms in major human disease and traits. | Dozmorov MG et al. | β | 2020 | β |
| Analysis of trait heritability in functionally partitioned rice genomes. | Wei J et al. | β | 2020 | β |
| Analyzing a putative enhancer of optic disc morphology. | Babenko V et al. | β | 2020 | β |
| An atlas of dynamic chromatin landscapes in mouse fetal development. | Gorkin DU et al. | β | 2020 | β |
| An intronic polymorphism of <i>NFATC1</i> gene shows a risk association with biopsy-proven acute rejection in renal transplant recipients. | Wang Z et al. | β | 2020 | β |
| AnnoLnc2: the one-stop portal to systematically annotate novel lncRNAs for human and mouse. | Ke L et al. | β | 2020 | β |
| Annotations capturing cell type-specific TF binding explain a large fraction of disease heritability. | van de Geijn B et al. | β | 2020 | β |
| A screen of 1,049 schizophrenia and 30 Alzheimer's-associated variants for regulatory potential. | Myint L et al. | β | 2020 | β |
| Assessing the Role of Long Noncoding RNA in Nucleus Accumbens in Subjects With Alcohol Dependence. | Drake J et al. | β | 2020 | β |
| Association between PTCH1 gene polymorphisms and chronic obstructive pulmonary disease susceptibility in a Chinese Han population: a case-control study. | Kang X et al. | β | 2020 | β |
| Association of long noncoding RNA MALAT1 polymorphisms with gastric cancer risk in Korean individuals. | Hong JH et al. | β | 2020 | β |
| Association of the Polymorphism rs13259960 in SLEAR With Predisposition to Systemic Lupus Erythematosus. | Fan Z et al. | β | 2020 | β |
| Bayesian modelling of high-throughput sequencing assays with malacoda. | Ghazi AR et al. | β | 2020 | β |
| Cancer LncRNA Census reveals evidence for deep functional conservation of long noncoding RNAs in tumorigenesis. | Carlevaro-Fita J et al. | β | 2020 | β |
| Cancer-specific expression quantitative loci are affected by expression dysregulation. | Sheng Q et al. | β | 2020 | β |
| Causal Estimation with Functional Confounders. | Puli A et al. | β | 2020 | β |
| cis-regulatory variation modulates susceptibility to enteric infection in the Drosophila genetic reference panel. | Frochaux MV et al. | β | 2020 | β |
| Clinical relevance of the lnc-HNF1B-3:1 genetic polymorphisms in Western Chinese tuberculosis patients. | Wu Q et al. | β | 2020 | β |
| Comprehensive functional annotation of susceptibility variants associated with asthma. | Gautam Y et al. | β | 2020 | β |
| Comprehensive genomic analysis of dietary habits in UK Biobank identifies hundreds of genetic associations. | Cole JB et al. | β | 2020 | β |
| Controllability analysis of molecular pathways points to proteins that control the entire interaction network. | Devkota P et al. | β | 2020 | β |
| Convergent functional genomics of cocaine misuse in humans and animal models. | Forero DA et al. | β | 2020 | β |
| Copy Number Variation of the <i>PIGY</i> Gene in Sheep and Its Association Analysis with Growth Traits. | Feng Z et al. | β | 2020 | β |
| Deconvolution of bulk blood eQTL effects into immune cell subpopulations. | Aguirre-Gamboa R et al. | β | 2020 | β |
| DeepC: predicting 3D genome folding using megabase-scale transfer learning. | Schwessinger R et al. | β | 2020 | β |
| Developing a FHIR-based Framework for Phenome Wide Association Studies: A Case Study with A Pan-Cancer Cohort. | Zong N et al. | β | 2020 | β |
| Discriminant Analysis of Lung Cancer Using Nonlinear Clustering of Copy Numbers. | Kachouie NN et al. | β | 2020 | β |
| Disease-Causing Mutations and Rearrangements in Long Non-coding RNA Gene Loci. | Aznaourova M et al. | β | 2020 | β |
| DNA Methylation: A Potential Biomarker of Chronic Obstructive Pulmonary Disease. | He LX et al. | β | 2020 | β |
| Do Genomic Factors Play a Role in Diabetic Retinopathy? | Cabrera AP et al. | β | 2020 | β |
| Donor-derived hypouricemia in irrelevant recipients caused by kidney transplantation. | Teng L et al. | β | 2020 | β |
| Effects of fish oil supplementation on glucose control and lipid levels among patients with type 2 diabetes mellitus: a Meta-analysis of randomized controlled trials. | Gao C et al. | β | 2020 | β |
| Effects of HTR1B 3' region polymorphisms and functional regions on gene expression regulation. | Xia X et al. | β | 2020 | β |
| Emerging Roles of RNA 3'-end Cleavage and Polyadenylation in Pathogenesis, Diagnosis and Therapy of Human Disorders. | Nourse J et al. | β | 2020 | β |
| Enhancer Domains Predict Gene Pathogenicity and Inform Gene Discovery in Complex Disease. | Wang X et al. | β | 2020 | β |
| Enhancer RNA: biogenesis, function, and regulation. | Ye R et al. | β | 2020 | β |
| Environment-Wide Association Study (E<sup>n</sup> WAS) of Prenatal and Perinatal Factors Associated With Autistic Traits: A Population-Based Study. | Amiri M et al. | β | 2020 | β |
| Environment-wide association study on childhood obesity in the U.S. | Uche UI et al. | β | 2020 | β |
| Epidemiology and Pathogenesis of Ulcerative Colitis. | Du L et al. | β | 2020 | β |
| Epigenome-wide association study for perceived discrimination among sub-Saharan African migrants in Europe - the RODAM study. | van der Laan LC et al. | β | 2020 | β |
| eQTL Mapping Using Transcription Factor Affinity. | Mariella E et al. | β | 2020 | β |
| Evolutionary Selection and Constraint on Human Knee Chondrocyte Regulation Impacts Osteoarthritis Risk. | Richard D et al. | β | 2020 | β |
| Expanding cancer predisposition genes with ultra-rare cancer-exclusive human variations. | Rasnic R et al. | β | 2020 | β |
| Expediting rare disease diagnosis: a call to bridge the gap between clinical and functional genomics. | Hartin SN et al. | β | 2020 | β |
| Founder Effect of KHDC3L, p.M1V Mutation, on Iranian Patients with Recurrent Hydatidiform Moles. | Fallahi J et al. | β | 2020 | β |
| From Genetic Association to Molecular Mechanisms for Islet-cell Dysfunction in Type 2 Diabetes. | Mattis KK et al. | β | 2020 | β |
| Functional annotation of genetic associations by transcriptome-wide association analysis provides insights into neutrophil development regulation. | Yao Y et al. | β | 2020 | β |
| GenEpi: gene-based epistasis discovery using machine learning. | Chang YC et al. | β | 2020 | β |
| Genetic Landscape of Common Epilepsies: Advancing towards Precision in Treatment. | Thakran S et al. | β | 2020 | β |
| Genetics of COPD. | Silverman EK | β | 2020 | β |
| Genome-wide analysis of expression QTL (eQTL) and allele-specific expression (ASE) in pig muscle identifies candidate genes for meat quality traits. | Liu Y et al. | β | 2020 | β |
| Genome-Wide Histone Modifications and CTCF Enrichment Predict Gene Expression in Sheep Macrophages. | Massa AT et al. | β | 2020 | β |
| Genomics and Liver Transplantation: Genomic Biomarkers for the Diagnosis of Acute Cellular Rejection. | Kohut TJ et al. | β | 2020 | β |
| Genomic Variation, Evolvability, and the Paradox of Mental Illness. | Gualtieri CT | β | 2020 | β |
| Hereditary Predisposition to Prostate Cancer: From Genetics to Clinical Implications. | BrandΓ£o A et al. | β | 2020 | β |
| HisCoM-GΓE: Hierarchical Structural Component Analysis of Gene-Based Gene-Environment Interactions. | Choi S et al. | β | 2020 | β |
| Identification and characterization of constrained non-exonic bases lacking predictive epigenomic and transcription factor binding annotations. | Grujic O et al. | β | 2020 | β |
| Identification of Functional Genetic Variants Associated With Alcohol Dependence and Related Phenotypes Using a High-Throughput Assay. | Thapa KS et al. | β | 2020 | β |
| Identifying the Impact of Inframe Insertions and Deletions on Protein Function in Cancer. | Baeissa HM et al. | β | 2020 | β |
| Identifying the Potential Mechanism of Action of SNPs Associated With Breast Cancer Susceptibility With GVITamIN. | Nguyen AP et al. | β | 2020 | β |
| IGREX for quantifying the impact of genetically regulated expression on phenotypes. | Cai M et al. | β | 2020 | β |
| <i>lncRNA-uc003opf.1</i> rs11752942 A>G polymorphism decreases neuroblastoma risk in Chinese children. | Pan J et al. | β | 2020 | β |
| Incorporating Genome Annotation Into Genomic Prediction for Carcass Traits in Chinese Simmental Beef Cattle. | Xu L et al. | β | 2020 | β |
| Integrated Transcriptome and Histone Modification Analysis Reveals NDV Infection Under Heat Stress Affects Bursa Development and Proliferation in Susceptible Chicken Line. | Chanthavixay G et al. | β | 2020 | β |
| Integrative analysis reveals RNA G-quadruplexes in UTRs are selectively constrained and enriched for functional associations. | Lee DSM et al. | β | 2020 | β |
| Integrative genomics analysis identifies five promising genes implicated in insomnia risk based on multiple omics datasets. | Sun H et al. | β | 2020 | β |
| Integrative genomics analysis of eQTL and GWAS summary data identifies PPP1CB as a novel bone mineral density risk genes. | Zhai Y et al. | β | 2020 | β |
| Integrative genomics analysis of various omics data and networks identify risk genes and variants vulnerable to childhood-onset asthma. | Ma X et al. | β | 2020 | β |
| Investigating APOE, APP-AΞ² metabolism genes and Alzheimer's disease GWAS hits in brain small vessel ischemic disease. | Blumenau S et al. | β | 2020 | β |
| KRGDB: the large-scale variant database of 1722 Koreans based on whole genome sequencing. | Jung KS et al. | β | 2020 | β |
| Linking microbial communities to ecosystem functions: what we can learn from genotype-phenotype mapping in organisms. | Morris A et al. | β | 2020 | β |
| Loss-of-function tolerance of enhancers in the human genome. | Xu D et al. | β | 2020 | β |
| MALAT1 rs619586 polymorphism functions as a prognostic biomarker in the management of differentiated thyroid carcinoma. | Wang ML et al. | β | 2020 | β |
| Mapping QTL Associated with Resistance to Avian Oncogenic Marek's Disease Virus (MDV) Reveals Major Candidate Genes and Variants. | Smith J et al. | β | 2020 | β |
| Membrane-associated mucins of the ocular surface: New genes, new protein functions and new biological roles in human and mouse. | Fini ME et al. | β | 2020 | β |
| Minor C allele of the SNP rs7873784 associated with rheumatoid arthritis and type-2 diabetes mellitus binds PU.1 and enhances TLR4 expression. | Korneev KV et al. | β | 2020 | β |
| Missing heritability of complex diseases: case solved? | GΓ©nin E | β | 2020 | β |
| ncRNA-eQTL: a database to systematically evaluate the effects of SNPs on non-coding RNA expression across cancer types. | Li J et al. | β | 2020 | β |
| ncVarDB: a manually curated database for pathogenic non-coding variants and benign controls. | Biggs H et al. | β | 2020 | β |
| Non-HLA donor-recipient mismatches in kidney transplantation-A stone left unturned. | Farouk S et al. | β | 2020 | β |
| Novel association of genetic variants in non-coding regulatory regions with HIV-1 infection. | Waqar W et al. | β | 2020 | β |
| parSMURF, a high-performance computing tool for the genome-wide detection of pathogenic variants. | Petrini A et al. | β | 2020 | β |
| Partitioning gene-based variance of complex traits by gene score regression. | Zhang W et al. | β | 2020 | β |
| Pathway Analysis of Genes Identified through Post-GWAS to Underpin Prostate Cancer Aetiology. | Farashi S et al. | β | 2020 | β |
| Perspective: Quality Versus Quantity; Is It Important to Assess the Role of Enhancers in Complex Disease from an In Vivo Perspective? | McEwan AR et al. | β | 2020 | β |
| Phylogenetic Modeling of Regulatory Element Turnover Based on Epigenomic Data. | Dukler N et al. | β | 2020 | β |
| Pitfalls in Single Clone CRISPR-Cas9 Mutagenesis to Fine-map Regulatory Intervals. | Tian R et al. | β | 2020 | β |
| Polymorphism of lncRNAs in breast cancer: Meta-analysis shows no association with susceptibility. | Mathias C et al. | β | 2020 | β |
| Polymorphisms in the PVT1 Gene and Susceptibility to the Lung Cancer in a Chinese Northeast Population: a Case-control Study. | Zhang Z et al. | β | 2020 | β |
| Predicting target genes of non-coding regulatory variants with IRT. | Wu Z et al. | β | 2020 | β |
| Predicting the effects of SNPs on transcription factor binding affinity. | Nishizaki SS 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 |
| Primo: integration of multiple GWAS and omics QTL summary statistics for elucidation of molecular mechanisms of trait-associated SNPs and detection of pleiotropy in complex traits. | Gleason KJ et al. | β | 2020 | β |
| Prostate cancer risk SNP rs10993994 is a trans-eQTL for SNHG11 mediated through MSMB. | Bicak M et al. | β | 2020 | β |
| Quantifying functional impact of non-coding variants with multi-task Bayesian neural network. | Xu C et al. | β | 2020 | β |
| Quantile regression for challenging cases of eQTL mapping. | Sun B 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 |
| Resources for functional genomic studies of health and development in nonhuman primates. | Jasinska AJ | β | 2020 | β |
| SAMA: A Fast Self-Adaptive Memetic Algorithm for Detecting SNP-SNP Interactions Associated with Disease. | Yin Y et al. | β | 2020 | β |
| Significance of Single-Nucleotide Variants in Long Intergenic Non-protein Coding RNAs. | Zou H et al. | β | 2020 | β |
| Statistical considerations for the analysis of massively parallel reporter assays data. | Qiao D et al. | β | 2020 | β |
| Systematic analyses of genetic variants in chromatin interaction regions identified four novel lung cancer susceptibility loci. | Ji P et al. | β | 2020 | β |
| Systematic integration of GATA transcription factors and epigenomes via IDEAS paints the regulatory landscape of hematopoietic cells. | Hardison RC et al. | β | 2020 | β |
| Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits. | Stolze LK et al. | β | 2020 | β |
| Targeted genotyping to identify potential functional variants associated with cholesterol content in bovine milk. | Do DN 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 cadmium-responsive gene, <i>cdr-6</i>, does not influence <i>Caenorhabditis elegans</i> responses to exogenous zinc. | Evans KS et al. | β | 2020 | β |
| The Gene <i>scb-1</i> Underlies Variation in <i>Caenorhabditis elegans</i> Chemotherapeutic Responses. | Evans KS et al. | β | 2020 | β |
| The Utility of Resolving Asthma Molecular Signatures Using Tissue-Specific Transcriptome Data. | Ghosh D et al. | β | 2020 | β |
| Tropomyosin 1 genetically constrains in vitro hematopoiesis. | Thom CS et al. | β | 2020 | β |
| Using prior information from humans to prioritize genes and gene-associated variants for complex traits in livestock. | Raymond B et al. | β | 2020 | β |
| Utilizing Deep Learning and Genome Wide Association Studies for Epistatic-Driven Preterm Birth Classification in African-American Women. | Fergus P et al. | β | 2020 | β |
| VarCon: An R Package for Retrieving Neighboring Nucleotides of an SNV. | Ptok J et al. | β | 2020 | β |
| Whole genome variants across 57 pig breeds enable comprehensive identification of genetic signatures that underlie breed features. | Xu J et al. | β | 2020 | β |
| Wnt-regulated lncRNA discovery enhanced by in vivo identification and CRISPRi functional validation. | Liu S et al. | β | 2020 | β |
| Workflow for the Implementation of Precision Genomics in Healthcare. | Mehandziska S et al. | β | 2020 | β |
| A compendium of promoter-centered long-range chromatin interactions in the human genome. | Jung I et al. | β | 2019 | β |
| A framework for linking resting-state chronnectome/genome features in schizophrenia: A pilot study. | Rashid B et al. | β | 2019 | β |
| A Functional 5'-UTR Polymorphism of MYC Contributes to Nasopharyngeal Carcinoma Susceptibility and Chemoradiotherapy Induced Toxicities. | Guo Z et al. | β | 2019 | β |
| Allele-specific enhancers mediate associations between LCAT and ABCA1 polymorphisms and HDL metabolism. | Howard AD et al. | β | 2019 | β |
| Analysis of genetic variation contributing to measured speed in Thoroughbreds identifies genomic regions involved in the transcriptional response to exercise. | Farries G et al. | β | 2019 | β |
| Ancient exapted transposable elements promote nuclear enrichment of human long noncoding RNAs. | Carlevaro-Fita J et al. | β | 2019 | β |
| An evaluation of noncoding genome annotation tools through enrichment analysis of 15 genome-wide association studies. | Li B et al. | β | 2019 | β |
| An exploratory phenome wide association study linking asthma and liver disease genetic variants to electronic health records from the Estonian Biobank. | James G et al. | β | 2019 | β |
| A phenome-wide association study (PheWAS) in the Population Architecture using Genomics and Epidemiology (PAGE) study reveals potential pleiotropy in African Americans. | Pendergrass SA et al. | β | 2019 | β |
| Application of Chaotic Laws to Improve Haplotype Assembly Using Chaos Game Representation. | Olyaee MH et al. | β | 2019 | β |
| A review of databases predicting the effects of SNPs in miRNA genes or miRNA-binding sites. | Fehlmann T et al. | β | 2019 | β |
| A Solanum neorickii introgression population providing a powerful complement to the extensively characterized Solanum pennellii population. | Brog YM et al. | β | 2019 | β |
| A Survey of Gene Prioritization Tools for Mendelian and Complex Human Diseases. | Zolotareva O et al. | β | 2019 | β |
| A targeted genotyping approach to enhance the identification of variants for lactation persistency in dairy cows. | Do DN et al. | β | 2019 | β |
| Benefits and limitations of genome-wide association studies. | Tam V et al. | β | 2019 | β |
| Biological and practical implications of genome-wide association study of schizophrenia using Bayesian variable selection. | Rowe B et al. | β | 2019 | β |
| Bridging the Gaps in Personalized Medicine Value Assessment: A Review of the Need for Outcome Metrics across Stakeholders and Scientific Disciplines. | Bush WS et al. | β | 2019 | β |
| Cell Specificity of Human Regulatory Annotations and Their Genetic Effects on Gene Expression. | Varshney A et al. | β | 2019 | β |
| Centromeric Satellite DNAs: Hidden Sequence Variation in the Human Population. | Miga KH | β | 2019 | β |
| Clinical or neuroimaging profiles in the assessment of genetic variants associated with neurodegenerative diseases. | MatΓas-Guiu J et al. | β | 2019 | β |
| Clinical significance of long noncoding RNA VIM-AS1 and CTBP1-AS2 expression in type 2 diabetes. | Erfanian Omidvar M et al. | β | 2019 | β |
| Collective influencers in protein interaction networks. | Boltz TA et al. | β | 2019 | β |
| Common-variant associations with fragile X syndrome. | Crowley JJ et al. | β | 2019 | β |
| Computational Methods for Detection of Differentially Methylated Regions Using Kernel Distance and Scan Statistics. | Dunbar F et al. | β | 2019 | β |
| CRISPR/Cas9 guided genome and epigenome engineering and its therapeutic applications in immune mediated diseases. | Singh DD et al. | β | 2019 | β |
| Cross-Cancer Pleiotropic Analysis Reveals Novel Susceptibility Loci for Lung Cancer. | Wang L et al. | β | 2019 | β |
| Deregulation of long noncoding RNA SNHG17 and TTC28-AS1 is associated with type 2 diabetes mellitus. | Mohamadi M et al. | β | 2019 | β |
| Determining population stratification and subgroup effects in association studies of rare genetic variants for nicotine dependence. | Hsieh AR et al. | β | 2019 | β |
| Development of a tissue augmented Bayesian model for expression quantitative trait loci analysis. | Zhuang YH et al. | β | 2019 | β |
| Disease-Associated SNPs in Inflammation-Related lncRNAs. | Castellanos-Rubio A et al. | β | 2019 | β |
| Disease classification: from phenotypic similarity to integrative genomics and beyond. | Dozmorov MG | β | 2019 | β |
| Dynamic modelling of an ACADS genotype in fatty acid oxidation - Application of cellular models for the analysis of common genetic variants. | Matejka K et al. | β | 2019 | β |
| Entanglement of Genetics and Epigenetics in Parkinson's Disease. | van Heesbeen HJ et al. | β | 2019 | β |
| Epigenetics Analysis and Integrated Analysis of Multiomics Data, Including Epigenetic Data, Using Artificial Intelligence in the Era of Precision Medicine. | Hamamoto R et al. | β | 2019 | β |
| Established and emerging strategies to crack the genetic code of obesity. | Tam V et al. | β | 2019 | β |
| Estimating the Frequency of Single Point Driver Mutations across Common Solid Tumours. | Darbyshire M et al. | β | 2019 | β |
| Expression Quantitative Trait Loci in Equine Skeletal Muscle Reveals Heritable Variation in Metabolism and the Training Responsive Transcriptome. | Farries G et al. | β | 2019 | β |
| Extensive impact of low-frequency variants on the phenotypic landscape at population-scale. | Fournier T et al. | β | 2019 | β |
| Fine-mapping <i>cis</i>-regulatory variants in diverse human populations. | Tehranchi A et al. | β | 2019 | β |
| Fine-Scale Characterization of Genomic Structural Variation in the Human Genome Reveals Adaptive and Biomedically Relevant Hotspots. | Lin YL et al. | β | 2019 | β |
| From Schizophrenia Genetics to Disease Biology: Harnessing New Concepts and Technologies. | Duan J et al. | β | 2019 | β |
| Functional interpretation of genetic variants using deep learning predicts impact on chromatin accessibility and histone modification. | Hoffman GE et al. | β | 2019 | β |
| GARFIELD classifies disease-relevant genomic features through integration of functional annotations with association signals. | Iotchkova V et al. | β | 2019 | β |
| Gene expression models based on transcription factor binding events confer insight into functional cis-regulatory variants. | Shi W et al. | β | 2019 | β |
| Gene loci associated with insulin secretion in islets from non-diabetic mice. | Keller MP et al. | β | 2019 | β |
| Genome-wide approaches to unravelling host-virus interactions in Dengue and Zika infections. | Carlin AF et al. | β | 2019 | β |
| Genome-Wide Association Study Identifies Genomic Loci Affecting Filet Firmness and Protein Content in Rainbow Trout. | Ali A et al. | β | 2019 | β |
| HACER: an atlas of human active enhancers to interpret regulatory variants. | Wang J et al. | β | 2019 | β |
| Host susceptibility to severe influenza A virus infection. | Clohisey S et al. | β | 2019 | β |
| How genome-wide association studies (GWAS) made traditional candidate gene studies obsolete. | Duncan LE et al. | β | 2019 | β |
| Identification and Massively Parallel Characterization of Regulatory Elements Driving Neural Induction. | Inoue F et al. | β | 2019 | β |
| Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays. | Castaldi PJ et al. | β | 2019 | β |
| Identification of Proteins Interacting with Single Nucleotide Polymorphisms (SNPs) by DNA Pull-Down Assay. | Singh B et al. | β | 2019 | β |
| Identifying Genetic Modifiers in the Age of Exome: Current Considerations. | Martin LJ et al. | β | 2019 | β |
| Identifying loci with breeding potential across temperate and tropical adaptation via EigenGWAS and EnvGWAS. | Li J et al. | β | 2019 | β |
| Identifying Multi-Omics Causers and Causal Pathways for Complex Traits. | Qin H et al. | β | 2019 | β |
| Identifying Rare Variant Associations in Admixed Populations. | Qin H et al. | β | 2019 | β |
| <i>LRP1B</i> Polymorphisms Are Associated with Multiple Myeloma Risk in a Chinese Han Population. | Li B et al. | β | 2019 | β |
| Implications of human induced pluripotent stem cells in metabolic disorders: from drug discovery toward precision medicine. | Cota-Coronado A et al. | β | 2019 | β |
| Improved annotation of the domestic pig genome through integration of Iso-Seq and RNA-seq data. | Beiki H et al. | β | 2019 | β |
| Improving the Quantification of DNA Sequences Using Evolutionary Information Based on Deep Learning. | Tayara H et al. | β | 2019 | β |
| Inferring disease-associated long non-coding RNAs using genome-wide tissue expression profiles. | Pan X et al. | β | 2019 | β |
| Informing disease modelling with brain-relevant functional genomic annotations. | Reynolds RH et al. | β | 2019 | β |
| Insulin resistance and adrenal incidentalomas: A bidirectional relationship. | Sydney GI et al. | β | 2019 | β |
| Integrating regulatory features data for prediction of functional disease-associated SNPs. | Dong SS et al. | β | 2019 | β |
| Integrating transcriptome-wide association study and mRNA expression profiling identifies novel genes associated with bone mineral density. | Ma M et al. | β | 2019 | β |
| Integration of genetic and functional genomics data to uncover chemotherapeutic induced cytotoxicity. | Li R et al. | β | 2019 | β |
| Integrative Genomics Analysis Unravels Tissue-Specific Pathways, Networks, and Key Regulators of Blood Pressure Regulation. | Zhao Y et al. | β | 2019 | β |
| Investigation of multi-trait associations using pathway-based analysis of GWAS summary statistics. | Pei G et al. | β | 2019 | β |
| IRAK-M Associates with Susceptibility to Adult-Onset Asthma and Promotes Chronic Airway Inflammation. | Liu Y et al. | β | 2019 | β |
| Machine Learning for Integrating Data in Biology and Medicine: Principles, Practice, and Opportunities. | Zitnik M et al. | β | 2019 | β |
| Mapping causal pathways from genetics to neuropsychiatric disorders using genome-wide imaging genetics: Current status and future directions. | Le BD et al. | β | 2019 | β |
| Mechanisms of Disease: Inflammatory Bowel Diseases. | Ramos GP et al. | β | 2019 | β |
| Mendelian randomization of inorganic arsenic metabolism as a risk factor for hypertension- and diabetes-related traits among adults in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) cohort. | Scannell Bryan M et al. | β | 2019 | β |
| Meta-analysis of genomic variants and gene expression data in schizophrenia suggests the potential need for adjunctive therapeutic interventions for neuropsychiatric disorders. | Anirudh Chellappa S et al. | β | 2019 | β |
| Minor alleles are associated with white rust (<i>Albugo occidentalis</i>) susceptibility in spinach (<i>Spinacia oleracea</i>). | Awika HO et al. | β | 2019 | β |
| Modeling RNA-Binding Protein Specificity InΒ Vivo by Precisely Registering Protein-RNA Crosslink Sites. | Feng H et al. | β | 2019 | β |
| Monitoring of Lymphocyte Populations During Treatment with Interferon-Ξ²-1b to Predict Multiple Sclerosis Disability Progression. | ValiΕ‘ M et al. | β | 2019 | β |
| MPRAnalyze: statistical framework for massively parallel reporter assays. | Ashuach T et al. | β | 2019 | β |
| Multi-omics integration reveals molecular networks and regulators of psoriasis. | Zhao Y et al. | β | 2019 | β |
| Multi-species annotation of transcriptome and chromatin structure in domesticated animals. | Foissac S et al. | β | 2019 | β |
| Nature and nurture of tissue-specific macrophage phenotypes. | Hoeksema MA et al. | β | 2019 | β |
| NCBoost classifies pathogenic non-coding variants in Mendelian diseases through supervised learning on purifying selection signals in humans. | Caron B et al. | β | 2019 | β |
| Novel idiopathic pulmonary fibrosis susceptibility variants revealed by deepΒ sequencing. | Lorenzo-Salazar JM et al. | β | 2019 | β |
| On Using Local Ancestry to Characterize the Genetic Architecture of Human Traits: Genetic Regulation of Gene Expression in Multiethnic or Admixed Populations. | Zhong Y et al. | β | 2019 | β |
| p53-responsive TLR8 SNP enhances human innate immune response to respiratory syncytial virus. | Menendez D et al. | β | 2019 | β |
| Polygenic burden in focal and generalized epilepsies. | Leu C et al. | β | 2019 | β |
| Polygenic Risk Score for Alzheimer's Disease Is Associated With Ch4 Volume in Normal Subjects. | Wang T et al. | β | 2019 | β |
| Powerful testing via hierarchical linkage disequilibrium in haplotype association studies. | Balliu B et al. | β | 2019 | β |
| Predicting functional variants in enhancer and promoter elements using RegulomeDB. | Dong S et al. | β | 2019 | β |
| Predicting male fertility in dairy cattle using markers with large effect and functional annotation data. | Nani JP et al. | β | 2019 | β |
| Prioritizing putative influential genes in cardiovascular disease susceptibility by applying tissue-specific Mendelian randomization. | Taylor K et al. | β | 2019 | β |
| Protein-coding variants implicate novel genes related to lipid homeostasis contributing to body-fat distribution. | Justice AE et al. | β | 2019 | β |
| QTG-Finder: A Machine-Learning Based Algorithm To Prioritize Causal Genes of Quantitative Trait Loci in Arabidopsis and Rice. | Lin F et al. | β | 2019 | β |
| Quantitative analyses of adiposity dynamics in zebrafish. | Elemans LMH et al. | β | 2019 | β |
| Recent Advances in the Genetics of Fractures in Osteoporosis. | Koromani F et al. | β | 2019 | β |
| RegSNPs-intron: a computational framework for predicting pathogenic impact of intronic single nucleotide variants. | Lin H et al. | β | 2019 | β |
| Single haplotype admixture models using large scale HLA genotype frequencies to reproduce human admixture. | Simanovsky AL et al. | β | 2019 | β |
| Single Nucleotide Polymorphisms of Ubiquitin-Related Genes were Associated with Allograft Fibrosis of Renal Transplant Fibrosis. | Gui Z et al. | β | 2019 | β |
| Systematic discovery of conservation states for single-nucleotide annotation of the human genome. | Arneson A et al. | β | 2019 | β |
| Systematic identification of lincRNA-based prognostic biomarkers by integrating lincRNA expression and copy number variation in lung adenocarcinoma. | Wang L et al. | β | 2019 | β |
| TAGOOS: genome-wide supervised learning of non-coding loci associated to complex phenotypes. | GonzΓ‘lez A et al. | β | 2019 | β |
| Targeted, High-Resolution RNA Sequencing of Non-coding Genomic Regions Associated With Neuropsychiatric Functions. | Hardwick SA et al. | β | 2019 | β |
| Ten years of the horse reference genome: insights into equine biology, domestication and population dynamics in the post-genome era. | Raudsepp T et al. | β | 2019 | β |
| The ATP-Binding Cassette Gene ABCF1 Functions as an E2Β Ubiquitin-Conjugating Enzyme Controlling Macrophage Polarization to Dampen Lethal Septic Shock. | Arora H et al. | β | 2019 | β |
| The Contribution of Low-Frequency and Rare Coding Variation to Susceptibility to Type 2 Diabetes. | Flannick J | β | 2019 | β |
| The MHC in the era of next-generation sequencing: Implications for bridging structure with function. | Petersdorf EW et al. | β | 2019 | β |
| The Pathogenesis of Endometriosis: Molecular and Cell Biology Insights. | LaganΓ AS et al. | β | 2019 | β |
| The role of long non-coding RNAs in the pathogenesis of hereditary diseases. | Sparber P et al. | β | 2019 | β |
| TriPOINT: a software tool to prioritize important genes in pathways and their non-coding regulators. | Thibodeau A et al. | β | 2019 | β |
| Use of big data in drug development for precision medicine: an update. | Qian T et al. | β | 2019 | β |
| Whole-genome sequencing identifies complex contributions to genetic risk by variants in genes causing monogenic systemic lupus erythematosus. | AlmlΓΆf JC et al. | β | 2019 | β |
| X-chromosome genetic association test incorporating X-chromosome inactivation and imprinting effects. | Liu W et al. | β | 2019 | β |
| 2D association and integrative omics analysis in rice provides systems biology view in trait analysis. | Zhang W et al. | β | 2018 | β |
| A common regulatory variant in SLC35B4 influences the recurrence and survival of prostate cancer. | Huang EY et al. | β | 2018 | β |
| A comprehensive review of the genetic and biological evidence supports a role for MicroRNA-137 in the etiology of schizophrenia. | Sakamoto K et al. | β | 2018 | β |
| ADRA2B deletion variant and enhanced cognitive processing of emotional information: A meta-analytical review. | Xie W et al. | β | 2018 | β |
| A fine-mapping study of central obesity loci incorporating functional annotation and imputation. | Zhang X et al. | β | 2018 | β |
| A genetic variant near adaptor-related protein complex 2 alpha 2 subunit gene is associated with coronary artery disease in a Chinese population. | Wang S et al. | β | 2018 | β |
| A large-scale integrative analysis of GWAS and common meQTLs across whole life course identifies genes, pathways and tissue/cell types for three major psychiatric disorders. | Zhao Y et al. | β | 2018 | β |
| An expression quantitative trait locus variant for LKB1 gene predicts the clinical outcomes of chemotherapy in patients with non-small cell lung cancer. | Seo H et al. | β | 2018 | β |
| Another Round of "Clue" to Uncover the Mystery of Complex Traits. | Verma SS et al. | β | 2018 | β |
| Applications of ENCODE data to Systematic Analyses via Data Integration. | Zhao Y et al. | β | 2018 | β |
| A screen for deeply conserved non-coding GWAS SNPs uncovers aΒ MIR-9-2Β functional mutation associated to retinal vasculature defects in human. | Madelaine R et al. | β | 2018 | β |
| Association Between Four Polymorphisms in lncRNA and Risk of Lung Cancer in a Chinese Never-Smoking Female Population. | Gao M et al. | β | 2018 | β |
| Association detection between ordinal trait and rare variants based on adaptive combination of P values. | Wang M et al. | β | 2018 | β |
| A systematic analysis highlights multiple long non-coding RNAs associated with cardiometabolic disorders. | Ghanbari M et al. | β | 2018 | β |
| A transcriptome-wide association study of 229,000 women identifies new candidate susceptibility genes for breast cancer. | Wu L et al. | β | 2018 | β |
| Bayesian nonparametric discovery of isoforms and individual specific quantification. | Aguiar D et al. | β | 2018 | β |
| Beyond heritability: improving discoverability in imaging genetics. | Fan CC et al. | β | 2018 | β |
| Bridging the gap by discerning SNPs in linkage disequilibrium and their role in breast cancer. | Maqbool SN et al. | β | 2018 | β |
| Capture Hi-C identifies putative target genes at 33 breast cancer risk loci. | Baxter JS et al. | β | 2018 | β |
| Characterization and non-parametric modeling of the developing serum proteome during infancy and early childhood. | LietzΓ©n N et al. | β | 2018 | β |
| Chromatin interactions and expression quantitative trait loci reveal genetic drivers of multimorbidities. | Fadason T et al. | β | 2018 | β |
| Colon-specific eQTL analysis to inform on functional SNPs. | Moreno V et al. | β | 2018 | β |
| Computational drug repositioning for rare diseases in the era of precision medicine. | Delavan B et al. | β | 2018 | β |
| Conservation of biodiversity in the genomics era. | Supple MA et al. | β | 2018 | β |
| COPD GWAS variant at 19q13.2 in relation with DNA methylation and gene expression. | Nedeljkovic I et al. | β | 2018 | β |
| Defining Phenotypes from Clinical Data to Drive Genomic Research. | Robinson JR et al. | β | 2018 | β |
| Deiodinases, Organic Anion Transporter Polypeptide Polymorphisms, and Thyroid Hormones in Patients with Myocardial Infarction. | Brozaitiene J et al. | β | 2018 | β |
| De novo mutations in regulatory elements in neurodevelopmental disorders. | Short PJ et al. | β | 2018 | β |
| Developments in lncRNA drug discovery: where are we heading? | Blokhin I et al. | β | 2018 | β |
| Dissecting and analyzing key residues in protein-DNA complexes. | Kulandaisamy A et al. | β | 2018 | β |
| DNA methylation and antipsychotic treatment mechanisms in schizophrenia: Progress and future directions. | Ovenden ES et al. | β | 2018 | β |
| Dysregulation of miRNA and its potential therapeutic application in schizophrenia. | Cao T et al. | β | 2018 | β |
| Editing the Epigenome: Reshaping the Genomic Landscape. | Holtzman L et al. | β | 2018 | β |
| Empirical Bayes Estimation of Semi-parametric Hierarchical Mixture Models for Unbiased Characterization of Polygenic Disease Architectures. | Nishino J et al. | β | 2018 | β |
| Enhancer Logic and Mechanics in Development and Disease. | Rickels R et al. | β | 2018 | β |
| Ensemble learning for detecting gene-gene interactions in colorectal cancer. | Dorani F et al. | β | 2018 | β |
| Evolution of DNAase I Hypersensitive Sites in MHC Regulatory Regions of Primates. | Jin Y et al. | β | 2018 | β |
| Existing and novel biomarkers for precision medicine in systemic sclerosis. | Wermuth PJ et al. | β | 2018 | β |
| Exploring the Genetic Correlation Between Growth and Immunity Based on Summary Statistics of Genome-Wide Association Studies. | Zhang Z et al. | β | 2018 | β |
| Extracting Complementary Insights from Molecular Phenotypes for Prioritization of Disease-Associated Mutations. | Wierbowski SD et al. | β | 2018 | β |
| FAM210B is an erythropoietin target and regulates erythroid heme synthesis by controlling mitochondrial iron import and ferrochelatase activity. | Yien YY et al. | β | 2018 | β |
| Functional Genetic Variants Revealed by Massively Parallel Precise Genome Editing. | Sharon E et al. | β | 2018 | β |
| Functional genomics and assays of regulatory activity detect mechanisms at loci for lipid traits and coronary artery disease. | Roman TS et al. | β | 2018 | β |
| Functional intronic variant of SLC5A10 affects DRG2 expression and survival outcomes of early-stage non-small-cell lung cancer. | Hong MJ et al. | β | 2018 | β |
| Functional Partitioning of Genomic Variance and Genome-Wide Association Study for Carcass Traits in Korean Hanwoo Cattle Using Imputed Sequence Level SNP Data. | Bhuiyan MSA et al. | β | 2018 | β |
| Functional polymorphisms of the neuropilin 1 gene are associated with the risk of tetralogy of Fallot in a Chinese Han population. | Fan SH et al. | β | 2018 | β |
| Functional Variants Identified Efficiently through an Integrated Transcriptome and Epigenome Analysis. | Meng F et al. | β | 2018 | β |
| Gene-Based Nonparametric Testing of Interactions Using Distance Correlation Coefficient in Case-Control Association Studies. | Guo Y et al. | β | 2018 | β |
| Gene-gene and gene-environment interactions in complex traits in yeast. | Yadav A et al. | β | 2018 | β |
| Genetic and Epigenetic Alterations Underlie Oligodendroglia Susceptibility and White Matter Etiology in Psychiatric Disorders. | Chen X et al. | β | 2018 | β |
| Genetic architecture: the shape of the genetic contribution to human traits and disease. | Timpson NJ et al. | β | 2018 | β |
| Genetic association of molecular traits: A help to identify causative variants in complex diseases. | Vandiedonck C | β | 2018 | β |
| Genetic disease risks can be misestimated across global populations. | Kim MS et al. | β | 2018 | β |
| Genetic dissection of the BRCA2 promoter and transcriptional impact of DNA variants. | Fraile-Bethencourt E et al. | β | 2018 | β |
| Genetic variants in lncRNA HOTAIR are associated with lung cancer susceptibility in a Chinese Han population in China: a case-control study. | Li H et al. | β | 2018 | β |
| Genetic variants in mRNA untranslated regions. | Steri M et al. | β | 2018 | β |
| Genetic variants in PI3K/Akt/mTOR pathway genes contribute to gastric cancer risk. | Ge Y et al. | β | 2018 | β |
| Genome-wide and Phenome-wide Approaches to Understand Variable Drug Actions in Electronic Health Records. | Robinson JR et al. | β | 2018 | β |
| Genome-Wide Association Studies. | Dehghan A | β | 2018 | β |
| Genome-Wide Association Studies of Metabolite Concentrations (mGWAS): Relevance for Nephrology. | KΓΆttgen A et al. | β | 2018 | β |
| Genome-wide association study identifies the GLDC/IL33 locus associated with survival of osteosarcoma patients. | Koster R et al. | β | 2018 | β |
| Genome-wide association study of lncRNA polymorphisms with bone mineral density. | Zeng Q et al. | β | 2018 | β |
| Genome-wide association study uncovers a novel QTL allele of AtS40-3 that affects the sex ratio of cyst nematodes in Arabidopsis. | Anwer MA et al. | β | 2018 | β |
| Genome-wide discovery of DNA polymorphisms by whole genome sequencing differentiates weedy and cultivated rice. | Chai C et al. | β | 2018 | β |
| Genotype Influences Day-to-Day Variability in Sleep in Drosophila melanogaster. | Wu KJ et al. | β | 2018 | β |
| Germline Variation and Breast Cancer Incidence: A Gene-Based Association Study and Whole-Genome Prediction of Early-Onset Breast Cancer. | Scannell Bryan M et al. | β | 2018 | β |
| GlobAl Distribution of GEnetic Traits (GADGET) web server: polygenic trait scores worldwide. | Chande AT et al. | β | 2018 | β |
| GWAS signals revisited using human knockouts. | Maddirevula S et al. | β | 2018 | β |
| Harnessing the biological complexity of Big Data from LINCS gene expression signatures. | Musa A et al. | β | 2018 | β |
| How to estimate kinship. | Goudet J et al. | β | 2018 | β |
| Human Genetic Susceptibility to Native Valve <i>Staphylococcus aureus</i> Endocarditis in Patients With <i>S. aureus</i> Bacteremia: Genome-Wide Association Study. | Moreau K et al. | β | 2018 | β |
| Identification of deleterious and regulatory genomic variations in known asthma loci. | Neville MDC et al. | β | 2018 | β |
| Identification of expression quantitative trait loci associated with schizophrenia and affective disorders in normal brain tissue. | Bhalala OG et al. | β | 2018 | β |
| Identification of novel alleles associated with insulin resistance in childhood obesity using pooled-DNA genome-wide association study approach. | Kotnik P et al. | β | 2018 | β |
| Identification of Pleiotropic Cancer Susceptibility Variants from Genome-Wide Association Studies Reveals Functional Characteristics. | Wu YH et al. | β | 2018 | β |
| Identifying noncoding risk variants using disease-relevant gene regulatory networks. | Gao L et al. | β | 2018 | β |
| Incorporating Functional Genomic Information to Enhance Polygenic Signal and Identify Variants Involved in Gene-by-Environment Interaction for Young Adult Alcohol Problems. | Salvatore JE et al. | β | 2018 | β |
| Inference of genetic architecture from chromosome partitioning analyses is sensitive to genome variation, sample size, heritability and effect size distribution. | Kemppainen P et al. | β | 2018 | β |
| In Rheumatoid Arthritis, Synovitis at Different Inflammatory Sites Is Dominated by Shared but Patient-Specific T Cell Clones. | Musters A et al. | β | 2018 | β |
| Integrated analysis of human genetic association study and mouse transcriptome suggests LBH and SHF genes as novel susceptible genes for amyloid-Ξ² accumulation in Alzheimer's disease. | Yamaguchi-Kabata Y et al. | β | 2018 | β |
| Integrated analysis of SNP, CNV and gene expression data in genetic association studies. | Momtaz R et al. | β | 2018 | β |
| Integrating ChIP-seq with other functional genomics data. | Jiang S et al. | β | 2018 | β |
| Integration of summary data from GWAS and eQTL studies identified novel causal BMD genes with functional predictions. | Meng XH et al. | β | 2018 | β |
| Integrative Analysis of lncRNAs in Th17 Cell Lineage to Discover New Potential Biomarkers and Therapeutic Targets in Autoimmune Diseases. | Teimuri S et al. | β | 2018 | β |
| Integrative analysis of super enhancer SNPs for type 2 diabetes. | Sun W et al. | β | 2018 | β |
| Integrative Bioinformatics Approaches for Identification of Drug Targets in Hypertension. | Hemerich D et al. | β | 2018 | β |
| Integrative functional analysis of super enhancer SNPs for coronary artery disease. | Gong J et al. | β | 2018 | β |
| Integrative genomics identifies new genes associated with severe COPD and emphysema. | Sakornsakolpat P et al. | β | 2018 | β |
| Integrative single-cell analysis of transcriptional and epigenetic states in the human adult brain. | Lake BB et al. | β | 2018 | β |
| Intronic variant of EGFR is associated with GBAS expression and survival outcome of early-stage non-small cell lung cancer. | Hong MJ et al. | β | 2018 | β |
| Invention and Early History of Exon Skipping and Splice Modulation. | Lim KRQ et al. | β | 2018 | β |
| Ironing out the Details: Untangling Dietary Iron and Genetic Background in Diabetes. | Miranda MA et al. | β | 2018 | β |
| Large-effect loci affect survival in Tasmanian devils (Sarcophilus harrisii) infected with a transmissible cancer. | Margres MJ et al. | β | 2018 | β |
| Leveraging molecular quantitative trait loci to understand the genetic architecture of diseases and complex traits. | Hormozdiari F et al. | β | 2018 | β |
| Leveraging Multilayered "Omics" Data for Atopic Dermatitis: A Road Map to Precision Medicine. | Ghosh D et al. | β | 2018 | β |
| Linkage mapping of yeast cross protection connects gene expression variation to a higher-order organismal trait. | Stuecker TN et al. | β | 2018 | β |
| LncRNAs: Proverbial Genomic "Junk" or Key Epigenetic Regulators During Cardiac Fibrosis in Diabetes? | Biswas S et al. | β | 2018 | β |
| Local sequence features that influence AP-1 <i>cis</i>-regulatory activity. | Chaudhari HG et al. | β | 2018 | β |
| Lymphocyte populations and their change during five-year glatiramer acetate treatment. | Pavelek Z et al. | β | 2018 | β |
| Mendelian Randomization Studies Promise to Shorten the Journey to FDAΒ Approval. | Roberts R | β | 2018 | β |
| MMARGE: Motif Mutation Analysis for Regulatory Genomic Elements. | Link VM et al. | β | 2018 | β |
| Navigating the Interface Between Landscape Genetics and Landscape Genomics. | Storfer A et al. | β | 2018 | β |
| NONCODEV5: a comprehensive annotation database for long non-coding RNAs. | Fang S et al. | β | 2018 | β |
| Obligatory and facilitative allelic variation in the DNA methylome within common disease-associated loci. | Bell CG et al. | β | 2018 | β |
| PancanQTL: systematic identification of cis-eQTLs and trans-eQTLs in 33 cancer types. | Gong J et al. | β | 2018 | β |
| PASSPORT-seq: A Novel High-Throughput Bioassay to Functionally Test Polymorphisms in Micro-RNA Target Sites. | Ipe J et al. | β | 2018 | β |
| Patient Similarity Networks for Precision Medicine. | Pai S et al. | β | 2018 | β |
| PheWAS and Beyond: The Landscape of Associations with Medical Diagnoses and Clinical Measures across 38,662 Individuals from Geisinger. | Verma A et al. | β | 2018 | β |
| Potential Mutations in Chinese Pathologic Myopic Patients and Contributions to Phenotype. | Chen L et al. | β | 2018 | β |
| Robust Findings From 25Β Years of PTSD Genetics Research. | Duncan LE et al. | β | 2018 | β |
| RUNX3 and T-Bet in Immunopathogenesis of Ankylosing Spondylitis-Novel Targets for Therapy? | Vecellio M et al. | β | 2018 | β |
| ShinyGPA: An interactive visualization toolkit for investigating pleiotropic architecture using GWAS datasets. | Kortemeier E et al. | β | 2018 | β |
| Simulating variance heterogeneity in quantitative genome wide association studies. | Al Kawam A et al. | β | 2018 | β |
| Spontaneous preterm birth: advances toward the discovery of genetic predisposition. | Strauss JF et al. | β | 2018 | β |
| Strategies for processing and quality control of Illumina genotyping arrays. | Zhao S et al. | β | 2018 | β |
| Successful use of whole genome amplified DNA from multiple source types for high-density Illumina SNP microarrays. | Dagnall CL et al. | β | 2018 | β |
| Systematic approach demonstrates enrichment of multiple interactions between non-<i>HLA</i> risk variants and <i>HLA-DRB1</i> risk alleles in rheumatoid arthritis. | Diaz-Gallo LM et al. | β | 2018 | β |
| Systems biology for nursing in the era of big data and precision health. | Founds S | β | 2018 | β |
| The biological impact of blood pressure-associated genetic variants in the natriuretic peptide receptor C gene on human vascular smooth muscle. | Ren M et al. | β | 2018 | β |
| The Emerging Role of Long Noncoding RNAs in Human Disease. | DiStefano JK | β | 2018 | β |
| The Human Transcription Factors. | Lambert SA et al. | β | 2018 | β |
| The Limits and Potential Future Applications of Personalized Medicine to Prevent Complex Chronic Disease. | Horesh Bergquist S et al. | β | 2018 | β |
| The protective role of TBX21-1514T>C polymorphism in susceptibility to multiple sclerosis. | Akbarian F et al. | β | 2018 | β |
| The role of gut microbiota in the effects of maternal obesity during pregnancy on offspring metabolism. | Zhou L et al. | β | 2018 | β |
| The rs10229583 polymorphism near paired box gene 4 is associated with gestational diabetes mellitus in Chinese women. | Xu T et al. | β | 2018 | β |
| TNIP1 in Autoimmune Diseases: Regulation of Toll-like Receptor Signaling. | Shamilov R et al. | β | 2018 | β |
| Towards a map of cis-regulatory sequences in the human genome. | Niu M et al. | β | 2018 | β |
| Transcription factors operate across disease loci, with EBNA2 implicated in autoimmunity. | Harley JB et al. | β | 2018 | β |
| Type 2 Diabetes Mellitus: Integrative Analysis of Multiomics Data for Biomarker Discovery. | Ge S et al. | β | 2018 | β |
| Understanding the role of the chromosome 15q25.1 in COPD through epigenetics and transcriptomics. | Nedeljkovic I et al. | β | 2018 | β |
| Updates on Genome-Wide Association Findings in Eating Disorders and Future Application to Precision Medicine. | Breithaupt L et al. | β | 2018 | β |
| Using Droplet Digital PCR to Analyze Allele-Specific RNA Expression. | Kamitaki N et al. | β | 2018 | β |
| Variance explained by whole genome sequence variants in coding and regulatory genome annotations for six dairy traits. | Koufariotis LT et al. | β | 2018 | β |
| Whole Transcriptome Profiling: An RNA-Seq Primer and Implications for Pharmacogenomics Research. | SΓ‘ ACC et al. | β | 2018 | β |
| Widespread Cumulative Influence of Small Effect Size Mutations on Yeast Quantitative Traits. | Hua B et al. | β | 2018 | β |
| WITHDRAWN: Single nucleotide polymorphism, a putative driver for the role of long intergeneric non-coding RNA. | Zou H et al. | β | 2018 | β |
| A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease. | Hayete B et al. | β | 2017 | β |
| Accurate eQTL prioritization with an ensemble-based framework. | Zeng H et al. | β | 2017 | β |
| A cis-eQTL genetic variant of the cancer-testis gene CCDC116 is associated with risk of multiple cancers. | Qin N et al. | β | 2017 | β |
| A Decade of Genetic and Metabolomic Contributions to Type 2 Diabetes Risk Prediction. | Merino J et al. | β | 2017 | β |
| A decade of progress on the genetic basis of coronary artery disease. Practical insights for the internist. | Girelli D et al. | β | 2017 | β |
| A functional strategy to characterize expression Quantitative Trait Loci. | Grassi E et al. | β | 2017 | β |
| Alcohol metabolism and oesophageal cancer: a systematic review of the evidence. | Matejcic M et al. | β | 2017 | β |
| Allele-specific quantitative proteomics unravels molecular mechanisms modulated by cis-regulatory PPARG locus variation. | Lee H et al. | β | 2017 | β |
| Analysis of Gene-Gene Interactions. | Cole BS et al. | β | 2017 | β |
| Ancient selection for derived alleles at a GDF5 enhancer influencing human growth and osteoarthritis risk. | Capellini TD et al. | β | 2017 | β |
| An exome sequencing based approach for genome-wide association studies in the dog. | Broeckx BJG et al. | β | 2017 | β |
| An Integrative Genomics Approach for Associating Genome-Wide Association Studies Information With Localized and Metastatic Prostate Cancer Phenotypes. | Hicks C et al. | β | 2017 | β |
| A non-threshold region-specific method for detecting rare variants in complex diseases. | Hsieh AR et al. | β | 2017 | β |
| A novel network analysis approach reveals DNA damage, oxidative stress and calcium/cAMP homeostasis-associated biomarkers in frontotemporal dementia. | Palluzzi F et al. | β | 2017 | β |
| A polymorphism in miR-1262 regulatory region confers the risk of lung cancer in Chinese population. | Xie K et al. | β | 2017 | β |
| A Scalable Bayesian Method for Integrating Functional Information in Genome-wide Association Studies. | Yang J et al. | β | 2017 | β |
| A sequence-based method to predict the impact of regulatory variants using random forest. | Liu Q et al. | β | 2017 | β |
| Association between polymorphisms in folate metabolism genes and maternal risk for Down syndrome: A meta-analysis. | Gu Y | β | 2017 | β |
| Associations between novel genetic variants in the promoter region of <i>MALAT1</i> and risk of colorectal cancer. | Li Y et al. | β | 2017 | β |
| Autoimmune aspects of psoriasis: Heritability and autoantigens. | Prinz JC | β | 2017 | β |
| Beyond mRNA: The role of non-coding RNAs in normal and aberrant hematopoiesis. | Wilkes MC et al. | β | 2017 | β |
| Cellular network perturbations by disease-associated variants. | Sewell JA et al. | β | 2017 | β |
| Cis-SNPs Set Testing and PrediXcan Analysis for Gene Expression Data using Linear Mixed Models. | Zeng P et al. | β | 2017 | β |
| Common variants in ZMIZ1 and near NGF confer risk for primary dysmenorrhoea. | Li Z et al. | β | 2017 | β |
| Comprehensive Computational Analysis of GWAS Loci Identifies CCR2 as a Candidate Gene for Celiac Disease Pathogenesis. | Banaganapalli B et al. | β | 2017 | β |
| Comprehensive evaluation of disease- and trait-specific enrichment for eight functional elements among GWAS-identified variants. | Markunas CA et al. | β | 2017 | β |
| Crop Breeding Chips and Genotyping Platforms: Progress, Challenges, and Perspectives. | Rasheed A et al. | β | 2017 | β |
| Crossed wires: 3D genome misfolding in human disease. | Norton HK et al. | β | 2017 | β |
| Current Challenges and New Opportunities for Gene-Environment Interaction Studies of Complex Diseases. | McAllister K et al. | β | 2017 | β |
| De novo RNA sequence assembly during in vivo inflammatory stress reveals hundreds of unannotated lincRNAs in human blood CD14<sup>+</sup> monocytes and in adipose tissue. | Xue C et al. | β | 2017 | β |
| Downstream targets of GWAS-detected genes for breast, lung, and prostate and colon cancer converge to G1/S transition pathway. | Gorlova OY et al. | β | 2017 | β |
| Edited course of biomedical research: leaping forward with CRISPR. | Collins PJ et al. | β | 2017 | β |
| Endocrinology Meets Metabolomics: Achievements, Pitfalls, and Challenges. | Tokarz J et al. | β | 2017 | β |
| Evaluation of the interaction between genetic variants of GAD1 and miRNA in bipolar disorders. | Chung YE et al. | β | 2017 | β |
| Evidences of a New Psychobiotic Formulation on Body Composition and Anxiety. | Colica C et al. | β | 2017 | β |
| Expression of long non-coding RNAs in autoimmunity and linkage to enhancer function and autoimmune disease risk genetic variants. | Aune TM et al. | β | 2017 | β |
| Expression quantitative trait loci (eQTLs) in human placentas suggest developmental origins of complex diseases. | Peng S et al. | β | 2017 | β |
| Extracting Country-of-Origin from Electronic Health Records for Gene- Environment Studies as Part of the Epidemiologic Architecture for Genes Linked to Environment (EAGLE) Study. | Farber-Eger E et al. | β | 2017 | β |
| FIRE: functional inference of genetic variants that regulate gene expression. | Ioannidis NM et al. | β | 2017 | β |
| Functional Analysis of the Coronary Heart Disease Risk Locus on Chromosome 21q22. | Beaney KE et al. | β | 2017 | β |
| Functional classification of DNA variants by hybrid minigenes: Identification of 30 spliceogenic variants of BRCA2 exons 17 and 18. | Fraile-Bethencourt E et al. | β | 2017 | β |
| Gene co-expression network connectivity is an important determinant of selective constraint. | MΓ€hler N et al. | β | 2017 | β |
| Gene-nutrient interactions and susceptibility to human obesity. | Castillo JJ et al. | β | 2017 | β |
| Genetic-epigenetic interactions in cis: a major focus in the post-GWAS era. | Do C et al. | β | 2017 | β |
| Genetic polymorphisms and lung cancer risk: Evidence from meta-analyses and genome-wide association studies. | Liu C et al. | β | 2017 | β |
| Genetic polymorphisms of non-coding RNAs associated with increased head and neck cancer susceptibility: a systematic review and meta-analysis. | Pan W et al. | β | 2017 | β |
| Genetics of common complex diseases: a view from Iceland. | Arnar DO et al. | β | 2017 | β |
| Genetics of primary sclerosing cholangitis and pathophysiological implications. | Jiang X et al. | β | 2017 | β |
| Genetic variation and gene expression across multiple tissues and developmental stages in a nonhuman primate. | Jasinska AJ et al. | β | 2017 | β |
| Genetic-Variation-Driven Gene-Expression Changes Highlight Genes with Important Functions for Kidney Disease. | Ko YA et al. | β | 2017 | β |
| Genetic variation in long noncoding RNAs and the risk of nonalcoholic fatty liver disease. | Sookoian S et al. | β | 2017 | β |
| Genome-wide Analysis of STAT3-Mediated Transcription during Early Human Th17 Cell Differentiation. | Tripathi SK et al. | β | 2017 | β |
| Genome-wide association analysis for chronic venous disease identifies EFEMP1 and KCNH8 as susceptibility loci. | Ellinghaus E et al. | β | 2017 | β |
| Genome-wide association studies for reproductive seasonality traits in Rasa Aragonesa sheep breed. | Martinez-Royo A et al. | β | 2017 | β |
| Genome-Wide Association Study of Piglet Uniformity and Farrowing Interval. | Wang Y et al. | β | 2017 | β |
| Genome-wide estimation of heritability and its functional components for flowering, defense, ionomics, and developmental traits in a geographically diverse population of Arabidopsis thaliana. | Yang RC | β | 2017 | β |
| Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. | Justice AE et al. | β | 2017 | β |
| Human Demographic History Impacts Genetic Risk Prediction across Diverse Populations. | Martin AR et al. | β | 2017 | β |
| Human genetics as a model for target validation: finding new therapies for diabetes. | Thomsen SK et al. | β | 2017 | β |
| Identification and allelic dissection uncover roles of lncRNAs in secondary growth of Populus tomentosa. | Zhou D et al. | β | 2017 | β |
| Identification of a SjΓΆgren's syndrome susceptibility locus at OAS1 that influences isoform switching, protein expression, and responsiveness to type I interferons. | Li H et al. | β | 2017 | β |
| Identifying genes for neurobehavioural traits in rodents: progress and pitfalls. | Baud A et al. | β | 2017 | β |
| In Retrospect: A decade of shared genomic associations. | Manolio TA | β | 2017 | β |
| Ion channelopathies associated genetic variants as the culprit for sudden unexplained death. | Wang S et al. | β | 2017 | β |
| Is bisphenol A an environmental obesogen? | Legeay S et al. | β | 2017 | β |
| Large-scale identification of clinical and genetic predictors of motor progression in patients with newly diagnosed Parkinson's disease: a longitudinal cohort study and validation. | Latourelle JC et al. | β | 2017 | β |
| Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure. | Chen CH et al. | β | 2017 | β |
| Limited influence of germline genetic variation on all-cause mortality in women with early onset breast cancer: evidence from gene-based tests, single-marker regression, and whole-genome prediction. | Scannell Bryan M et al. | β | 2017 | β |
| Living in an adaptive world: Genomic dissection of the genus <i>Homo</i> and its immune response. | Quach H et al. | β | 2017 | β |
| Locally epistatic models for genome-wide prediction and association by importance sampling. | Akdemir D et al. | β | 2017 | β |
| Long Noncoding RNAs as Diagnostic and Therapeutic Targets in Type 2 Diabetes and Related Complications. | Leti F et al. | β | 2017 | β |
| Long noncoding RNAs in the pathogenesis of diabetic kidney disease: implications for novel therapeutic strategies. | Leti F et al. | β | 2017 | β |
| Matching phenotypes to whole genomes: Lessons learned from four iterations of the personal genome project community challenges. | Cai B et al. | β | 2017 | β |
| Missing heritability: is the gap closing? An analysis of 32 complex traits in the Lifelines Cohort Study. | Nolte IM et al. | β | 2017 | β |
| Multiple Gene-Environment Interactions on the Angiogenesis Gene-Pathway Impact Rectal Cancer Risk and Survival. | Sharafeldin N et al. | β | 2017 | β |
| Multi-scale chromatin state annotation using a hierarchical hidden Markov model. | Marco E et al. | β | 2017 | β |
| Niche harmony search algorithm for detecting complex disease associated high-order SNP combinations. | Tuo S et al. | β | 2017 | β |
| Novel genetic locus at MHC region for esophageal squamous cell carcinoma in Chinese populations. | Zhang P et al. | β | 2017 | β |
| On the association analysis of genome-sequencing data: A spatial clustering approach for partitioning the entire genome into nonoverlapping windows. | Loehlein Fier H et al. | β | 2017 | β |
| Pathways to understanding the genomic aetiology of osteoarthritis. | CibriΓ‘n Uhalte E et al. | β | 2017 | β |
| Polymorphisms in sex steroid receptors: From gene sequence to behavior. | Maney DL | β | 2017 | β |
| Potentially functional variants in lncRNAs are associated with breast cancer risk in a Chinese population. | Jiang Y et al. | β | 2017 | β |
| Predicting enhancer activity and variant impact using gkm-SVM. | Beer MA | β | 2017 | β |
| Predicting the impact of non-coding variants on DNA methylation. | Zeng H et al. | β | 2017 | β |
| Prediction of gene expression with cis-SNPs using mixed models and regularization methods. | Zeng P et al. | β | 2017 | β |
| Profiling RNA-Seq at multiple resolutions markedly increases the number of causal eQTLs in autoimmune disease. | Odhams CA et al. | β | 2017 | β |
| Rare mutations and potentially damaging missense variants in genes encoding fibrillar collagens and proteins involved in their production are candidates for risk for preterm premature rupture of membranes. | Modi BP et al. | β | 2017 | β |
| Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis. | Yao S et al. | β | 2017 | β |
| Rethinking ovarian cancer genomics: where genome-wide association studies stand? | Pinto R et al. | β | 2017 | β |
| Scrutinizing the Genetic Underpinnings of Bone Strength. | Rivadeneira F et al. | β | 2017 | β |
| SNPs, linkage disequilibrium, and chronic mountain sickness in Tibetan Chinese. | Buroker NE et al. | β | 2017 | β |
| SSGA and MSGA: two seed-growing algorithms for constructing collaborative subnetworks. | Ji X et al. | β | 2017 | β |
| Structural variants caused by <i>Alu</i> insertions are associated with risks for many human diseases. | Payer LM et al. | β | 2017 | β |
| Synthetic enhancer design by in silico compensatory evolution reveals flexibility and constraint in cis-regulation. | Barr KA et al. | β | 2017 | β |
| The impact of rare and low-frequency genetic variants in common disease. | Bomba L et al. | β | 2017 | β |
| The Role of Noncoding Genetic Variation in Isolated Orofacial Clefts. | Thieme F et al. | β | 2017 | β |
| The Three-Dimensional Organization of Mammalian Genomes. | Yu M et al. | β | 2017 | β |
| Transcriptional and Post-transcriptional Gene Regulation by Long Non-coding RNA. | Dykes IM et al. | β | 2017 | β |
| Transcriptional networks specifying homeostatic and inflammatory programs of gene expression in human aortic endothelial cells. | Hogan NT et al. | β | 2017 | β |
| Type 1 diabetes genome-wide association studies: not to be lost in translation. | Pociot F | β | 2017 | β |
| Whole genome sequencing in psychiatric disorders: the WGSPD consortium. | Sanders SJ et al. | β | 2017 | β |
| Widespread Allelic Heterogeneity in Complex Traits. | Hormozdiari F et al. | β | 2017 | β |