MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes.
paper
Cited
Public
- Authors
- Li, Yun; Willer, Cristen J; Ding, Jun; Scheet, Paul; Abecasis, Gonçalo R
- Year
- 2010
- Journal
- Genetic epidemiology
- PMID
- 21058334
- DOI
- 10.1002/gepi.20533
- PMCID
- PMC3175618
Genome-wide association studies (GWAS) can identify common alleles that contribute to complex disease susceptibility. Despite the large number of SNPs assessed in each study, the effects of most common SNPs must be evaluated indirectly using either genotyped markers or haplotypes thereof as proxies. We have previously implemented a computationally efficient Markov Chain framework for genotype imputation and haplotyping in the freely available MaCH software package. The approach describes sampled chromosomes as mosaics of each other and uses available genotype and shotgun sequence data to estimate unobserved genotypes and haplotypes, together with useful measures of the quality of these estimates. Our approach is already widely used to facilitate comparison of results across studies as well as meta-analyses of GWAS. Here, we use simulations and experimental genotypes to evaluate its accuracy and utility, considering choices of genotyping panels, reference panel configurations, and designs where genotyping is replaced with shotgun sequencing. Importantly, we show that genotype imputation not only facilitates cross study analyses but also increases power of genetic association studies. We show that genotype imputation of common variants using HapMap haplotypes as a reference is very accurate using either genome-wide SNP data or smaller amounts of data typical in fine-mapping studies. Furthermore, we show the approach is applicable in a variety of populations. Finally, we illustrate how association analyses of unobserved variants will benefit from ongoing advances such as larger HapMap reference panels and whole genome shotgun sequencing technologies.
ROC curve comparing two measures of data quality. For imputed SNPs on chromosome 14, where both imputed and actual genotypes were available, we evaluated the ability of two different measures of data quality (the estimated concordance between imputed and true genotypes and the estimated r2 between imputed and true genotypes) to discriminate between poor and well imputed SNPs. Both estimates of imputation quality are calculated without using the actual observed genotypes.
Imputation improves quality of LD estimates. For imputed SNPs on chromosome 14, the figure compares estimates of LD obtained by genotyping both SNPs (βResults from Actual Genotyping,β X axis) with estimates of LD obtained by imputing genotypes for both SNPs using markers on the 317K marker chip (βResults from Imputed Data,β Y axis, Top left), obtained by imputing genotypes for one of the SNPs (βResults from Imputed Data,β Y axis, Bottom Left) or obtained from the HapMap CEU panel (βResults from HapMap CEU,β Y axis, Top and Bottom Right).
Evaluation of imputation accuracy across HGDP panels. For each of 52 populations in the Human Genome Diversity Panel (HGDP) a set of 872 SNPs distributed evenly across 32 regions, each ~330 kb in length, was used to impute 992 other SNPs. The 992 imputed SNPs were located near the middle of each imputed region. Imputation was done using either the HapMap YRI, CEU, CHB+JPT, or a combination of three HapMap panels (first four panels, best panel is shaded in gray) or using the remaining HGDP samples as a reference. In each case, the proportion of correctly imputed alleles is tabulated. The figure is based on a re-analysis of data of Conrad et al. [2006].
Evaluation of imputation accuracy across HGDP panels. Genotypes for a set of 992 SNPs were imputed in the HGDP and then compared with actual genotypes. For each pair of true and imputed genotypes an r2 coefficient was calculated and averaged for each population. The best set of HapMap reference individuals for each population is shaded. The coverage obtained by using the best available tag SNP (rather than imputed genotypes) is overlaid in pink. See Figure 3 legend for further details.
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| Genome-Wide Association Meta-Analysis of Individuals of European Ancestry Identifies Suggestive Loci for Sodium Intake, Potassium Intake, and Their Ratio Measured from 24-Hour or Half-Day Urine Samples. | Kho M et al. | β | 2020 | β |
| Genome-wide association studies for methane emission and ruminal volatile fatty acids using Holstein cattle sequence data. | Jalil Sarghale A et al. | β | 2020 | β |
| Genome-Wide Association Study in Asians Identifies Novel Loci for High Myopia and Highlights a Nervous System Role in Its Pathogenesis. | Meguro A et al. | β | 2020 | β |
| Genome-wide association study of Alzheimer's disease CSF biomarkers in the EMIF-AD Multimodal Biomarker Discovery dataset. | Hong S et al. | β | 2020 | β |
| Genome-wide association study of antidepressant treatment resistance in a population-based cohort using health service prescription data and meta-analysis with GENDEP. | Wigmore EM et al. | β | 2020 | β |
| Genome-Wide Association Study of Metamizole-Induced Agranulocytosis in European Populations. | Cismaru AL et al. | β | 2020 | β |
| Genome-wide association study of rate of cognitive decline in Alzheimer's disease patients identifies novel genes and pathways. | Sherva R et al. | β | 2020 | β |
| Genome-wide association study of word reading: Overlap with risk genes for neurodevelopmental disorders. | Price KM et al. | β | 2020 | β |
| Genome-wide identification of genes regulating DNA methylation using genetic anchors for causal inference. | Hop PJ et al. | β | 2020 | β |
| Genome-wide meta-analysis of variant-by-diuretic interactions as modulators of lipid traits in persons of European and African ancestry. | de las Fuentes L et al. | β | 2020 | β |
| Genomic insights on the contribution of balancing selection and local adaptation to the long-term survival of a widespread living fossil tree, Cercidiphyllum japonicum. | Zhu S et al. | β | 2020 | β |
| Genotype phasing in pedigrees using whole-genome sequence data. | Blackburn AN et al. | β | 2020 | β |
| Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. | KlariΔ L et al. | β | 2020 | β |
| Inference of Chromosome-Length Haplotypes Using Genomic Data of Three or a Few More Single Gametes. | Li R et al. | β | 2020 | β |
| Inherited causes of clonal haematopoiesis in 97,691 whole genomes. | Bick AG et al. | β | 2020 | β |
| Investigating the accuracy of imputing autosomal variants in Nellore cattle using the ARS-UCD1.2 assembly of the bovine genome. | Hermisdorff IDC et al. | β | 2020 | β |
| Investigational Assay for Haplotype Phasing of the Huntingtin Gene. | Svrzikapa N et al. | β | 2020 | β |
| Large-scale analysis of acquired chromosomal alterations in non-tumor samples from patients with cancer. | Jakubek YA et al. | β | 2020 | β |
| Mapping Tumor-Specific Expression QTLs in Impure Tumor Samples. | Wilson DR et al. | β | 2020 | β |
| Monoamine and neuroendocrine gene-sets associate with frustration-based aggression in a gender-specific manner. | van Donkelaar MMJ et al. | β | 2020 | β |
| Multi-method genome- and epigenome-wide studies of inflammatory protein levels in healthy older adults. | Hillary RF et al. | β | 2020 | β |
| OPENMENDEL: a cooperative programming project for statistical genetics. | Zhou H et al. | β | 2020 | β |
| Partitioning heritability analyses unveil the genetic architecture of human brain multidimensional functional connectivity patterns. | Feng J et al. | β | 2020 | β |
| Phenome-based approach identifies RIC1-linked Mendelian syndrome through zebrafish models, biobank associations and clinical studies. | Unlu G et al. | β | 2020 | β |
| Pleiotropic loci underlying bone mineral density and bone size identified by a bivariate genome-wide association analysis. | Zhang H et al. | β | 2020 | β |
| Polygenic scores for schizophrenia and general cognitive ability: associations with six cognitive domains, premorbid intelligence, and cognitive composite score in individuals with a psychotic disorder and in healthy controls. | Engen MJ et al. | β | 2020 | β |
| Regulatory sites for splicing in human basal ganglia are enriched for disease-relevant information. | Guelfi S et al. | β | 2020 | β |
| Shared genetic background between children and adults with attention deficit/hyperactivity disorder. | Rovira P et al. | β | 2020 | β |
| Shared genetic etiology between obsessive-compulsive disorder, obsessive-compulsive symptoms in the population, and insulin signaling. | Bralten J et al. | β | 2020 | β |
| SNPs in lncRNA Regions and Breast Cancer Risk. | Suvanto M et al. | β | 2020 | β |
| Trans-ethnic meta-analysis of genome-wide association studies identifies maternal ITPR1 as a novel locus influencing fetal growth during sensitive periods in pregnancy. | Tekola-Ayele F et al. | β | 2020 | β |
| A genome-wide association study identifies new loci for factor VII and implicates factor VII in ischemic stroke etiology. | de Vries PS et al. | β | 2019 | β |
| A Genome Wide Association Study on plasma FV levels identified PLXDC2 as a new modifier of the coagulation process. | Thibord F et al. | β | 2019 | β |
| An average-case sublinear forward algorithm for the haploid Li and Stephens model. | Rosen YM et al. | β | 2019 | β |
| Assessing the potential for assisted gene flow using past introduction of Norway spruce in southern Sweden: Local adaptation and genetic basis of quantitative traits in trees. | Milesi P et al. | β | 2019 | β |
| Association between CD53 genetic polymorphisms and tuberculosis cases. | Jin HS et al. | β | 2019 | β |
| Association of Arsenic Exposure with Whole Blood DNA Methylation: An Epigenome-Wide Study of Bangladeshi Adults. | Demanelis K et al. | β | 2019 | β |
| Association of PPP2R1A with Alzheimer's disease and specific cognitive domains. | Miron J et al. | β | 2019 | β |
| Association Study of <i>ARMC9</i> Gene Variants with Vogt-Koyanagi-Harada Disease in Japanese Patients. | Ohno T et al. | β | 2019 | β |
| Characterizing rare and low-frequency height-associated variants in the Japanese population. | Akiyama M et al. | β | 2019 | β |
| Common and Rare Variants Genetic Association Analysis of Cigarettes per Day Among Ever-Smokers in Chronic Obstructive Pulmonary Disease Cases and Controls. | Lutz SM et al. | β | 2019 | β |
| Common variants in the <i>COL2A1</i> gene are associated with lattice degeneration of the retina in a Japanese population. | Okazaki S et al. | β | 2019 | β |
| Comparison and assessment of family- and population-based genotype imputation methods in large pedigrees. | Ullah E et al. | β | 2019 | β |
| Comparison of mitochondrial DNA variants detection using short- and long-read sequencing. | Alkanaq AN et al. | β | 2019 | β |
| Corrected QT Interval Prolongation in Psychopharmacological Treatment and Its Modulation by Genetic Variation. | Corponi F et al. | β | 2019 | β |
| Differential SLC6A4 methylation: a predictive epigenetic marker of adiposity from birth to adulthood. | Lillycrop KA et al. | β | 2019 | β |
| Efficient cross-trait penalized regression increases prediction accuracy in large cohorts using secondary phenotypes. | Chung W et al. | β | 2019 | β |
| Efficient estimation of grouped survival models. | Li Z et al. | β | 2019 | β |
| Estimation of DNA contamination and its sources in genotyped samples. | Zajac GJM et al. | β | 2019 | β |
| Evaluating the Accuracy of Imputation Methods in a Five-Way Admixed Population. | Schurz H et al. | β | 2019 | β |
| Evaluating the quality of the 1000 genomes project data. | Belsare S et al. | β | 2019 | β |
| Evidence of a Causal Association Between Cancer and Alzheimer's Disease: a Mendelian Randomization Analysis. | Seddighi S et al. | β | 2019 | β |
| Exploring effective approaches for haplotype block phasing. | Al Bkhetan Z et al. | β | 2019 | β |
| Exploring the underlying biology of intrinsic cardiorespiratory fitness through integrative analysis of genomic variants and muscle gene expression profiling. | Ghosh S et al. | β | 2019 | β |
| Finding the Optimal Imputation Strategy for Small Cattle Populations. | KorkuΔ P et al. | β | 2019 | β |
| Footprints of adaptive evolution revealed by whole Z chromosomes haplotypes in flycatchers. | Nadachowska-Brzyska K et al. | β | 2019 | β |
| Gene hunting with hidden Markov model knockoffs. | Sesia M et al. | β | 2019 | β |
| Genetic basis for plasma amino acid concentrations based on absolute quantification: a genome-wide association study in the Japanese population. | Imaizumi A et al. | β | 2019 | β |
| Genetic meta-analysis of diagnosed Alzheimer's disease identifies new risk loci and implicates AΞ², tau, immunity and lipid processing. | Kunkle BW et al. | β | 2019 | β |
| Genetic Overlap Between Alzheimer's Disease and Bipolar Disorder Implicates the MARK2 and VAC14 Genes. | Drange OK et al. | β | 2019 | β |
| Genetic risk factors identified in populations of European descent do not improve the prediction of osteoporotic fracture and bone mineral density in Chinese populations. | Li YM et al. | β | 2019 | β |
| Genetic variants in glutamine metabolic pathway genes predict cutaneous melanoma-specific survival. | Chen K et al. | β | 2019 | β |
| Genetic variants in the calcium signaling pathway genes are associated with cutaneous melanoma-specific survival. | Wang X et al. | β | 2019 | β |
| Genetic variants of calcium and vitamin D metabolism in kidney stone disease. | Howles SA et al. | β | 2019 | β |
| Genome and epigenome wide studies of neurological protein biomarkers in the Lothian Birth Cohort 1936. | Hillary RF et al. | β | 2019 | β |
| Genome-wide association reveals contribution of MRAS to painful temporomandibular disorder in males. | Smith SB et al. | β | 2019 | β |
| Genome-wide association studies identify polygenic effects for completed suicide in the Japanese population. | Otsuka I et al. | β | 2019 | β |
| Genome-Wide Association Study Detected Novel Susceptibility Genes for Schizophrenia and Shared Trans-Populations/Diseases Genetic Effect. | Ikeda M et al. | β | 2019 | β |
| Genome-wide association study of breakfast skipping links clock regulation with food timing. | Dashti HS et al. | β | 2019 | β |
| Genome-wide association study of treatment-resistance in depression and meta-analysis of three independent samples. | Fabbri C et al. | β | 2019 | β |
| Genome-wide association study suggests impact of chromosome 10 rs139401390 on kidney function in patients with coronary artery disease. | Schmitz B et al. | β | 2019 | β |
| Genome-wide identification of DNA methylation QTLs in whole blood highlights pathways for cardiovascular disease. | Huan T et al. | β | 2019 | β |
| Genomic data provide new insights on the demographic history and the extent of recent material transfers in Norway spruce. | Chen J et al. | β | 2019 | β |
| Genotype Imputation in Genome-Wide Association Studies. | Naj AC | β | 2019 | β |
| Genotyping by low-coverage whole-genome sequencing in intercross pedigrees from outbred founders: a cost-efficient approach. | Zan Y et al. | β | 2019 | β |
| Hypertensive APOL1 risk allele carriers demonstrate greater blood pressure reduction with angiotensin receptor blockade compared to low risk carriers. | Cunningham PN et al. | β | 2019 | β |
| Identification of a 1p21 independent functional variant for abdominal obesity. | Liu L et al. | β | 2019 | β |
| Identification of a Missense Variant in <i>MFSD12</i> Involved in Dilution of Phaeomelanin Leading to White or Cream Coat Color in Dogs. | HΓ©dan B et al. | β | 2019 | β |
| Identification of an emphysema-associated genetic variant near <i>TGFB2</i> with regulatory effects in lung fibroblasts. | Parker MM et al. | β | 2019 | β |
| Identification of Shared Genes Between Ischemic Stroke and Parkinson's Disease Using Genome-Wide Association Studies. | Lang W et al. | β | 2019 | β |
| Identifying Candidate Genetic Associations with MRI-Derived AD-Related ROI via Tree-Guided Sparse Learning. | Hao X et al. | β | 2019 | β |
| Improving Imputation Accuracy by Inferring Causal Variants in Genetic Studies. | Wu Y et al. | β | 2019 | β |
| Imputation accuracy of wheat genotyping-by-sequencing (GBS) data using barley and wheat genome references. | Alipour H et al. | β | 2019 | β |
| Increased High-Density Lipoprotein Levels Associated with Age-Related Macular Degeneration: Evidence from the EYE-RISK and European Eye Epidemiology Consortia. | Colijn JM et al. | β | 2019 | β |
| Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density. | Qiu C et al. | β | 2019 | β |
| Large-Scale Whole-Genome Sequencing of Three Diverse Asian Populations in Singapore. | Wu D et al. | β | 2019 | β |
| Low Smoking Exposure, the Adolescent Brain, and the Modulating Role of CHRNA5 Polymorphisms. | Chaarani B et al. | β | 2019 | β |
| Mendelian Randomization Analysis Reveals a Causal Influence of Circulating Sclerostin Levels on Bone Mineral Density and Fractures. | Zheng J et al. | β | 2019 | β |
| Mendelian randomization evaluation of causal effects of fibrinogen on incident coronary heart disease. | Ward-Caviness CK et al. | β | 2019 | β |
| Meta-Analysis of Genomewide Association Studies Reveals Genetic Variants for Hip Bone Geometry. | Hsu YH et al. | β | 2019 | β |
| Novel Risk Loci Identified in a Genome-Wide Association Study of Urolithiasis in a Japanese Population. | Tanikawa C et al. | β | 2019 | β |
| Odyssey: a semi-automated pipeline for phasing, imputation, and analysis of genome-wide genetic data. | Eller RJ et al. | β | 2019 | β |
| Off the street phasing (OTSP): no hassle haplotype phasing for molecular PGD applications. | Zeevi DA et al. | β | 2019 | β |
| On the differences between mega- and meta-imputation and analysis exemplified on the genetics of age-related macular degeneration. | Gorski M et al. | β | 2019 | β |
| Organophosphate Pesticide Exposure in Pregnancy in Association with Ultrasound and Delivery Measures of Fetal Growth. | Ferguson KK et al. | β | 2019 | β |
| Organophosphate Pesticide Metabolite Concentrations in Urine during Pregnancy and Offspring Nonverbal IQ at Age 6 Years. | Jusko TA et al. | β | 2019 | β |
| Parentage assignment with genotyping-by-sequencing data. | Whalen A et al. | β | 2019 | β |
| perfectphyloR: An R package for reconstructing perfect phylogenies. | Karunarathna CB et al. | β | 2019 | β |
| Phasing quality assessment in a brown layer population through family- and population-based software. | Frioni N et al. | β | 2019 | β |
| Phenotype Prediction and Genome-Wide Association Study Using Deep Convolutional Neural Network of Soybean. | Liu Y et al. | β | 2019 | β |
| Polygenic risk for psychiatric disorders correlates with executive function in typical development. | Schork AJ et al. | β | 2019 | β |
| Polymorphisms in CEP68 gene associated with risk of immediate selective reactions to non-steroidal anti-inflammatory drugs. | Perkins JR et al. | β | 2019 | β |
| Probabilistic ancestry maps: a method to assess and visualize population substructures in genetics. | Gaspar HA et al. | β | 2019 | β |
| Robust Score Tests With Missing Data in Genomics Studies. | Wong KY et al. | β | 2019 | β |
| Role of Immune Response, Inflammation, and Tumor Immune Response-Related Cytokines/Chemokines in Melanoma Progression. | Fang S et al. | β | 2019 | β |
| Sparse Convolutional Denoising Autoencoders for Genotype Imputation. | Chen J et al. | β | 2019 | β |
| Structured sparsity regularized multiple kernel learning for Alzheimer's disease diagnosis. | Peng J et al. | β | 2019 | β |
| System for Quality-Assured Data Analysis: Flexible, reproducible scientific workflows. | Fowler J et al. | β | 2019 | β |
| Target genes, variants, tissues and transcriptional pathways influencing human serum urate levels. | Tin A et al. | β | 2019 | β |
| The Challenge of Stratifying Obesity: Attempts in the Quebec Family Study. | de Toro-MartΓn J et al. | β | 2019 | β |
| The Role of Stressful Parenting and Mineralocorticoid Receptor Haplotypes on Social Development During Adolescence and Young Adulthood. | Endedijk HM et al. | β | 2019 | β |
| Trans-ethnic kidney function association study reveals putative causal genes and effects on kidney-specific disease aetiologies. | Morris AP et al. | β | 2019 | β |
| Two functional variants at 6p21.1 were associated with lean mass. | Pei YF et al. | β | 2019 | β |
| Variants in the fetal genome near pro-inflammatory cytokine genes on 2q13 associate with gestational duration. | Liu X et al. | β | 2019 | β |
| Accuracy of genotype imputation in Labrador Retrievers. | Friedrich J et al. | β | 2018 | β |
| Accurate and adaptive imputation of summary statistics in mixed-ethnicity cohorts. | Togninalli M et al. | β | 2018 | β |
| Accurate Genotype Imputation in Multiparental Populations from Low-Coverage Sequence. | Zheng C et al. | β | 2018 | β |
| A combined linkage, microarray and exome analysis suggests MAP3K11 as a candidate gene for left ventricular hypertrophy. | Silva CT et al. | β | 2018 | β |
| Advances in understanding the genetic basis of diabetic kidney disease. | Li M et al. | β | 2018 | β |
| Age-associated microRNA expression in human peripheral blood is associated with all-cause mortality and age-related traits. | Huan T et al. | β | 2018 | β |
| A genome-wide association study of corneal astigmatism: The CREAM Consortium. | Shah RL et al. | β | 2018 | β |
| A Genome-wide Expression Association Analysis Identifies Genes and Pathways Associated with Amyotrophic Lateral Sclerosis. | Du Y et al. | β | 2018 | β |
| A heuristic method for fast and accurate phasing and imputation of single-nucleotide polymorphism data in bi-parental plant populations. | Gonen S et al. | β | 2018 | β |
| A Longitudinal Imaging Genetics Study of Neuroanatomical Asymmetry in Alzheimer's Disease. | Wachinger C et al. | β | 2018 | β |
| Alterations in cholesterol metabolism-related genes in sporadic Alzheimer's disease. | Picard C et al. | β | 2018 | β |
| A Meta-Analysis of Genome-Wide Association Studies of Growth Differentiation Factor-15 Concentration in Blood. | Jiang J et al. | β | 2018 | β |
| A multi-locus genetic association test for a dichotomous trait and its secondary phenotype. | Zhang H et al. | β | 2018 | β |
| Analysis of genetic and nongenetic factors influencing triglycerides-lowering drug effects based on paired observations. | Xu Z et al. | β | 2018 | β |
| A One-Penny Imputed Genome from Next-Generation Reference Panels. | Browning BL et al. | β | 2018 | β |
| A Powerful Test for SNP Effects on Multivariate Binary Outcomes using Kernel Machine Regression. | Davenport CA et al. | β | 2018 | β |
| Assessing inter-component heterogeneity of biphasic uterine carcinosarcomas. | Liu Y et al. | β | 2018 | β |
| Assessment of genetic factor and depression interactions for asthma symptom severity in cohorts of childhood and elderly asthmatics. | Park HW et al. | β | 2018 | β |
| Assessment of the performance of hidden Markov models for imputation in animal breeding. | Whalen A et al. | β | 2018 | β |
| Association analysis of exome variants and refraction, axial length, and corneal curvature in a European-American population. | Vergara C et al. | β | 2018 | β |
| Associations of activated coagulation factor VII and factor VIIa-antithrombin levels with genome-wide polymorphisms and cardiovascular disease risk. | Olson NC et al. | β | 2018 | β |
| Associations of adult genetic risk scores for adiposity with childhood abdominal, liver and pericardial fat assessed by magnetic resonance imaging. | Monnereau C et al. | β | 2018 | β |
| A variant within the FTO confers susceptibility to diabetic nephropathy in Japanese patients with type 2 diabetes. | Taira M et al. | β | 2018 | β |
| CDK5RAP2 gene and tau pathophysiology in late-onset sporadic Alzheimer's disease. | Miron J et al. | β | 2018 | β |
| Coding variants in NOD-like receptors: An association study on risk and survival of colorectal cancer. | Huhn S et al. | β | 2018 | β |
| Co-occurring expression and methylation QTLs allow detection of common causal variants and shared biological mechanisms. | Pierce BL et al. | β | 2018 | β |
| Critical Issues in the Inclusion of Genetic and Epigenetic Information in Prevention and Intervention Trials. | Latendresse SJ et al. | β | 2018 | β |
| Dissociable influences of <i>APOE</i> Ξ΅4 and polygenic risk of AD dementia on amyloid and cognition. | Ge T et al. | β | 2018 | β |
| Effect of cytochrome CYP2C19 metabolizing activity on antidepressant response and side effects: Meta-analysis of data from genome-wide association studies. | Fabbri C et al. | β | 2018 | β |
| EFhd2/Swiprosin-1 is a common genetic determinator for sensation-seeking/low anxiety and alcohol addiction. | Mielenz D et al. | β | 2018 | β |
| Elucidating the genetic architecture of reproductive ageing in the Japanese population. | Horikoshi M et al. | β | 2018 | β |
| Evaluation and application of summary statistic imputation to discover new height-associated loci. | RΓΌeger S et al. | β | 2018 | β |
| Evolutionary significance of selected EDAR variants in Tibetan high-altitude adaptations. | Shao J et al. | β | 2018 | β |
| Exome-wide analyses identify low-frequency variant in CYP26B1 and additional coding variants associated with esophageal squamous cell carcinoma. | Chang J et al. | β | 2018 | β |
| Fast and Accurate Genome-Wide Association Test of Multiple Quantitative Traits. | Wu B et al. | β | 2018 | β |
| Functional variants in the <i>LRRK2</i> gene confer shared effects on risk for Crohn's disease and Parkinson's disease. | Hui KY et al. | β | 2018 | β |
| Generalization and fine mapping of red blood cell trait genetic associations to multi-ethnic populations: The PAGE Study. | Jo Hodonsky C et al. | β | 2018 | β |
| Genetic analysis of quantitative traits in the Japanese population links cell types to complex human diseases. | Kanai M et al. | β | 2018 | β |
| Genetic and genomic stability across lymphoblastoid cell line expansions. | Scheinfeldt LB et al. | β | 2018 | β |
| Genetic Architecture of the Cardiovascular Risk Proteome. | Benson MD et al. | β | 2018 | β |
| Genetic Contributions to The Association Between Adult Height and Head and Neck Cancer: A Mendelian Randomization Analysis. | Pastorino R et al. | β | 2018 | β |
| Genetic Determinants for Leisure-Time Physical Activity. | Lin X et al. | β | 2018 | β |
| Genetic disposition to inflammation and response to antidepressants in major depressive disorder. | Zwicker A et al. | β | 2018 | β |
| Genetic polymorphisms in <i>CDH1</i> are associated with endometrial carcinoma susceptibility among Chinese Han women. | Geng YH et al. | β | 2018 | β |
| Genetic variants in RORA and DNMT1 associated with cutaneous melanoma survival. | Li B et al. | β | 2018 | β |
| Genetic variants in the metzincin metallopeptidase family genes predict melanoma survival. | Xu Y et al. | β | 2018 | β |
| Genome-wide association studies and CRISPR/Cas9-mediated gene editing identify regulatory variants influencing eyebrow thickness in humans. | Wu S et al. | β | 2018 | β |
| Genome-wide association study identifies a novel locus for cannabis dependence. | Agrawal A et al. | β | 2018 | β |
| Genome Wide Association Study Identifies the <i>HMGCS2</i> Locus to be Associated With Chlorthalidone Induced Glucose Increase in Hypertensive Patients. | Singh S et al. | β | 2018 | β |
| Genome-wide association study of homocysteine in African Americans from the Jackson Heart Study, the Multi-Ethnic Study of Atherosclerosis, and the Coronary Artery Risk in Young Adults study. | Raffield LM 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 of offspring birth weight in 86β577 women identifies five novel loci and highlights maternal genetic effects that are independent of fetal genetics. | Beaumont RN et al. | β | 2018 | β |
| Genome-Wide Association Study of Serum Fructosamine and Glycated Albumin in Adults Without Diagnosed Diabetes: Results From the Atherosclerosis Risk in Communities Study. | Loomis SJ et al. | β | 2018 | β |
| Genome-wide association study suggests four variants influencing outcomes with ranibizumab therapy in exudative age-related macular degeneration. | Akiyama M et al. | β | 2018 | β |
| Genome-wide scan for circulating vascular adhesion protein-1 levels: MACROD2 as a potential transcriptional regulator of adipogenesis. | Chang YC et al. | β | 2018 | β |
| Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference. | Lin Y et al. | β | 2018 | β |
| Genotype Imputation from Large Reference Panels. | Das S et al. | β | 2018 | β |
| Genotype imputation performance of three reference panels using African ancestry individuals. | Vergara C et al. | β | 2018 | β |
| Genotype-phenotype association study via new multi-task learning model. | Huo Z et al. | β | 2018 | β |
| GWAS4D: multidimensional analysis of context-specific regulatory variant for human complex diseases and traits. | Huang D et al. | β | 2018 | β |
| GWAS of epigenetic aging rates in blood reveals a critical role for TERT. | Lu AT et al. | β | 2018 | β |
| High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. | Zhang P et al. | β | 2018 | β |
| Hybrid peeling for fast and accurate calling, phasing, and imputation with sequence data of any coverage in pedigrees. | Whalen A et al. | β | 2018 | β |
| Increased DNA methylation of SLFN12 in CD4+ and CD8+ T cells from multiple sclerosis patients. | Rhead B et al. | β | 2018 | β |
| Insights into respiratory disease through bioinformatics. | Hurgobin B et al. | β | 2018 | β |
| Integrated case-control and somatic-germline interaction analyses of melanoma susceptibility genes. | Yu Y et al. | β | 2018 | β |
| Joint study of two genome-wide association meta-analyses identified 20p12.1 and 20q13.33 for bone mineral density. | Pei YF et al. | β | 2018 | β |
| Linkage Disequilibrium Estimation in Low Coverage High-Throughput Sequencing Data. | Bilton TP et al. | β | 2018 | β |
| Longitudinal Genotype-Phenotype Association Study through Temporal Structure Auto-Learning Predictive Model. | Wang X et al. | β | 2018 | β |
| Long-range haplotype analysis of the malaria parasite receptor gene <i>ACKR1</i> in an East-African population. | Yin Q et al. | β | 2018 | β |
| Meta-analysis of Alzheimer's disease on 9,751 samples from Norway and IGAP study identifies four risk loci. | Witoelar A et al. | β | 2018 | β |
| Meta-analysis of genome-wide association studies for cattle stature identifies common genes that regulate body size in mammals. | Bouwman AC et al. | β | 2018 | β |
| Meta-Analysis of Genome-Wide Association Studies Identifies Novel Functional CpG-SNPs Associated with Bone Mineral Density at Lumbar Spine. | Qiu C et al. | β | 2018 | β |
| Moderating effect of mode of delivery on the genetics of intelligence: Explorative genome-wide analyses in ALSPAC. | SmajlagiΔ D et al. | β | 2018 | β |
| Neurobiological substrates underlying the effect of genomic risk for depression on the conversion of amnestic mild cognitive impairment. | Xu J et al. | β | 2018 | β |
| New insights into the pharmacogenomics of antidepressant response from the GENDEP and STAR*D studies: rare variant analysis and high-density imputation. | Fabbri C et al. | β | 2018 | β |
| Novel risk genes identified in a genome-wide association study for coronary artery disease in patients with type 1 diabetes. | Charmet R et al. | β | 2018 | β |
| Partitioning Phenotypic Variance Due to Parent-of-Origin Effects Using Genomic Relatedness Matrices. | Laurin C et al. | β | 2018 | β |
| Pedigree Selection and Information Content. | Vardarajan BN et al. | β | 2018 | β |
| Pleiotropic effects of n-6 and n-3 fatty acid-related genetic variants on circulating hemostatic variables. | Weng LC et al. | β | 2018 | β |
| Polygenic risk score of shorter telomere length and risk of depression and anxiety in women. | Chang SC et al. | β | 2018 | β |
| Polygenic Risk Score Prediction of Alcohol Dependence Symptoms Across Population-Based and Clinically Ascertained Samples. | Savage JE et al. | β | 2018 | β |
| Quantitative trait loci identification for brain endophenotypes via new additive model with random networks. | Wang X et al. | β | 2018 | β |
| rSNPBase 3.0: an updated database of SNP-related regulatory elements, element-gene pairs and SNP-based gene regulatory networks. | Guo L et al. | β | 2018 | β |
| Screening for gene-environment (GΓE) interaction using omics data from exposed individuals: an application to gene-arsenic interaction. | Argos M et al. | β | 2018 | β |
| Strategies for phasing and imputation in a population isolate. | Herzig AF et al. | β | 2018 | β |
| Systems biology and inΒ vitro validation identifies family with sequence similarity 129 member AΒ (FAM129A) as an asthma steroid response modulator. | McGeachie MJ et al. | β | 2018 | β |
| The present and future of de novo whole-genome assembly. | Sohn JI et al. | β | 2018 | β |
| Trans-ethnic analysis of metabochip data identifies two new loci associated with BMI. | Gong J et al. | β | 2018 | β |
| Unlocking the diversity of genebanks: whole-genome marker analysis of Swiss bread wheat and spelt. | MΓΌller T et al. | β | 2018 | β |
| User considerations in assessing pharmacogenomic tests and their clinical support tools. | Mukerjee G et al. | β | 2018 | β |
| Using Gene Genealogies to Localize Rare Variants Associated with Complex Traits in Diploid Populations. | Karunarathna CB et al. | β | 2018 | β |
| Using imputed genotype data in the joint score tests for genetic association and gene-environment interactions in case-control studies. | Song M et al. | β | 2018 | β |
| Using Y-Chromosomal Haplogroups in Genetic Association Studies and Suggested Implications. | Erzurumluoglu AM et al. | β | 2018 | β |
| Validation of genotype imputation in Southeast Asian populations and the effect of single nucleotide polymorphism annotation on imputation outcome. | Lert-Itthiporn W et al. | β | 2018 | β |
| 1000 Genomes-based meta-analysis identifies 10 novel loci for kidney function. | Gorski M et al. | β | 2017 | β |
| 10 Years of GWAS Discovery: Biology, Function, and Translation. | Visscher PM et al. | β | 2017 | β |
| 2SNP heritability and effects of genetic variants for neutrophil-to-lymphocyte and platelet-to-lymphocyte ratio. | Lin BD et al. | β | 2017 | β |
| A Bayesian mathematical model of motor and cognitive outcomes in Parkinson's disease. | Hayete B et al. | β | 2017 | β |
| A comparison of different algorithms for phasing haplotypes using Holstein cattle genotypes and pedigree data. | Miar Y et al. | β | 2017 | β |
| A comprehensive survey of genetic variation in 20,691 subjects from four large cohorts. | LindstrΓΆm S et al. | β | 2017 | β |
| A genetic association study of CSMD1 and CSMD2 with cognitive function. | Athanasiu L et al. | β | 2017 | β |
| A Genome-Wide Association Study of IVGTT-Based Measures of First-Phase Insulin Secretion Refines the Underlying Physiology of Type 2 Diabetes Variants. | Wood AR et al. | β | 2017 | β |
| A hybrid method for the imputation of genomic data in livestock populations. | AntolΓn R et al. | β | 2017 | β |
| A model-based approach to characterize individual inbreeding at both global and local genomic scales. | Druet T et al. | β | 2017 | β |
| A POWERFUL METHOD FOR INCLUDING GENOTYPE UNCERTAINTY IN TESTS OF HARDY-WEINBERG EQUILIBRIUM. | Beck A et al. | β | 2017 | β |
| Arc Requires PSD95 for Assembly into Postsynaptic Complexes Involved with Neural Dysfunction and Intelligence. | FernΓ‘ndez E et al. | β | 2017 | β |
| Association analyses of East Asian individuals and trans-ancestry analyses with European individuals reveal new loci associated with cholesterol and triglyceride levels. | Spracklen CN et al. | β | 2017 | β |
| Association analysis identifies 65 new breast cancer risk loci. | Michailidou K et al. | β | 2017 | β |
| Association and interaction effects of Alzheimer's disease-associated genes and lifestyle on cognitive aging in older adults in a Taiwanese population. | Lin E et al. | β | 2017 | β |
| Association Between Oxytocin Receptor Genotype, Maternal Care, and Eating Disorder Behaviours in a Community Sample of Women. | Micali N et al. | β | 2017 | β |
| Association of genetic variation in the tachykinin receptor 3 locus with hot flashes and night sweats in the Women's Health Initiative Study. | Crandall CJ et al. | β | 2017 | β |
| Association of SIX1/SIX6 locus polymorphisms with regional circumpapillary retinal nerve fibre layer thickness: The Nagahama study. | Yoshikawa M et al. | β | 2017 | β |
| Association of timing of menarche with depressive symptoms and depression in adolescence: Mendelian randomisation study. | Sequeira ME et al. | β | 2017 | β |
| Building a genetic risk model for bipolar disorder from genome-wide association data with random forest algorithm. | Chuang LC et al. | β | 2017 | β |
| Characterizing Genetic Susceptibility to Breast Cancer in Women of African Ancestry. | Feng Y et al. | β | 2017 | β |
| Chromosome-Range Whole-Genome High-Throughput Experimental Haplotyping by Single-Chromosome Microdissection. | Ma L et al. | β | 2017 | β |
| Clinical Evidence Supports a Protective Role for CXCL5 in Coronary Artery Disease. | Ravi S et al. | β | 2017 | β |
| CNV-association meta-analysis in 191,161 European adults reveals new loci associated with anthropometric traits. | MacΓ© A et al. | β | 2017 | β |
| Common variants near IKZF1 are associated with primary SjΓΆgren's syndrome in Han Chinese. | Qu S et al. | β | 2017 | β |
| Common variants of T-cells contribute differently to phenotypic variation in sarcoidosis. | Rivera NV et al. | β | 2017 | β |
| Comparison of HapMap and 1000 Genomes Reference Panels in a Large-Scale Genome-Wide Association Study. | de Vries PS et al. | β | 2017 | β |
| Comprehensive analysis of the association between UBAC2 polymorphisms and BehΓ§et's disease in a Japanese population. | Yamazoe K et al. | β | 2017 | β |
| Deciphering the genetic control of gene expression following Mycobacterium leprae antigen stimulation. | Manry J et al. | β | 2017 | β |
| Detection of genetic loci associated with plasma fetuin-A: a meta-analysis of genome-wide association studies from the CHARGE Consortium. | Jensen MK et al. | β | 2017 | β |
| Discovery and fine-mapping of adiposity loci using high density imputation of genome-wide association studies in individuals of African ancestry: African Ancestry Anthropometry Genetics Consortium. | Ng MCY et al. | β | 2017 | β |
| Discovery and fine-mapping of loci associated with MUFAs through trans-ethnic meta-analysis in Chinese and European populations. | Hu Y et al. | β | 2017 | β |
| Endophenotype best practices. | Iacono WG et al. | β | 2017 | β |
| Estimation of kinship coefficient in structured and admixed populations using sparse sequencing data. | Dou J et al. | β | 2017 | β |
| Extending the use of GWAS data by combining data from different genetic platforms. | van Iperen EP et al. | β | 2017 | β |
| Gene-based genome-wide association study identified 19p13.3 for lean body mass. | Ran S et al. | β | 2017 | β |
| GeneImp: Fast Imputation to Large Reference Panels Using Genotype Likelihoods from Ultralow Coverage Sequencing. | Spiliopoulou A et al. | β | 2017 | β |
| Genetic associations with lipoprotein subfraction measures differ by ethnicity in the multi-ethnic study of atherosclerosis (MESA). | Wang Z et al. | β | 2017 | β |
| Genetic variants associated with physical performance and anthropometry in old age: a genome-wide association study in the ilSIRENTE cohort. | Heckerman D et al. | β | 2017 | β |
| Genetic Variants Associated With Uncontrolled Blood Pressure onΒ Thiazide Diuretic/Ξ²-Blocker Combination Therapy in the PEAR (Pharmacogenomic Evaluation of Antihypertensive Responses)Β and INVEST (International Verapamil-SR Trandolapril Study) Trials. | Magvanjav O et al. | β | 2017 | β |
| Genetic variants in the integrin signaling pathway genes predict cutaneous melanoma survival. | Li H et al. | β | 2017 | β |
| Genetic Variants in WNT2B and BTRC Predict Melanoma Survival. | Shi Q et al. | β | 2017 | β |
| Genetic variants of PDGF signaling pathway genes predict cutaneous melanoma survival. | Li H et al. | β | 2017 | β |
| Genome- and CD4+ T-cell methylome-wide association study of circulating trimethylamine-N-oxide in the Genetics of Lipid Lowering Drugs and Diet Network (GOLDN). | Aslibekyan S et al. | β | 2017 | β |
| Genome-wide analysis identifies an african-specific variant in SEMA4D associated with body mass index. | Chen G et al. | β | 2017 | β |
| GENomE wide analysis of sotalol-induced IKr inhibition during ventricular REPOLarization, "GENEREPOL study": Lack of common variants with large effect sizes. | Salem JE et al. | β | 2017 | β |
| Genome-Wide and Gene-Based Meta-Analyses Identify Novel Loci Influencing Blood Pressure Response to Hydrochlorothiazide. | Salvi E 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 of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. | Jain D et al. | β | 2017 | β |
| Genomewide Association Scan of a Mortality Associated Endophenotype for a Long and Healthy Life in the Long Life Family Study. | Singh J et al. | β | 2017 | β |
| Genome-Wide Association Shows thatΒ Pigmentation Genes Play a Role in SkinΒ Aging. | Law MH et al. | β | 2017 | β |
| Genome-Wide Association Studies of a Broad Spectrum of Antisocial Behavior. | Tielbeek JJ et al. | β | 2017 | β |
| Genome-wide association study identifies 112 new loci for body mass index in the Japanese population. | Akiyama M et al. | β | 2017 | β |
| Genome-Wide Association Study of Blood Pressure Traits by Hispanic/Latino Background: the Hispanic Community Health Study/Study of Latinos. | Sofer T et al. | β | 2017 | β |
| Genome-wide association study of facial emotion recognition in children and association with polygenic risk for mental health disorders. | Coleman JRI et al. | β | 2017 | β |
| Genome-wide association study of red blood cell traits in Hispanics/Latinos: The Hispanic Community Health Study/Study of Latinos. | Hodonsky CJ et al. | β | 2017 | β |
| Genome-wide Association Study of Susceptibility to Particulate Matter-Associated QT Prolongation. | Gondalia R et al. | β | 2017 | β |
| Genome-wide association study to identify variants associated with acute severe vaso-occlusive pain in sickle cell anemia. | Chaturvedi S et al. | β | 2017 | β |
| Genome-wide association study with additional genetic and post-transcriptional analyses reveals novel regulators of plasma factor XI levels. | Sennblad B et al. | β | 2017 | β |
| Genome-wide association test of multiple continuous traits using imputed SNPs. | Wu B et al. | β | 2017 | β |
| Genome-Wide Gene-Potassium Interaction Analyses on Blood Pressure: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity). | Li C et al. | β | 2017 | β |
| Genome-wide physical activity interactions in adiposity - A meta-analysis of 200,452 adults. | Graff M et al. | β | 2017 | β |
| Genomic variants at 20p11 associated with body fat mass in the European population. | Pei YF et al. | β | 2017 | β |
| Genotype Calling from Population-Genomic Sequencing Data. | Maruki T et al. | β | 2017 | β |
| Genotype Imputation To Improve the Cost-Efficiency of Genomic Selection in Farmed Atlantic Salmon. | Tsai HY et al. | β | 2017 | β |
| Germline Mutations in the Kallikrein 6 Region and Predisposition for Aggressive Prostate Cancer. | Briollais L et al. | β | 2017 | β |
| GLRB allelic variation associated with agoraphobic cognitions, increased startle response and fear network activation: a potential neurogenetic pathway to panic disorder. | Deckert J et al. | β | 2017 | β |
| Glutamatergic and GABAergic gene sets in attention-deficit/hyperactivity disorder: association to overlapping traits in ADHD and autism. | Naaijen J et al. | β | 2017 | β |
| GWAS Identifies New Loci for Painful Temporomandibular Disorder: Hispanic Community Health Study/Study of Latinos. | Sanders AE et al. | β | 2017 | β |
| Haplotype-based stratification of Huntington's disease. | Chao MJ et al. | β | 2017 | β |
| Haplotype Inference. | Song S et al. | β | 2017 | β |
| HAPRAP: a haplotype-based iterative method for statistical fine mapping using GWAS summary statistics. | Zheng J et al. | β | 2017 | β |
| Heritability and GWAS Studies for Monocyte-Lymphocyte Ratio. | Lin BD et al. | β | 2017 | β |
| High-resolution mapping of <i>cis</i>-regulatory variation in budding yeast. | Kita R et al. | β | 2017 | β |
| Identification of ten variants associated with risk of estrogen-receptor-negative breast cancer. | Milne RL et al. | β | 2017 | β |
| Identifying tagging SNPs for African specific genetic variation from the African Diaspora Genome. | Johnston HR et al. | β | 2017 | β |
| Implication of the APP Gene in Intellectual Abilities. | Myrum C et al. | β | 2017 | β |
| Improved imputation accuracy of rare and low-frequency variants using population-specific high-coverage WGS-based imputation reference panel. | Mitt M et al. | β | 2017 | β |
| Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels. | Zhou W et al. | β | 2017 | β |
| Inbred Strain Variant Database (ISVdb): A Repository for Probabilistically Informed Sequence Differences Among the Collaborative Cross Strains and Their Founders. | Oreper D et al. | β | 2017 | β |
| Inherited variation in circadian rhythm genes and risks of prostate cancer and three other cancer sites in combined cancer consortia. | Gu F et al. | β | 2017 | β |
| Integrated genome-wide analysis of expression quantitative trait loci aids interpretation of genomic association studies. | Joehanes R et al. | β | 2017 | β |
| Integrating Genome-Wide Association and eQTLs Studies Identifies the Genes and Gene Sets Associated with Diabetes. | Liang X et al. | β | 2017 | β |
| Integration of Population-Level Genotype Data with Functional Annotation Reveals Over-Representation of Long Noncoding RNAs at Ovarian Cancer Susceptibility Loci. | Reid BM et al. | β | 2017 | β |
| Interaction of the GCKR and A1CF loci with alcohol consumption to influence the risk of gout. | Rasheed H et al. | β | 2017 | β |
| Leveraging cell type specific regulatory regions to detect SNPs associated with tissue factor pathway inhibitor plasma levels. | Dennis J et al. | β | 2017 | β |
| Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure. | Chen CH et al. | β | 2017 | β |
| LinkImputeR: user-guided genotype calling and imputation for non-model organisms. | Money D et al. | β | 2017 | β |
| Longitudinal Genotype-Phenotype Association Study via Temporal Structure Auto-Learning Predictive Model. | Wang X et al. | β | 2017 | β |
| <i>Trans</i>-ancestry Fine Mapping and Molecular Assays Identify Regulatory Variants at the <i>ANGPTL8</i> HDL-C GWAS Locus. | Cannon ME et al. | β | 2017 | β |
| Mapping of 79 loci for 83 plasma protein biomarkers in cardiovascular disease. | Folkersen L et al. | β | 2017 | β |
| Meta-analysis identifies five novel loci associated with endometriosis highlighting key genes involved in hormone metabolism. | Sapkota Y et al. | β | 2017 | β |
| Meta-analysis of sequence-based association studies across three cattle breeds reveals 25 QTL for fat and protein percentages in milk at nucleotide resolution. | Pausch H et al. | β | 2017 | β |
| Multiethnic genome-wide meta-analysis of ectopic fat depots identifies loci associated with adipocyte development and differentiation. | Chu AY et al. | β | 2017 | β |
| Multi-SNP Haplotype Analysis Methods for Association Analysis. | Stram DO | β | 2017 | β |
| Neuroimaging genetic analyses of novel candidate genes associated with reading and language. | Gialluisi A et al. | β | 2017 | β |
| New statistical methods for estimation of recombination fractions in F<sub>2</sub> population. | Tan YD et al. | β | 2017 | β |
| Omics Informatics: From Scattered Individual Software Tools to Integrated Workflow Management Systems. | Ma T et al. | β | 2017 | β |
| Pharmacogenetic study of long-term response to interferon-Ξ² treatment in multiple sclerosis. | Clarelli F et al. | β | 2017 | β |
| Polymorphisms in Renal Ammonia Metabolism Genes Correlate With 24-Hour Urine pH. | Canales BK et al. | β | 2017 | β |
| PreCimp: Pre-collapsing imputation approach increases imputation accuracy of rare variants in terms of collapsed variables. | Kim YJ et al. | β | 2017 | β |
| Predicting attention-deficit/hyperactivity disorder severity from psychosocial stress and stress-response genes: a random forest regression approach. | van der Meer D et al. | β | 2017 | β |
| Predicting hair cortisol levels with hair pigmentation genes: a possible hair pigmentation bias. | Neumann A et al. | β | 2017 | β |
| Prenatal stress exposure, oxytocin receptor gene (OXTR) methylation, and child autistic traits: The moderating role of OXTR rs53576 genotype. | Rijlaarsdam J et al. | β | 2017 | β |
| Role of 108 schizophrenia-associated loci in modulating psychopathological dimensions in schizophrenia and bipolar disorder. | Fabbri C et al. | β | 2017 | β |
| Serum magnesium and the risk of prediabetes: a population-based cohort study. | Kieboom BCT et al. | β | 2017 | β |
| Single-nucleotide polymorphisms are associated with cognitive decline at Alzheimer's disease conversion within mild cognitive impairment patients. | Lee E et al. | β | 2017 | β |
| Statin-induced expression change of INSIG1 in lymphoblastoid cell lines correlates with plasma triglyceride statin response in a sex-specific manner. | Theusch E et al. | β | 2017 | β |
| The FUT2 secretor variant p.Trp154Ter influences serum vitamin B12 concentration via holo-haptocorrin, but not holo-transcobalamin, and is associated with haptocorrin glycosylation. | Velkova A et al. | β | 2017 | β |
| The Molecular Revolution in Cutaneous Biology: The Era of Genome-Wide Association Studies and Statistical, BigΒ Data, and Computational Topics. | Anbunathan H et al. | β | 2017 | β |
| The possible role of chromosome X variability in hypertensive familiarity. | Ciccarelli M et al. | β | 2017 | β |
| The utility of empirically assigning ancestry groups in cross-population genetic studies of addiction. | Peterson RE et al. | β | 2017 | β |
| Transethnic meta-analysis identifies <i>GSDMA</i> and <i>PRDM1</i> as susceptibility genes to systemic sclerosis. | Terao C et al. | β | 2017 | β |
| Traumatic Stress Interacts With Bipolar Disorder Genetic Risk to Increase Risk for Suicide Attempts. | Wilcox HC et al. | β | 2017 | β |
| Type 2 Diabetes Genetic Variants and Risk of Diabetic Retinopathy. | Chong YH et al. | β | 2017 | β |
| Using Genetic Variation to Explore the Causal Effect of Maternal Pregnancy Adiposity on Future Offspring Adiposity: A Mendelian Randomisation Study. | Richmond RC et al. | β | 2017 | β |
| A BAYESIAN GRAPHICAL MODEL FOR GENOME-WIDE ASSOCIATION STUDIES (GWAS). | Briollais L et al. | β | 2016 | β |
| A Common Polymorphism in HIBCH Influences Methylmalonic Acid Concentrations in Blood Independently of Cobalamin. | Molloy AM et al. | β | 2016 | β |
| A Common Variant at the 14q32 Endometrial Cancer Risk Locus Activates AKT1 through YY1 Binding. | Painter JN et al. | β | 2016 | β |
| A comprehensive genome-wide analysis of melanoma Breslow thickness identifies interaction between CDC42 and SCIN genetic variants. | Vaysse A et al. | β | 2016 | β |
| A computational method for genotype calling in family-based sequencing data. | Chang LC et al. | β | 2016 | β |
| Age at menarche and age at natural menopause in East Asian women: a genome-wide association study. | Shi J et al. | β | 2016 | β |
| A genome-wide association meta-analysis of diarrhoeal disease in young children identifies FUT2 locus and provides plausible biological pathways. | Bustamante M et al. | β | 2016 | β |
| A genome-wide association meta-analysis on apolipoprotein A-IV concentrations. | Lamina C et al. | β | 2016 | β |
| A genome-wide association study in multiple system atrophy. | Sailer A et al. | β | 2016 | β |
| Air pollution and diabetes association: Modification by type 2 diabetes genetic risk score. | Eze IC et al. | β | 2016 | β |
| A meta-analysis of 120 246 individuals identifies 18 new loci for fibrinogen concentration. | de Vries PS et al. | β | 2016 | β |
| An accurate clone-based haplotyping method by overlapping pool sequencing. | Li C et al. | β | 2016 | β |
| An Adaptive Fisher's Combination Method for Joint Analysis of Multiple Phenotypes in Association Studies. | Liang X et al. | β | 2016 | β |
| Analysis of Genomic Regions Associated With Coronary Artery Disease Reveals Continent-Specific Single Nucleotide Polymorphisms in North African Populations. | Zanetti D et al. | β | 2016 | β |
| Analysis of Heritability Using Genome-Wide Data. | Hall JB et al. | β | 2016 | β |
| An Empirical Comparison of Joint and Stratified Frameworks for Studying G Γ E Interactions: Systolic Blood Pressure and Smoking in the CHARGE Gene-Lifestyle Interactions Working Group. | Sung YJ et al. | β | 2016 | β |
| An intergenic risk locus containing an enhancer deletion in 2q35 modulates breast cancer risk by deregulating IGFBP5 expression. | Wyszynski A et al. | β | 2016 | β |
| Application of computational methods in genetic study of inflammatory bowel disease. | Li J et al. | β | 2016 | β |
| Application of genotyping by sequencing technology to a variety of crop breeding programs. | Kim C et al. | β | 2016 | β |
| A reference panel of 64,976 haplotypes for genotype imputation. | McCarthy S et al. | β | 2016 | β |
| Ascertainment bias from imputation methods evaluation in wheat. | Brandariz SP et al. | β | 2016 | β |
| A simple yet accurate correction for winner's curse can predict signals discovered in much larger genome scans. | Bigdeli TB et al. | β | 2016 | β |
| Assessing the Cumulative Contribution of New and Established Common Genetic Risk Factors to Early-Onset Prostate Cancer. | Lange EM et al. | β | 2016 | β |
| Assessing the role of insulin-like growth factors and binding proteins in prostate cancer using Mendelian randomization: Genetic variants as instruments for circulating levels. | Bonilla C et al. | β | 2016 | β |
| Assignment of Functional Relevance to Genes at Type 2 Diabetes-Associated Loci Through Investigation of Ξ²-Cell Mass Deficits. | O'Hare EA et al. | β | 2016 | β |
| Association of 3q13.32 variants with hip trochanter and intertrochanter bone mineral density identified by a genome-wide association study. | Pei YF et al. | β | 2016 | β |
| Association of the IGF1 gene with fasting insulin levels. | Willems SM et al. | β | 2016 | β |
| Associations of genetic risk scores based on adult adiposity pathways with childhood growth and adiposity measures. | Monnereau C et al. | β | 2016 | β |
| Associations of genetic variants for adult lipid levels with lipid levels in children. The Generation R Study. | Latsuzbaia A et al. | β | 2016 | β |
| A STATISTICAL MODEL TO ASSESS (ALLELE-SPECIFIC) ASSOCIATIONS BETWEEN GENE EXPRESSION AND EPIGENETIC FEATURES USING SEQUENCING DATA. | Rashid NU et al. | β | 2016 | β |
| Bias Characterization in Probabilistic Genotype Data and Improved Signal Detection with Multiple Imputation. | Palmer C et al. | β | 2016 | β |
| Clinical Features and HLA Association of 5-Aminosalicylate (5-ASA)-induced Nephrotoxicity in Inflammatory Bowel Disease. | Heap GA et al. | β | 2016 | β |
| Common genetic variation and survival after colorectal cancer diagnosis: a genome-wide analysis. | Phipps AI et al. | β | 2016 | β |
| Common Genetic Variation in CYP17A1 and Response to Abiraterone Acetate in Patients with Metastatic Castration-Resistant Prostate Cancer. | Binder M et al. | β | 2016 | β |
| Common variants in DRD2 are associated with sleep duration: the CARe consortium. | Cade BE et al. | β | 2016 | β |
| Comparing performance of modern genotype imputation methods in different ethnicities. | Roshyara NR et al. | β | 2016 | β |
| Comparison of Cox Model Methods in A Low-dimensional Setting with Few Events. | Ojeda FM et al. | β | 2016 | β |
| Comparison of haplotype-based statistical tests for disease association with rare and common variants. | Datta AS et al. | β | 2016 | β |
| Comprehensive promoter level expression quantitative trait loci analysis of the human frontal lobe. | Blauwendraat C et al. | β | 2016 | β |
| Conserved Genetic Architecture Underlying Individual Recombination Rate Variation in a Wild Population of Soay Sheep (Ovis aries). | Johnston SE et al. | β | 2016 | β |
| Coverage recommendation for genotyping analysis of highly heterologous species using next-generation sequencing technology. | Song K et al. | β | 2016 | β |
| CYP24A1 variant modifies the association between use of oestrogen plus progestogen therapy and colorectal cancer risk. | Garcia-Albeniz X et al. | β | 2016 | β |
| Data supporting the high-accuracy haplotype imputation using unphased genotype data as the references. | Li W et al. | β | 2016 | β |
| DNA methylation in lung cells is associated with asthma endotypes and genetic risk. | Nicodemus-Johnson J et al. | β | 2016 | β |
| DNA methylation patterns associated with oxidative stress in an ageing population. | Hedman Γ K et al. | β | 2016 | β |
| Endometrial vezatin and its association with endometriosis risk. | Holdsworth-Carson SJ et al. | β | 2016 | β |
| Evaluation of power of the Illumina HumanOmni5M-4v1 BeadChip to detect risk variants for human complex diseases. | Xing C et al. | β | 2016 | β |
| Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. | Wang X et al. | β | 2016 | β |
| Exploring the Major Sources and Extent of Heterogeneity in a Genome-Wide Association Meta-Analysis. | Pei YF et al. | β | 2016 | β |
| Family-based approaches: design, imputation, analysis, and beyond. | Wijsman EM | β | 2016 | β |
| FAPI: Fast and accurate P-value Imputation for genome-wide association study. | Kwan JS et al. | β | 2016 | β |
| Fast and accurate long-range phasing in a UK Biobank cohort. | Loh PR et al. | β | 2016 | β |
| Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese. | Xie J et al. | β | 2016 | β |
| Fine-Mapping of Common Genetic Variants Associated with Colorectal Tumor Risk Identified Potential Functional Variants. | Du M et al. | β | 2016 | β |
| Full-length nucleotide sequence of ERMAP alleles encoding Scianna (SC) antigens. | Srivastava K et al. | β | 2016 | β |
| Full-length nucleotide sequences of 30 common SLC44A2 alleles encoding human neutrophil antigen-3. | Chen Q et al. | β | 2016 | β |
| Gene Expression Differences Between Offspring of Long-Lived Individuals and Controls in Candidate Longevity Regions: Evidence for PAPSS2 as a Longevity Gene. | Yerges-Armstrong LM et al. | β | 2016 | β |
| Gene-set and multivariate genome-wide association analysis of oppositional defiant behavior subtypes in attention-deficit/hyperactivity disorder. | Aebi M et al. | β | 2016 | β |
| Genetic analysis of the aquaporin-4 gene for anti-AQP4 antibody-positive neuromyelitis optica in a Japanese population. | Ogasawara M et al. | β | 2016 | β |
| Genetic association and stress mediated down-regulation in trabecular meshwork implicates MPP7 as a novel candidate gene in primary open angle glaucoma. | Vishal M et al. | β | 2016 | β |
| Genetic association of long-chain acyl-CoA synthetase 1 variants with fasting glucose, diabetes, and subclinical atherosclerosis. | Manichaikul A et al. | β | 2016 | β |
| Genetic characteristics of inflammatory bowel disease in a Japanese population. | Fuyuno Y et al. | β | 2016 | β |
| Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos. | Conomos MP et al. | β | 2016 | β |
| Genetic imaging consortium for addiction medicine: From neuroimaging to genes. | Mackey S et al. | β | 2016 | β |
| Genetic Risk Score for Essential Hypertension and Risk of Preeclampsia. | Smith CJ et al. | β | 2016 | β |
| Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma. | McGeachie MJ et al. | β | 2016 | β |
| Genetics of structural connectivity and information processing in the brain. | Giddaluru S et al. | β | 2016 | β |
| Genetic Susceptibility to Lipid Levels and Lipid Change Over Time and Risk of Incident Hyperlipidemia in Chinese Populations. | Lu X et al. | β | 2016 | β |
| Genetic Variant in ACVR2B Is Associated with Lean Mass. | Klimentidis YC et al. | β | 2016 | β |
| Genetic variants in the vitamin D pathway genes VDBP and RXRA modulate cutaneous melanoma disease-specific survival. | Yin J et al. | β | 2016 | β |
| Genome-wide analyses of aggressiveness in attention-deficit hyperactivity disorder. | Brevik EJ et al. | β | 2016 | β |
| Genome-wide association meta-analyses identified 1q43 and 2q32.2 for hip Ward's triangle areal bone mineral density. | Pei YF et al. | β | 2016 | β |
| Genome-Wide Association of the Laboratory-Based Nicotine Metabolite Ratio in Three Ancestries. | Baurley JW et al. | β | 2016 | β |
| Genome-wide association studies in the Japanese population identify seven novel loci for type 2 diabetes. | Imamura M et al. | β | 2016 | β |
| Genome-wide association studies suggest sex-specific loci associated with abdominal and visceral fat. | Sung YJ et al. | β | 2016 | β |
| Genome-wide association study identifies 8p21.3 associated with persistent hepatitis B virus infection among Chinese. | Li Y et al. | β | 2016 | β |
| Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. | Schick UM et al. | β | 2016 | β |
| Genome-wide association study of sporadic brain arteriovenous malformations. | Weinsheimer S et al. | β | 2016 | β |
| Genome-wide estimate of the heritability of Multiple System Atrophy. | Federoff M et al. | β | 2016 | β |
| Genome-Wide Gene-Sodium Interaction Analyses on Blood Pressure: The Genetic Epidemiology Network of Salt-Sensitivity Study. | Li C et al. | β | 2016 | β |
| Genome-wide polygenic scores for age at onset of alcohol dependence and association with alcohol-related measures. | Kapoor M et al. | β | 2016 | β |
| Genome-wide significant results identified for plasma apolipoprotein H levels in middle-aged and older adults. | Mather KA et al. | β | 2016 | β |
| Genotype Imputation with Millions of Reference Samples. | Browning BL et al. | β | 2016 | β |
| Germline polymorphisms in an enhancer of PSIP1 are associated with progression-free survival in epithelial ovarian cancer. | French JD et al. | β | 2016 | β |
| G-STRATEGY: Optimal Selection of Individuals for Sequencing in Genetic Association Studies. | Wang M et al. | β | 2016 | β |
| GWAS meta-analysis of 16 852 women identifies new susceptibility locus for endometrial cancer. | Chen MM et al. | β | 2016 | β |
| Haplotype estimation for biobank-scale data sets. | O'Connell J et al. | β | 2016 | β |
| High rates of phasing errors in highly polymorphic species with low levels of linkage disequilibrium. | Bukowicki M et al. | β | 2016 | β |
| Human Diversity in a Cell Surface Receptor that Inhibits Autophagy. | Chaudhary A et al. | β | 2016 | β |
| Identification of Susceptibility Loci and Genes for Colorectal Cancer Risk. | Zeng C et al. | β | 2016 | β |
| Identity-by-descent estimation with population- and pedigree-based imputation in admixed family data. | Saad M et al. | β | 2016 | β |
| Impact of imputation methods on the amount of genetic variation captured by a single-nucleotide polymorphism panel in soybeans. | Xavier A et al. | β | 2016 | β |
| Imputing Genotypes in Biallelic Populations from Low-Coverage Sequence Data. | Fragoso CA et al. | β | 2016 | β |
| Imputing Phenotypes for Genome-wide Association Studies. | Hormozdiari F et al. | β | 2016 | β |
| Influence of common genetic variants on childhood kidney outcomes. | Miliku K et al. | β | 2016 | β |
| Interaction between polyphenols intake and PON1 gene variants on markers of cardiovascular disease: a nutrigenetic observational study. | Rizzi F et al. | β | 2016 | β |
| Joint association analysis of a binary and a quantitative trait in family samples. | Wang S et al. | β | 2016 | β |
| Low-frequency and common genetic variation in ischemic stroke: The METASTROKE collaboration. | Malik R et al. | β | 2016 | β |
| Meta-Analysis for Penalized Regression Methods with Multi-Cohort Genome-Wide Association Studies. | Lu C et al. | β | 2016 | β |
| Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. | Gormley P et al. | β | 2016 | β |
| Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. | Wang Z et al. | β | 2016 | β |
| Meta-analysis of genome-wide association studies of anxiety disorders. | Otowa T et al. | β | 2016 | β |
| Meta-analysis of genome-wide association studies of HDL cholesterol response to statins. | Postmus I et al. | β | 2016 | β |
| Multi-generational imputation of single nucleotide polymorphism marker genotypes and accuracy of genomic selection. | Toghiani S et al. | β | 2016 | β |
| Na Li and Matthew Stephens on Modeling Linkage Disequilibrium. | Song YS | β | 2016 | β |
| Next-generation genotype imputation service and methods. | Das S et al. | β | 2016 | β |
| Novel 6p21.3 Risk Haplotype Predisposes to Acute Coronary Syndrome. | Sinisalo J et al. | β | 2016 | β |
| Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. | Patel YM et al. | β | 2016 | β |
| Paradoxical Relationship Between Body Mass Index and Thyroid Hormone Levels: A Study Using Mendelian Randomization. | Taylor PN et al. | β | 2016 | β |
| Pathway analysis of expression-related SNPs on genome-wide association study of basal cell carcinoma. | Li X et al. | β | 2016 | β |
| Pharmacometabolomics-aided Pharmacogenomics in Autoimmune Disease. | Katsila T et al. | β | 2016 | β |
| Phasing for medical sequencing using rare variants and large haplotype reference panels. | Sharp K et al. | β | 2016 | β |
| Phenotypically Enriched Genotypic Imputation in Genetic Association Tests. | Zhuang WV et al. | β | 2016 | β |
| Polymorphisms in the GNAS Gene as Predictors of Ventricular Tachyarrhythmias and Sudden Cardiac Death: Results From the DISCOVERY Trial and Oregon Sudden Unexpected Death Study. | Wieneke H et al. | β | 2016 | β |
| Polymorphisms of the centrosomal gene (FGFR1OP) and lung cancer risk: a meta-analysis of 14,463 cases and 44,188 controls. | Kang X et al. | β | 2016 | β |
| Prediction of male-pattern baldness from genotypes. | Liu F et al. | β | 2016 | β |
| Preservation Analysis of Macrophage Gene Coexpression Between Human and Mouse Identifies PARK2 as a Genetically Controlled Master Regulator of Oxidative Phosphorylation in Humans. | Codoni V et al. | β | 2016 | β |
| Probabilistic Modeling of Imaging, Genetics and Diagnosis. | Batmanghelich NK et al. | β | 2016 | β |
| Prosaposin is a regulator of progranulin levels and oligomerization. | Nicholson AM et al. | β | 2016 | β |
| PWHATSHAP: efficient haplotyping for future generation sequencing. | Bracciali A et al. | β | 2016 | β |
| Quality Control for the Illumina HumanExome BeadChip. | Igo RP et al. | β | 2016 | β |
| r2VIM: A new variable selection method for random forests in genome-wide association studies. | Szymczak S et al. | β | 2016 | β |
| Rapid and powerful detection of subtle allelic imbalance from exome sequencing data with hapLOHseq. | San Lucas FA et al. | β | 2016 | β |
| Rapid genotype imputation from sequence without reference panels. | Davies RW et al. | β | 2016 | β |
| Replication and Characterization of Association between ABO SNPs and Red Blood Cell Traits by Meta-Analysis in Europeans. | McLachlan S et al. | β | 2016 | β |
| Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout. | Rasheed H et al. | β | 2016 | β |
| Retrospective Binary-Trait Association Test Elucidates Genetic Architecture of Crohn Disease. | Jiang D et al. | β | 2016 | β |
| Serum calcium and incident type 2 diabetes: the Atherosclerosis Risk in Communities (ARIC) study. | Rooney MR et al. | β | 2016 | β |
| Single nucleotide polymorphisms in an intergenic chromosome 2q region associated with tissue factor pathway inhibitor plasma levels and venous thromboembolism. | Dennis J et al. | β | 2016 | β |
| SLC1A1 Gene Variants and Normal Tension Glaucoma: An Association Study. | Nishisako M et al. | β | 2016 | β |
| SparRec: An effective matrix completion framework of missing data imputation for GWAS. | Jiang B et al. | β | 2016 | β |
| State- and trait-dependent associations of vitamin-D with brain function during aging. | Kueider AM et al. | β | 2016 | β |
| Sweet Taste Perception is Associated with Body Mass Index at the Phenotypic and Genotypic Level. | Hwang LD et al. | β | 2016 | β |
| The Combined Effect of Common Genetic Risk Variants on Circulating Lipoproteins Is Evident in Childhood: A Longitudinal Analysis of the Cardiovascular Risk in Young Finns Study. | Buscot MJ et al. | β | 2016 | β |
| The Future is The Past: Methylation QTLs in Schizophrenia. | Hoffmann A et al. | β | 2016 | β |
| Three Approaches to Modeling Gene-Environment Interactions in Longitudinal Family Data: Gene-Smoking Interactions in Blood Pressure. | Basson J et al. | β | 2016 | β |
| Thyroid Function Characteristics and Determinants: The Rotterdam Study. | Chaker L et al. | β | 2016 | β |
| Using Mendelian randomization to investigate a possible causal relationship between adiposity and increased bone mineral density at different skeletal sites in children. | Kemp JP et al. | β | 2016 | β |
| Variants in the LGALS9 Gene Are Associated With Development of Liver Disease in Heavy Consumers of Alcohol. | Rosen HR et al. | β | 2016 | β |
| VRK2 gene expression in schizophrenia, bipolar disorder and healthy controls. | Tesli M et al. | β | 2016 | β |
| 2014 Curt Stern Award: Adventures in human genetics. | Abecasis GR | β | 2015 | β |
| Adult adiposity susceptibility loci, early growth and general and abdominal fatness in childhood: the Generation R Study. | Vogelezang S et al. | β | 2015 | β |
| A genome-wide association study identifies PLCL2 and AP3D1-DOT1L-SF3A2 as new susceptibility loci for myocardial infarction in Japanese. | Hirokawa M et al. | β | 2015 | β |
| A genome-wide association study identifies risk loci for spirometric measures among smokers of European and African ancestry. | Lutz SM et al. | β | 2015 | β |
| A Genome-Wide Association Study Identifies the Skin Color Genes IRF4, MC1R, ASIP, and BNC2 Influencing Facial Pigmented Spots. | Jacobs LC et al. | β | 2015 | β |
| A genome-wide association study of body mass index across early life and childhood. | Warrington NM et al. | β | 2015 | β |
| A genome-wide association study of saturated, mono- and polyunsaturated red blood cell fatty acids in the Framingham Heart Offspring Study. | Tintle NL et al. | β | 2015 | β |
| A genome-wide screening and SNPs-to-genes approach to identify novel genetic risk factors associated with frontotemporal dementia. | Ferrari R et al. | β | 2015 | β |
| Aggregate Effects of Intraocular Pressure and Cup-to-Disc Ratio Genetic Variants on Glaucoma in a Multiethnic Asian Population. | Tham YC et al. | β | 2015 | β |
| A haplotype-based framework for group-wise transmission/disequilibrium tests for rare variant association analysis. | Chen R et al. | β | 2015 | β |
| A Joint Location-Scale Test Improves Power to Detect Associated SNPs, Gene Sets, and Pathways. | Soave D et al. | β | 2015 | β |
| A kernel machine method for detecting effects of interaction between multidimensional variable sets: an imaging genetics application. | Ge T et al. | β | 2015 | β |
| Altered Brain Activation during Emotional Face Processing in Relation to Both Diagnosis and Polygenic Risk of Bipolar Disorder. | Tesli M et al. | β | 2015 | β |
| Amino Acid Variation in HLA Class II Proteins Is a Major Determinant of Humoral Response to Common Viruses. | Hammer C et al. | β | 2015 | β |
| A multivariate Bernoulli model to predict DNaseI hypersensitivity status from haplotype data. | Shi H et al. | β | 2015 | β |
| An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data. | Jun G et al. | β | 2015 | β |
| A new strategy for enhancing imputation quality of rare variants from next-generation sequencing data via combining SNP and exome chip data. | Kim YJ et al. | β | 2015 | β |
| A novel common variant in DCST2 is associated with length in early life and height in adulthood. | van der Valk RJ et al. | β | 2015 | β |
| A Novel Risk Locus at 6p21.3 for Epstein-Barr Virus-Positive Hodgkin Lymphoma. | Delahaye-Sourdeix M et al. | β | 2015 | β |
| A PAX1 enhancer locus is associated with susceptibility to idiopathic scoliosis in females. | Sharma S et al. | β | 2015 | β |
| APLP2 Regulates Refractive Error and Myopia Development in Mice and Humans. | Tkatchenko AV et al. | β | 2015 | β |
| Are obesity risk genes associated with binge eating in adolescence? | Micali N et al. | β | 2015 | β |
| A spatial haplotype copying model with applications to genotype imputation. | Yang WY et al. | β | 2015 | β |
| Assessing gene-environment interactions for common and rare variants with binary traits using gene-trait similarity regression. | Zhao G et al. | β | 2015 | β |
| Association between endometriosis and the interleukin 1A (IL1A) locus. | Sapkota Y et al. | β | 2015 | β |
| Association of an inherited genetic variant with vincristine-related peripheral neuropathy in children with acute lymphoblastic leukemia. | Diouf B et al. | β | 2015 | β |
| Association of clusterin (CLU) variants and exfoliation syndrome: An analysis in two Caucasian studies and a meta-analysis. | Fan BJ et al. | β | 2015 | β |
| Associations between the 17q21 region and allergic rhinitis in 5 birth cohorts. | Fuertes E et al. | β | 2015 | β |
| A systematic heritability analysis of the human whole blood transcriptome. | Huan T et al. | β | 2015 | β |
| Attenuated monocyte apoptosis, a new mechanism for osteoporosis suggested by a transcriptome-wide expression study of monocytes. | Liu YZ et al. | β | 2015 | β |
| Bayesian Partition Models for Identifying Expression Quantitative Trait Loci. | Jiang B et al. | β | 2015 | β |
| Beyond the usual suspects: a multidimensional genetic exploration of infant attachment disorganization and security. | Pappa I et al. | β | 2015 | β |
| Big data challenges in bone research: genome-wide association studies and next-generation sequencing. | Alonso N et al. | β | 2015 | β |
| Body Mass Index Genetic Risk Score and Endometrial Cancer Risk. | Prescott J et al. | β | 2015 | β |
| Calcium intake, polymorphisms of the calcium-sensing receptor, and recurrent/aggressive prostate cancer. | Binder M et al. | β | 2015 | β |
| Can Genetic Analysis of Putative Blood Alzheimer's Disease Biomarkers Lead to Identification of Susceptibility Loci? | Barber RC et al. | β | 2015 | β |
| Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study. | Medina-Gomez C et al. | β | 2015 | β |
| Choosing Subsamples for Sequencing Studies by Minimizing the Average Distance to the Closest Leaf. | Kang JT et al. | β | 2015 | β |
| Combined Whole Methylome and Genomewide Association Study Implicates CNTN4 in Alcohol Use. | Clark SL et al. | β | 2015 | β |
| Common genetic variants influence human subcortical brain structures. | Hibar DP et al. | β | 2015 | β |
| Common polygenic variation enhances risk prediction for Alzheimer's disease. | Escott-Price V et al. | β | 2015 | β |
| Common variants in the ARC gene are not associated withΒ cognitive abilities. | Myrum C et al. | β | 2015 | β |
| Common variants of NFE2L2 gene predisposes to acute respiratory distress syndrome in patients with severe sepsis. | Acosta-Herrera M et al. | β | 2015 | β |
| Comparing variant calling algorithms for target-exon sequencing in a large sample. | Lo Y et al. | β | 2015 | β |
| Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken. | Ni G et al. | β | 2015 | β |
| Comprehensive assessment of the disputed RET Y791F variant shows no association with medullary thyroid carcinoma susceptibility. | Toledo RA et al. | β | 2015 | β |
| Comprehensive genetic assessment of the ESR1 locus identifies a risk region for endometrial cancer. | O'Mara TA et al. | β | 2015 | β |
| Concordance of genetic risk across migraine subgroups: Impact on current and future genetic association studies. | Nyholt DR et al. | β | 2015 | β |
| Contemporary Considerations for Constructing a Genetic Risk Score: An Empirical Approach. | Goldstein BA et al. | β | 2015 | β |
| Cross-sectional population associations between detailed adiposity measures and C-reactive protein levels at age 6 years: the Generation R Study. | Toemen L et al. | β | 2015 | β |
| CTNNA3 and SEMA3D: Promising loci for asthma exacerbation identified through multiple genome-wide association studies. | McGeachie MJ et al. | β | 2015 | β |
| Deciphering associations for lung cancer risk through imputation and analysis of 12,316 cases and 16,831 controls. | Wang Y et al. | β | 2015 | β |
| De novo assembly of a haplotype-resolved human genome. | Cao H et al. | β | 2015 | β |
| Differential Genetic Effects on Statin-Induced Changes Across Low-Density Lipoprotein-Related Measures. | Chu AY et al. | β | 2015 | β |
| Direct Estimates of the Genomic Contributions to Blood Pressure Heritability within a Population-Based Cohort (ARIC). | Salfati E et al. | β | 2015 | β |
| Disease mechanisms in rheumatology--tools and pathways: defining functional genetic variants in autoimmune diseases. | Wang S et al. | β | 2015 | β |
| DISSCO: direct imputation of summary statistics allowing covariates. | Xu Z et al. | β | 2015 | β |
| DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts. | Lee D et al. | β | 2015 | β |
| Drug-Gene Interactions of Antihypertensive Medications and Risk of Incident Cardiovascular Disease: A Pharmacogenomics Study from the CHARGE Consortium. | Bis JC et al. | β | 2015 | β |
| eQTL mapping identifies insertion- and deletion-specific eQTLs in multiple tissues. | Huang J et al. | β | 2015 | β |
| Estimation of Genetic Relationships Between Individuals Across Cohorts and Platforms: Application to Childhood Height. | Fedko IO et al. | β | 2015 | β |
| Evaluation of genetic risk loci for intracranial aneurysms in sporadic arteriovenous malformations of the brain. | Kremer PH et al. | β | 2015 | β |
| Evaluation of Genome Wide Association Study Associated Type 2 Diabetes Susceptibility Loci in Sub Saharan Africans. | Adeyemo AA et al. | β | 2015 | β |
| Exact Inference for Hardy-Weinberg Proportions with Missing Genotypes: Single and Multiple Imputation. | Graffelman J et al. | β | 2015 | β |
| Explicit Modeling of Ancestry Improves Polygenic Risk Scores and BLUP Prediction. | Chen CY et al. | β | 2015 | β |
| Expression Quantitative Trait Loci Information Improves Predictive Modeling of Disease Relevance of Non-Coding Genetic Variation. | Croteau-Chonka DC et al. | β | 2015 | β |
| Fine mapping of eight psoriasis susceptibility loci. | Das S et al. | β | 2015 | β |
| Functional evaluation of genetic variants associated with endometriosis near GREB1. | Fung JN et al. | β | 2015 | β |
| Functional Variants in Notch Pathway Genes NCOR2, NCSTN, and MAML2 Predict Survival of Patients with Cutaneous Melanoma. | Zhang W et al. | β | 2015 | β |
| Functional variants regulating LGALS1 (Galectin 1) expression affect human susceptibility to influenza A(H7N9). | Chen Y et al. | β | 2015 | β |
| Genes from a translational analysis support a multifactorial nature of white matter hyperintensities. | Lopez LM et al. | β | 2015 | β |
| Genetic and clinical factors associated with obesity among adult survivors of childhood cancer: A report from the St. Jude Lifetime Cohort. | Wilson CL et al. | β | 2015 | β |
| Genetic and environmental factors in conjunctival UV autofluorescence. | Yazar S et al. | β | 2015 | β |
| Genetic association of fetal-hemoglobin levels in individuals with sickle cell disease in Tanzania maps to conserved regulatory elements within the MYB core enhancer. | Mtatiro SN et al. | β | 2015 | β |
| Genetic control of gene expression at novel and established chronic obstructive pulmonary disease loci. | Castaldi PJ et al. | β | 2015 | β |
| Genetic loci associated with circulating levels of very long-chain saturated fatty acids. | Lemaitre RN et al. | β | 2015 | β |
| Genetic polymorphisms of PCSK2 are associated with glucose homeostasis and progression to type 2 diabetes in a Chinese population. | Chang TJ et al. | β | 2015 | β |
| Genetic Predisposition to Dyslipidemia and Risk of Preeclampsia. | Spracklen CN et al. | β | 2015 | β |
| Genetics of CD33 in Alzheimer's disease and acute myeloid leukemia. | Malik M et al. | β | 2015 | β |
| Genetics of hand grip strength in mid to late life. | Chan JP et al. | β | 2015 | β |
| Genetic variants in DNA repair genes as potential predictive markers for oxaliplatin chemotherapy in colorectal cancer. | Kap EJ et al. | β | 2015 | β |
| Genetic variants in fanconi anemia pathway genes BRCA2 and FANCA predict melanoma survival. | Yin J et al. | β | 2015 | β |
| Genetic variants modulating CRIPTO serum levels identified by genome-wide association study in Cilento isolates. | Ruggiero D et al. | β | 2015 | β |
| Genome- and exome-wide association study of serum lipoprotein (a) in the Jackson Heart Study. | Li J et al. | β | 2015 | β |
| GenomeLaser: fast and accurate haplotyping from pedigree genotypes. | Li W et al. | β | 2015 | β |
| Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. | Sidore C et al. | β | 2015 | β |
| Genome-wide admixture and association study of serum iron, ferritin, transferrin saturation and total iron binding capacity in African Americans. | Li J et al. | β | 2015 | β |
| Genome-wide association analyses based on whole-genome sequencing in Sardinia provide insights into regulation of hemoglobin levels. | Danjou F et al. | β | 2015 | β |
| Genome-wide Association Analysis of Psoriatic Arthritis and Cutaneous Psoriasis Reveals Differences in Their Genetic Architecture. | Stuart PE et al. | β | 2015 | β |
| Genome-wide association and functional studies identify a role for IGFBP3 in hip osteoarthritis. | Evans DS et al. | β | 2015 | β |
| Genome-Wide Association Mapping for Leaf Tip Necrosis and Pseudo-black Chaff in Relation to Durable Rust Resistance in Wheat. | Juliana P et al. | β | 2015 | β |
| Genome-wide association study for endothelial growth factors. | Lieb W et al. | β | 2015 | β |
| Genome-wide association study for refractive astigmatism reveals genetic co-determination with spherical equivalent refractive error: the CREAM consortium. | Li Q et al. | β | 2015 | β |
| Genome-wide association study identifies African-ancestry specific variants for metabolic syndrome. | Tekola-Ayele F et al. | β | 2015 | β |
| Genome-wide association study in Chinese identifies novel loci for blood pressure and hypertension. | Lu X et al. | β | 2015 | β |
| Genome-wide association study of colorectal cancer identifies six new susceptibility loci. | Schumacher FR et al. | β | 2015 | β |
| Genome-wide association study of NMDA receptor coagonists in human cerebrospinal fluid and plasma. | Luykx JJ et al. | β | 2015 | β |
| Genome-wide association study of schizophrenia in Ashkenazi Jews. | Goes FS et al. | β | 2015 | β |
| Genome-wide association study of triglyceride response to a high-fat meal among participants of the NHLBI Genetics of Lipid Lowering Drugs and Diet Network (GOLDN). | Wojczynski MK et al. | β | 2015 | β |
| Genome-wide Gene-Asbestos Exposure Interaction Association Study Identifies a Common Susceptibility Variant on 22q13.31 Associated with Lung Cancer Risk. | Liu CY et al. | β | 2015 | β |
| Genome-wide interaction analysis reveals replicated epistatic effects on brain structure. | Hibar DP et al. | β | 2015 | β |
| Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. | Law MH et al. | β | 2015 | β |
| Genome-Wide Meta-Analysis of Longitudinal Alcohol Consumption Across Youth and Early Adulthood. | Adkins DE et al. | β | 2015 | β |
| Genomic and transcriptomic predictors of triglyceride response to regular exercise. | Sarzynski MA et al. | β | 2015 | β |
| Genomic influences on alcohol problems in a population-based sample of young adults. | Edwards AC et al. | β | 2015 | β |
| Genomic prediction using imputed whole-genome sequence data in Holstein Friesian cattle. | van Binsbergen R et al. | β | 2015 | β |
| GWAS of longitudinal amyloid accumulation on 18F-florbetapir PET in Alzheimer's disease implicates microglial activation gene IL1RAP. | Ramanan VK et al. | β | 2015 | β |
| Heritabilities, proportions of heritabilities explained by GWAS findings, and implications of cross-phenotype effects on PR interval. | Silva CT et al. | β | 2015 | β |
| Heritability and genome-wide analyses of problematic peer relationships during childhood and adolescence. | St Pourcain B et al. | β | 2015 | β |
| High-accuracy haplotype imputation using unphased genotype data as the references. | Li W et al. | β | 2015 | β |
| Hypothesis testing at the extremes: fast and robust association for high-throughput data. | Zhou YH et al. | β | 2015 | β |
| Identification and validation of N-acetyltransferase 2 as an insulin sensitivity gene. | Knowles JW et al. | β | 2015 | β |
| Identification of common genetic variants controlling transcript isoform variation in human whole blood. | Zhang X et al. | β | 2015 | β |
| Identification of TMPRSS2 as a Susceptibility Gene for Severe 2009 Pandemic A(H1N1) Influenza and A(H7N9) Influenza. | Cheng Z et al. | β | 2015 | β |
| Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. | Erzurumluoglu AM et al. | β | 2015 | β |
| Impact of genetic similarity on imputation accuracy. | Roshyara NR et al. | β | 2015 | β |
| Improved ancestry estimation for both genotyping and sequencing data using projection procrustes analysis and genotype imputation. | Wang C et al. | β | 2015 | β |
| Imputation-based population genetics analysis of Plasmodium falciparum malaria parasites. | Samad H et al. | β | 2015 | β |
| Incorporating Known Genetic Variants Does Not Improve the Accuracy of PSA Testing to Identify High Risk Prostate Cancer on Biopsy. | Gilbert R et al. | β | 2015 | β |
| Independent Replication and Meta-Analysis for Endometriosis Risk Loci. | Sapkota Y et al. | β | 2015 | β |
| Influence of Smoking Status and Intensity on Discovery of Blood Pressure Loci Through Gene-Smoking Interactions. | Basson J et al. | β | 2015 | β |
| Integrative analysis of sequencing and array genotype data for discovering disease associations with rare mutations. | Hu YJ et al. | β | 2015 | β |
| Integrative genomics identifies 7p11.2 as a novel locus for fever and clinical stress response in humans. | Ferguson JF et al. | β | 2015 | β |
| Integrative network analysis reveals molecular mechanisms of blood pressure regulation. | Huan T et al. | β | 2015 | β |
| Interaction association analysis of imputed SNPs in case-control and follow-up studies. | Subirana I et al. | β | 2015 | β |
| Interaction between Common Genetic Variants and Total Fat Intake on Low-Density Lipoprotein Peak Particle Diameter: A Genome-Wide Association Study. | Rudkowska I et al. | β | 2015 | β |
| International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways. | Cordell HJ et al. | β | 2015 | β |
| Investigating the genetics of hippocampal volume in older adults without dementia. | Mather KA et al. | β | 2015 | β |
| IREB2 and GALC are associated with pulmonary artery enlargement in chronic obstructive pulmonary disease. | Lee JH et al. | β | 2015 | β |
| Kidney injury molecule-1 and the loss of kidney function in diabetic nephropathy: a likely causal link in patients with type 1 diabetes. | Panduru NM et al. | β | 2015 | β |
| Large-scale genomics unveil polygenic architecture of human cortical surface area. | Chen CH et al. | β | 2015 | β |
| Long-range epigenetic regulation is conferred by genetic variation located at thousands of independent loci. | Lemire M et al. | β | 2015 | β |
| Making sense of GWAS: using epigenomics and genome engineering to understand the functional relevance of SNPs in non-coding regions of the human genome. | Tak YG et al. | β | 2015 | β |
| Meta-analysis identifies seven susceptibility loci involved in the atopic march. | Marenholz I et al. | β | 2015 | β |
| Meta-analysis of Genome-Wide Association Studies Identifies Novel Loci Associated With Optic Disc Morphology. | Springelkamp H et al. | β | 2015 | β |
| MGAS: a powerful tool for multivariate gene-based genome-wide association analysis. | Van der Sluis S et al. | β | 2015 | β |
| Myocardial Infarction-Associated SNP at 6p24 Interferes With MEF2 Binding and Associates With PHACTR1 Expression Levels in Human Coronary Arteries. | Beaudoin M et al. | β | 2015 | β |
| One Size Doesn't Fit All - RefEditor: Building Personalized Diploid Reference Genome to Improve Read Mapping and Genotype Calling in Next Generation Sequencing Studies. | Yuan S et al. | β | 2015 | β |
| On the design and analysis of next-generation sequencing genotyping for a cohort with haplotype-informative reads. | Zhi D et al. | β | 2015 | β |
| Pedigree-Free Descent-Based Gene Mapping from Population Samples. | Glazner C et al. | β | 2015 | β |
| Performance of genotype imputation for low frequency and rare variants from the 1000 genomes. | Zheng HF et al. | β | 2015 | β |
| Polygenic risk scores for schizophrenia and bipolar disorder predict creativity. | Power RA et al. | β | 2015 | β |
| Polygenic risk scores in bipolar disorder subgroups. | Aminoff SR et al. | β | 2015 | β |
| Polymorphisms of large effect explain the majority of the host genetic contribution to variation of HIV-1 virus load. | McLaren PJ et al. | β | 2015 | β |
| Polymorphisms within the APOBR gene are highly associated with milk levels of prognostic ketosis biomarkers in dairy cows. | Tetens J et al. | β | 2015 | β |
| Population-based in vitro hazard and concentration-response assessment of chemicals: the 1000 genomes high-throughput screening study. | Abdo N et al. | β | 2015 | β |
| Population-specific genotype imputations using minimac or IMPUTE2. | van Leeuwen EM et al. | β | 2015 | β |
| Prediction of breast cancer survival using clinical and genetic markers by tumor subtypes. | Song N et al. | β | 2015 | β |
| PRIMAL: Fast and accurate pedigree-based imputation from sequence data in a founder population. | Livne OE et al. | β | 2015 | β |
| Proper Use of Allele-Specific Expression Improves Statistical Power for <i>cis</i>-eQTL Mapping with RNA-Seq Data. | Hu YJ et al. | β | 2015 | β |
| Prospects and limits of marker imputation in quantitative genetic studies in European elite wheat (Triticum aestivum L.). | He S et al. | β | 2015 | β |
| Prothrombotic genetic risk factors are associated with an increased risk of liver fibrosis in the general population: The Rotterdam Study. | Plompen EP et al. | β | 2015 | β |
| PyPedia: using the wiki paradigm as crowd sourcing environment for bioinformatics protocols. | Kanterakis A et al. | β | 2015 | β |
| Rare variant association studies: considerations, challenges and opportunities. | Auer PL et al. | β | 2015 | β |
| Rare variant genotype imputation with thousands of study-specific whole-genome sequences: implications for cost-effective study designs. | Pistis G et al. | β | 2015 | β |
| Recommendations for Accurate Resolution of Gene and Isoform Allele-Specific Expression in RNA-Seq Data. | Wood DL et al. | β | 2015 | β |
| References for Haplotype Imputation in the Big Data Era. | Li W et al. | β | 2015 | β |
| Relatedness in the post-genomic era: is it still useful? | Speed D et al. | β | 2015 | β |
| Removing reference mapping biases using limited or no genotype data identifies allelic differences in protein binding at disease-associated loci. | Buchkovich ML et al. | β | 2015 | β |
| Seasonality shows evidence for polygenic architecture and genetic correlation with schizophrenia and bipolar disorder. | Byrne EM et al. | β | 2015 | β |
| Short communication: Use of genomic and metabolic information as well as milk performance records for prediction of subclinical ketosis risk via artificial neural networks. | Ehret A et al. | β | 2015 | β |
| Single nucleotide polymorphism-single nucleotide polymorphism interactions among inflammation genes in the genetic architecture of blood pressure in the Framingham Heart Study. | Basson JJ et al. | β | 2015 | β |
| Software solutions for the livestock genomics SNP array revolution. | Nicolazzi EL et al. | β | 2015 | β |
| Strategies for fine-mapping complex traits. | Spain SL et al. | β | 2015 | β |
| Strategies for single nucleotide polymorphism (SNP) genotyping to enhance genotype imputation in Gyr (Bos indicus) dairy cattle: Comparison of commercially available SNP chips. | Boison SA et al. | β | 2015 | β |
| Susceptibility Loci for Clinical Coronary Artery Disease and Subclinical Coronary Atherosclerosis Throughout the Life-Course. | Salfati E et al. | β | 2015 | β |
| Systematic assessment of imputation performance using the 1000 Genomes reference panels. | Liu Q et al. | β | 2015 | β |
| Takayasu arteritis and ulcerative colitis: high rate of co-occurrence and genetic overlap. | Terao C et al. | β | 2015 | β |
| TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives. | Chittani M et al. | β | 2015 | β |
| The Genetic Architecture of Arsenic Metabolism Efficiency:A SNP-Based Heritability Study of Bangladeshi Adults. | Gao J et al. | β | 2015 | β |
| The Influence of Age and Sex on Genetic Associations with Adult Body Size and Shape: A Large-Scale Genome-Wide Interaction Study. | Winkler TW et al. | β | 2015 | β |
| The Influence of Known Genetic Variants on Subclinical Cardiovascular Outcomes in Childhood: Generation R Study. | Punwasi RV et al. | β | 2015 | β |
| The Interplay Between Host Genetic Variation, Viral Replication, and Microbial Translocation in Untreated HIV-Infected Individuals. | Perkins MR et al. | β | 2015 | β |
| Uncovering genes and ploidy involved in the high diversity in root hair density, length and response to local scarce phosphate in Arabidopsis thaliana. | Stetter MG et al. | β | 2015 | β |
| Unravelling the hidden ancestry of American admixed populations. | Montinaro F et al. | β | 2015 | β |
| Uric Acid and Cardiovascular Events: A Mendelian Randomization Study. | Kleber ME et al. | β | 2015 | β |
| Using genetics to test the causal relationship of total adiposity and periodontitis: Mendelian randomization analyses in the Gene-Lifestyle Interactions and Dental Endpoints (GLIDE) Consortium. | Shungin D et al. | β | 2015 | β |
| Variants in Solute Carrier SLC26A9 Modify Prenatal Exocrine Pancreatic Damage in Cystic Fibrosis. | Miller MR et al. | β | 2015 | β |
| Vitamin D and C-Reactive Protein: A Mendelian Randomization Study. | Liefaard MC et al. | β | 2015 | β |
| WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads. | Patterson M et al. | β | 2015 | β |
| When Does Choice of Accuracy Measure Alter Imputation Accuracy Assessments? | Ramnarine S et al. | β | 2015 | β |
| Whole-genome sequence-based analysis of thyroid function. | Taylor PN et al. | β | 2015 | β |
| Whole-genome sequencing to understand the genetic architecture of common gene expression and biomarker phenotypes. | Wood AR et al. | β | 2015 | β |
| Whole genome SNP genotype piecemeal imputation. | Wang Y et al. | β | 2015 | β |
| WNT10A exonic variant increases the risk of keratoconus by decreasing corneal thickness. | Cuellar-Partida G et al. | β | 2015 | β |
| Accuracy of imputation to whole-genome sequence data in Holstein Friesian cattle. | van Binsbergen R et al. | β | 2014 | β |
| A general efficient and flexible approach for genome-wide association analyses of imputed genotypes in family-based designs. | Cobat A et al. | β | 2014 | β |
| A genetic association study of D-dimer levels with 50K SNPs from a candidate gene chip in four ethnic groups. | Weng LC et al. | β | 2014 | β |
| A genome-wide association study identifies a novel locus at 6q22.1 associated with ulcerative colitis. | JuliΓ A et al. | β | 2014 | β |
| A genome-wide association study identifies susceptibility loci for ossification of the posterior longitudinal ligament of the spine. | Nakajima M et al. | β | 2014 | β |
| A genome-wide association study of serum levels of prostate-specific antigen in the Japanese population. | Terao C et al. | β | 2014 | β |
| A hidden Markov model for haplotype inference for present-absent data of clustered genes using identified haplotypes and haplotype patterns. | Wu J et al. | β | 2014 | β |
| A meta-analysis of Hodgkin lymphoma reveals 19p13.3 TCF3 as a novel susceptibility locus. | Cozen W et al. | β | 2014 | β |
| Ancestry and other genetic associations with plasma PCSK9 response to simvastatin. | Theusch E et al. | β | 2014 | β |
| A new approach for efficient genotype imputation using information from relatives. | Sargolzaei M et al. | β | 2014 | β |
| Angiogenic, neurotrophic, and inflammatory system SNPs moderate the association between birth weight and ADHD symptom severity. | Smith TF et al. | β | 2014 | β |
| Another explanation for apparent epistasis. | Wood AR et al. | β | 2014 | β |
| Assessing accuracy of genotype imputation in American Indians. | Malhotra A et al. | β | 2014 | β |
| Association between antinuclear antibodies and the HLA class II locus and heterogeneous characteristics of staining patterns: the Nagahama study. | Terao C et al. | β | 2014 | β |
| Association studies with imputed variants using expectation-maximization likelihood-ratio tests. | Huang KC et al. | β | 2014 | β |
| Cis and trans effects of human genomic variants on gene expression. | Bryois J et al. | β | 2014 | β |
| Cntnap4 differentially contributes to GABAergic and dopaminergic synaptic transmission. | Karayannis T et al. | β | 2014 | β |
| Common variation near ROBO2 is associated with expressive vocabulary in infancy. | St Pourcain B et al. | β | 2014 | β |
| Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees. | Almasy L et al. | β | 2014 | β |
| Detecting local haplotype sharing and haplotype association. | Xu H et al. | β | 2014 | β |
| Discovery of new risk loci for IgA nephropathy implicates genes involved in immunity against intestinal pathogens. | Kiryluk K et al. | β | 2014 | β |
| DNAH5 is associated with total lung capacity in chronic obstructive pulmonary disease. | Lee JH et al. | β | 2014 | β |
| Epidemiology, genetics, and subtyping of preserved ratio impaired spirometry (PRISm) in COPDGene. | Wan ES et al. | β | 2014 | β |
| Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. | Tantoso E et al. | β | 2014 | β |
| Evaluation of replication of variants associated with genetic risk of otitis media. | Allen EK et al. | β | 2014 | β |
| Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. | Pasaniuc B et al. | β | 2014 | β |
| Fine mapping and functional studies of risk variants for type 1 diabetes at chromosome 16p13.13. | Tomlinson MJ et al. | β | 2014 | β |
| Frontotemporal dementia and its subtypes: a genome-wide association study. | Ferrari R et al. | β | 2014 | β |
| GACT: a Genome build and Allele definition Conversion Tool for SNP imputation and meta-analysis in genetic association studies. | Sulovari A et al. | β | 2014 | β |
| Genetic risk score and adiposity interact to influence triglyceride levels in a cohort of Filipino women. | Zubair N et al. | β | 2014 | β |
| Genetic risk score of NOS gene variants associated with myocardial infarction correlates with coronary incidence across Europe. | Carreras-Torres R et al. | β | 2014 | β |
| Genetic susceptibility for chronic bronchitis in chronic obstructive pulmonary disease. | Lee JH et al. | β | 2014 | β |
| Genetic variability in the regulation of gene expression in ten regions of the human brain. | Ramasamy A et al. | β | 2014 | β |
| Genetic variants associated with lung function: the long life family study. | Thyagarajan B et al. | β | 2014 | β |
| Genetic variation associated with differential educational attainment in adults has anticipated associations with school performance in children. | Ward ME et al. | β | 2014 | β |
| Gene-wide analysis detects two new susceptibility genes for Alzheimer's disease. | Escott-Price V et al. | β | 2014 | β |
| Genome-wide analysis of multi-ancestry cohorts identifies new loci influencing intraocular pressure and susceptibility to glaucoma. | Hysi PG et al. | β | 2014 | β |
| Genome-wide association analysis identifies six new loci associated with forced vital capacity. | Loth DW et al. | β | 2014 | β |
| Genome-wide association analysis in East Asians identifies breast cancer susceptibility loci at 1q32.1, 5q14.3 and 15q26.1. | Cai Q et al. | β | 2014 | β |
| Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns. | Castaldi PJ et al. | β | 2014 | β |
| Genome-wide association studies and heritability estimates of body mass index related phenotypes in Bangladeshi adults. | Scannell Bryan M et al. | β | 2014 | β |
| Genome-wide association study identifies CAMKID variants involved in blood pressure response to losartan: the SOPHIA study. | Frau F et al. | β | 2014 | β |
| Genome-wide association study of height-adjusted BMI in childhood identifies functional variant in ADCY3. | Stergiakouli E et al. | β | 2014 | β |
| Genome-wide association study of plasma N6 polyunsaturated fatty acids within the cohorts for heart and aging research in genomic epidemiology consortium. | Guan W et al. | β | 2014 | β |
| Genome-wide association study of vitamin D levels in children: replication in the Western Australian Pregnancy Cohort (Raine) study. | Anderson D et al. | β | 2014 | β |
| Genome-wide estimation of linkage disequilibrium from population-level high-throughput sequencing data. | Maruki T et al. | β | 2014 | β |
| Genome-wide inference of ancestral recombination graphs. | Rasmussen MD et al. | β | 2014 | β |
| Genome-wide interaction studies reveal sex-specific asthma risk alleles. | Myers RA et al. | β | 2014 | β |
| Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation. | AΓ―ssi D et al. | β | 2014 | β |
| Genome-wide scans of genetic variants for psychophysiological endophenotypes: a methodological overview. | Iacono WG et al. | β | 2014 | β |
| Genotypic discrepancies arising from imputation. | Hinrichs AL et al. | β | 2014 | β |
| Harmonization of study and reference data by PhaseLift: saving time when imputing study data. | Gorski M et al. | β | 2014 | β |
| HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants. | Heap GA et al. | β | 2014 | β |
| Human genetic evidence for involvement of CD137 in atherosclerosis. | SΓΆderstrΓΆm LΓ et al. | β | 2014 | β |
| Human genomic regions with exceptionally high levels of population differentiation identified from 911 whole-genome sequences. | Colonna V et al. | β | 2014 | β |
| Identification of three novel genetic variations associated with electrocardiographic traits (QRS duration and PR interval) in East Asians. | Hong KW et al. | β | 2014 | β |
| Impact of pre-imputation SNP-filtering on genotype imputation results. | Roshyara NR et al. | β | 2014 | β |
| Imputation and quality control steps for combining multiple genome-wide datasets. | Verma SS et al. | β | 2014 | β |
| In search of rare variants: preliminary results from whole genome sequencing of 1,325 individuals with psychophysiological endophenotypes. | Vrieze SI et al. | β | 2014 | β |
| Insulin resistance: regression and clustering. | Yoon S et al. | β | 2014 | β |
| Integrated genome-wide association, coexpression network, and expression single nucleotide polymorphism analysis identifies novel pathway in allergic rhinitis. | Bunyavanich S et al. | β | 2014 | β |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. | Delaneau O et al. | β | 2014 | β |
| Integrative analysis of GWASs, human protein interaction, and gene expression identified gene modules associated with BMDs. | He H et al. | β | 2014 | β |
| Interaction of the ADRB2 gene polymorphism with childhood trauma in predicting adult symptoms of posttraumatic stress disorder. | Liberzon I et al. | β | 2014 | β |
| Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. | Zhang B et al. | β | 2014 | β |
| Lipoprotein lipase variants interact with polyunsaturated fatty acids for obesity traits in women: replication in two populations. | Ma Y et al. | β | 2014 | β |
| Local and global ancestry inference and applications to genetic association analysis for admixed populations. | Thornton TA et al. | β | 2014 | β |
| Mediation analysis demonstrates that trans-eQTLs are often explained by cis-mediation: a genome-wide analysis among 1,800 South Asians. | Pierce BL et al. | β | 2014 | β |
| Mega2: validated data-reformatting for linkage and association analyses. | Baron RV et al. | β | 2014 | β |
| Meta-analysis identifies loci affecting levels of the potential osteoarthritis biomarkers sCOMP and uCTX-II with genome wide significance. | Ramos YF et al. | β | 2014 | β |
| Meta-analysis of genome-wide association studies for circulating phylloquinone concentrations. | Dashti HS et al. | β | 2014 | β |
| Meta-analysis of genome-wide association studies identifies novel loci that influence cupping and the glaucomatous process. | Springelkamp H et al. | β | 2014 | β |
| Meta-analysis of genome-wide association studies in African Americans provides insights into the genetic architecture of type 2 diabetes. | Ng MC et al. | β | 2014 | β |
| Multiple associated variants increase the heritability explained for plasma lipids and coronary artery disease. | Tada H et al. | β | 2014 | β |
| Multiple quantitative trait analysis using bayesian networks. | Scutari M et al. | β | 2014 | β |
| No evidence for genome-wide interactions on plasma fibrinogen by smoking, alcohol consumption and body mass index: results from meta-analyses of 80,607 subjects. | Baumert J et al. | β | 2014 | β |
| On the performance of multiple imputation based on chained equations in tackling missing data of the African Ξ±3.7 -globin deletion in a malaria association study. | SepΓΊlveda N et al. | β | 2014 | β |
| PedBLIMP: extending linear predictors to impute genotypes in pedigrees. | Chen W et al. | β | 2014 | β |
| Phenotypic and genetic heterogeneity among subjects with mild airflow obstruction in COPDGene. | Lee JH et al. | β | 2014 | β |
| Phenotypic dissection of bone mineral density reveals skeletal site specificity and facilitates the identification of novel loci in the genetic regulation of bone mass attainment. | Kemp JP et al. | β | 2014 | β |
| Polygenic risk score and the psychosis continuum model. | Tesli M et al. | β | 2014 | β |
| Privacy preserving protocol for detecting genetic relatives using rare variants. | Hormozdiari F et al. | β | 2014 | β |
| Rare-variant association analysis: study designs and statistical tests. | Lee S et al. | β | 2014 | β |
| Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. | Wang Y et al. | β | 2014 | β |
| Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population. | NΓ¦ss S et al. | β | 2014 | β |
| Replication of 6 obesity genes in a meta-analysis of genome-wide association studies from diverse ancestries. | Tan LJ et al. | β | 2014 | β |
| Results of a "GWAS plus:" general cognitive ability is substantially heritable and massively polygenic. | Kirkpatrick RM et al. | β | 2014 | β |
| RTeQTL: Real-Time Online Engine for Expression Quantitative Trait Loci Analyses. | Ma B et al. | β | 2014 | β |
| Salt-inducible kinase 3, SIK3, is a new gene associated with hearing. | Wolber LE et al. | β | 2014 | β |
| Selectivity in genetic association with sub-classified migraine in women. | Chasman DI et al. | β | 2014 | β |
| Smoking and risk of multiple sclerosis: evidence of modification by NAT1 variants. | Briggs FB et al. | β | 2014 | β |
| The clinical and genetic features of COPD-asthma overlap syndrome. | Hardin M et al. | β | 2014 | β |
| The effects of microsatellite selection on linked sequence diversity. | Haasl RJ et al. | β | 2014 | β |
| Trans-ethnic meta-analysis of white blood cell phenotypes. | Keller MF et al. | β | 2014 | β |
| Value of Mendelian laws of segregation in families: data quality control, imputation, and beyond. | Blue EM et al. | β | 2014 | β |
| Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. | Du M et al. | β | 2014 | β |
| Whole-genome haplotyping approaches and genomic medicine. | Glusman G et al. | β | 2014 | β |