Fast and accurate genotype imputation in genome-wide association studies through pre-phasing.
paper
Cited
Public
- Authors
- Howie, Bryan; Fuchsberger, Christian; Stephens, Matthew; Marchini, Jonathan; Abecasis, Gonçalo R
- Year
- 2012
- Journal
- Nature genetics
- PMID
- 22820512
- DOI
- 10.1038/ng.2354
- PMCID
- PMC3696580
The 1000 Genomes Project and disease-specific sequencing efforts are producing large collections of haplotypes that can be used as reference panels for genotype imputation in genome-wide association studies (GWAS). However, imputing from large reference panels with existing methods imposes a high computational burden. We introduce a strategy called 'pre-phasing' that maintains the accuracy of leading methods while reducing computational costs. We first statistically estimate the haplotypes for each individual within the GWAS sample (pre-phasing) and then impute missing genotypes into these estimated haplotypes. This reduces the computational cost because (i) the GWAS samples must be phased only once, whereas standard methods would implicitly repeat phasing with each reference panel update, and (ii) it is much faster to match a phased GWAS haplotype to one reference haplotype than to match two unphased GWAS genotypes to a pair of reference haplotypes. We implemented our approach in the MaCH and IMPUTE2 frameworks, and we tested it on data sets from the Wellcome Trust Case Control Consortium 2 (WTCCC2), the Genetic Association Information Network (GAIN), the Women's Health Initiative (WHI) and the 1000 Genomes Project. This strategy will be particularly valuable for repeated imputation as reference panels evolve.
Imputation schematic. Each box represents a genetic dataset and each arrow represents an analysis step. The sizes of the boxes reflect the relative numbers of genotypes they contain, and the widths of the arrows reflect the relative computational costs of the analyses. Given a single GWAS dataset (red box), successively larger reference panels (blue boxes) lead to larger and more accurate imputed datasets (orange boxes). The computational cost of imputation is much lower when using pre-phased GWAS haplotypes (green box, right-hand side) than when using traditional imputation approaches (left-hand side).
| # | Section | Preview |
|---|---|---|
| 20 | Online Methods β WHI Dataset | We obtained genotype data for the Womenβs Health Initiative (WHI)19 study from dbGaPβ¦ |
| 21 | Online Methods β Phasing | Haplotyping approaches such as those implemented in MaCH and IMPUTE2 proceed through a series ofβ¦ |
| 22 | Online Methods β Imputation into Phased Haplotypes | When GWAS genotypes have been phased prior to imputation, each haplotype can be imputed separatelyβ¦ |
| 23 | Online Methods β Computational Costs | Many existing imputation methods (e.g., MaCH and IMPUTE1) use analytical integration to account forβ¦ |
| 24 | Online Methods β Computational Costs | IMPUTE2 aims to reduce the computing burden through a Monte Carlo algorithm that separates theβ¦ |
| 25 | Online Methods β Computational Costs | Like the IMPUTE2 Monte Carlo algorithm, pre-phasing separates the phasing and imputation steps whenβ¦ |
β Prev
21β26 of 26
| Name | Type |
|---|---|
| 1000 Genomes Phase I local | cohort |
| 1000 Genomes Pilot data local | drug |
| 1000 Genomes Project | cohort |
| 1958 British Birth Cohort | cohort |
| Affymetrix 500k array local | drug |
| Affymetrix 500k SNP array local | drug |
| Affymetrix 6.0 | drug |
| African American | cohort |
| analytical approach local | drug |
| array SNPs local | variant |
| CEU individuals local | cohort |
| complex disease genetics local | phenotype |
| copy number variants | variant |
| EUR | cohort |
| EUR cross-validation local | cohort |
| European GWAS datasets local | cohort |
| EUR panel local | cohort |
| family members | cohort |
| Finnish cohort | cohort |
| FUSION study local | cohort |
| FUSION Study local | cohort |
| GAIN | cohort |
| GAIN dataset | cohort |
| GAIN psoriasis study local | cohort |
| GWAS | cohort |
| Illumina 1.2 M SNP array local | drug |
| Illumina Human-Hap300 BeadChip v1.1 local | drug |
| imputation | drug |
| imputation software local | drug |
| IMPUTE1 local | drug |
| Impute2 | drug |
| indel | variant |
| latest 1000 Genomes panel local | drug |
| MaCH | drug |
| minimac3 | drug |
| normal glucose tolerance local | phenotype |
| population phasing local | drug |
| pre-phased haplotypes local | drug |
| pre-phasing | drug |
| pre-phasing approach local | drug |
| pre-phasing strategy local | drug |
| psoriasis local | phenotype |
| rare variant | cohort |
| reference panel | cohort |
| reference panels local | drug |
| sequence SNPs local | variant |
| SHAPEIT17 local | drug |
| SNP | cohort |
| type 2 diabetes | phenotype |
| Wellcome Trust Case Control Consortium 2 | cohort |
| WHI | cohort |
| WHI GWAS of African Americans local | cohort |
| Womenβs Health Initiative local | cohort |
| Womenβs Health Initiative (WHI) local | cohort |
| WTCCC2 | cohort |
| WTCCC2 SNPs local | variant |
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| Polygenic influences on the behavioral effects of alcohol withdrawal in a mixed-ancestry population from the collaborative study on the genetics of alcoholism (COGA). | Benca-Bachman CE et al. | β | 2023 | β |
| Polygenic risk alters the penetrance of monogenic kidney disease. | Khan A et al. | β | 2023 | β |
| PsychArray-Based Genome Wide Association Study of Suicidal Deaths in India. | Behera C et al. | β | 2023 | β |
| Reconstruction of private genomes through reference-based genotype imputation. | Mosca MJ et al. | β | 2023 | β |
| Refphase: Multi-sample phasing reveals haplotype-specific copy number heterogeneity. | Watkins TBK et al. | β | 2023 | β |
| Research Progress of Cell-Free Fetal DNA in Non-Invasive Prenatal Diagnosis of Thalassemia. | Liu D et al. | β | 2023 | β |
| Risk HLA Variants Affect the T-Cell Repertoire in Multiple Sclerosis. | Sorosina M et al. | β | 2023 | β |
| Sequence-based GWAS meta-analyses for beef production traits. | Sanchez MP et al. | β | 2023 | β |
| Statistical phasing of 150,119 sequenced genomes in the UK Biobank. | Browning BL et al. | β | 2023 | β |
| The Michigan Genomics Initiative: A biobank linking genotypes and electronic clinical records in Michigan Medicine patients. | Zawistowski M et al. | β | 2023 | β |
| The miR-124-AMPAR pathway connects polygenic risks with behavioral changes shared between schizophrenia and bipolar disorder. | Namkung H et al. | β | 2023 | β |
| The solution surface of the Li-Stephens haplotype copying model. | Jin Y et al. | β | 2023 | β |
| The SWine IMputation (SWIM) haplotype reference panel enables nucleotide resolution genetic mapping in pigs. | Ding R et al. | β | 2023 | β |
| USP7/Maged1-mediated H2AΒ monoubiquitination in the paraventricular thalamus: an epigenetic mechanism involved in cocaine use disorder. | Cheron J et al. | β | 2023 | β |
| X-linked genes influence various complex traits in dairy cattle. | Sanchez MP et al. | β | 2023 | β |
| 17q12-21 risk-variants influence cord blood immune regulation and multitrigger-wheeze. | Laubhahn K et al. | β | 2022 | β |
| A comparative analysis of current phasing and imputation software. | De Marino A et al. | β | 2022 | β |
| A comprehensive evaluation of polygenic score and genotype imputation performances of human SNP arrays in diverse populations. | Nguyen DT et al. | β | 2022 | β |
| A flexible summary statistics-based colocalization method with application to the mucin cystic fibrosis lung disease modifier locus. | Wang F et al. | β | 2022 | β |
| A genome-wide association study for melatonin secretion. | Liu PH et al. | β | 2022 | β |
| A microRNA Transcriptome-wide Association Study of Prostate Cancer Risk. | Larson NB et al. | β | 2022 | β |
| Analysis of germline-driven ancestry-associated gene expression in cancers. | Chambwe N et al. | β | 2022 | β |
| Analysis of merged transcriptomic and genomic datasets to identify genes and pathways underlying residual feed intake in growing pigs. | Ibragimov E et al. | β | 2022 | β |
| Analytic pipelines to assess the relationship between immune response and germline genetics in human tumors. | Sayaman RW et al. | β | 2022 | β |
| Apolipoprotein A-V is a potential target for treating coronary artery disease: evidence from genetic and metabolomic analyses. | Ibi D et al. | β | 2022 | β |
| Association of Chronic Kidney Disease With Risk of Intracerebral Hemorrhage. | Vanent KN et al. | β | 2022 | β |
| Associations between depression and cardiometabolic health: A 27-year longitudinal study. | Ditmars HL et al. | β | 2022 | β |
| Bayesian model and selection signature analyses reveal risk factors for canine atopic dermatitis. | Tengvall K et al. | β | 2022 | β |
| Benchmarking phasing software with a whole-genome sequenced cattle pedigree. | Oget-Ebrad C et al. | β | 2022 | β |
| Classification of early age facial growth pattern and identification of the genetic basis in two Korean populations. | Cha MY et al. | β | 2022 | β |
| Combined effects of host genetics and diet on human gut microbiota and incident disease in a single population cohort. | Qin Y et al. | β | 2022 | β |
| Contribution and clinical relevance of germline variation to the cancer transcriptome. | Pereira B et al. | β | 2022 | β |
| Deep learning predicts DNA methylation regulatory variants in the human brain and elucidates the genetics of psychiatric disorders. | Zhou J et al. | β | 2022 | β |
| Demographic history differences between Hispanics and Brazilians imprint haplotype features. | da Cruz PRS et al. | β | 2022 | β |
| Development and validation of polygenic risk scores for prediction of breast cancer and breast cancer subtypes in Chinese women. | Hou C et al. | β | 2022 | β |
| Dissecting the genetic architecture of suicide attempt and repeated attempts in Korean patients with bipolar disorder using polygenic risk scores. | Lee D et al. | β | 2022 | β |
| Effects of polygenic risk for major mental disorders and cross-disorder on cortical complexity. | Schmitt S et al. | β | 2022 | β |
| Evaluation of vicinity-based hidden Markov models for genotype imputation. | Wang S et al. | β | 2022 | β |
| fdrci: FDR confidence interval selection and adjustment for large-scale hypothesis testing. | Millstein J et al. | β | 2022 | β |
| Functionally prioritised whole-genome sequence variants improve the accuracy of genomic prediction for heat tolerance. | Cheruiyot EK et al. | β | 2022 | β |
| Gene Set Enrichment Analysis Detected Immune Cell-Related Pathways Associated with Primary Sclerosing Cholangitis. | Luo P et al. | β | 2022 | β |
| Genetic analysis of dietary intake identifies new loci and functional links with metabolic traits. | Merino J et al. | β | 2022 | β |
| Genetic correlates of phenotypic heterogeneity in autism. | Warrier V et al. | β | 2022 | β |
| Genetic regulation of serum IgA levels and susceptibility to common immune, infectious, kidney, and cardio-metabolic traits. | Liu L et al. | β | 2022 | β |
| Genome-Wide Admixture Mapping of Estimated Glomerular Filtration Rate and Chronic Kidney Disease Identifies European and African Ancestry-of-Origin Loci in Hispanic and Latino Individuals in the United States. | Horimoto ARVR et al. | β | 2022 | β |
| Genome-wide association and genotype by environment interactions for growth traits in U.S. Red Angus cattle. | Smith JL et al. | β | 2022 | β |
| Genome-wide association study of actinic keratosis identifies new susceptibility loci implicated in pigmentation and immune regulation pathways. | Kim Y et al. | β | 2022 | β |
| Genome-Wide Association Study of Campylobacter<i>-</i>Positive Diarrhea Identifies Genes Involved in Toxin Processing and Inflammatory Response. | Munday RM et al. | β | 2022 | β |
| Genome-wide association study of platelet factor 4/heparin antibodies in heparin-induced thrombocytopenia. | Giles JB et al. | β | 2022 | β |
| Genome-Wide Causation Studies of Complex Diseases. | Jiao R et al. | β | 2022 | β |
| Genome-wide discovery for diabetes-dependent triglycerides-associated loci. | Selvaraj MS et al. | β | 2022 | β |
| Genome-Wide Integration of Genetic and Genomic Studies of Atopic Dermatitis: Insights into Genetic Architecture and Pathogenesis. | Chen Y et al. | β | 2022 | β |
| Genome-wide meta-analysis of alcohol use disorder in East Asians. | Zhou H et al. | β | 2022 | β |
| Genotype error biases trio-based estimates of haplotype phase accuracy. | Browning BL et al. | β | 2022 | β |
| Genotyping, the Usefulness of Imputation to Increase SNP Density, and Imputation Methods and Tools. | Phocas F | β | 2022 | β |
| GWAS meta-analysis followed by Mendelian randomization revealed potential control mechanisms for circulating Ξ±-Klotho levels. | Gergei I et al. | β | 2022 | β |
| Identification of a Novel Functional Non-synonymous Single Nucleotide Polymorphism in Frizzled Class Receptor 6 Gene for Involvement in Depressive Symptoms. | Han H et al. | β | 2022 | β |
| Identification of genetic effects underlying type 2 diabetes in South Asian and European populations. | Loh M et al. | β | 2022 | β |
| Identification of Shared and Asian-Specific Loci for Systemic Lupus Erythematosus and Evidence for Roles of Type III Interferon Signaling and Lysosomal Function in the Disease: A Multi-Ancestral Genome-Wide Association Study. | Wang YF et al. | β | 2022 | β |
| Impact of polygenic risk for coronary artery disease and cardiovascular medication burden on cognitive impairment in psychotic disorders. | Zhang L et al. | β | 2022 | β |
| Interpretation of Manhattan Plots and Other Outputs of Genome-Wide Association Studies. | Wang J et al. | β | 2022 | β |
| Leveraging large multi-center cohorts of Alzheimer disease endophenotypes to understand the role of Klotho heterozygosity on disease risk. | Ali M et al. | β | 2022 | β |
| Mendelian imputation of parental genotypes improves estimates of direct genetic effects. | Young AI et al. | β | 2022 | β |
| Methylation quantitative trait loci are largely consistent across disease states in Crohn's disease. | Venkateswaran S et al. | β | 2022 | β |
| On the way to plant data commons - a genotyping use case. | Feser M et al. | β | 2022 | β |
| Polygenic Risk for Schizophrenia Has Sex-Specific Effects on Brain Activity during Memory Processing in Healthy Individuals. | Koch E et al. | β | 2022 | β |
| Polygenic Risk Scores Associated with Tumor Immune Infiltration in Common Cancers. | Choi J et al. | β | 2022 | β |
| Prenatal Exposure to Traffic-Related Air Pollution and the DNA Methylation in Cord Blood Cells: MOCEH Study. | Park J et al. | β | 2022 | β |
| Privacy-preserving genotype imputation with fully homomorphic encryption. | GΓΌrsoy G et al. | β | 2022 | β |
| Quality Control Procedures for Genome-Wide Association Studies. | Truong VQ et al. | β | 2022 | β |
| Rest-activity rhythms and cognitive impairment and dementia in older women: Results from the Women's Health Initiative. | Xiao Q et al. | β | 2022 | β |
| Schizophrenia polygenic risk is associated with child mental health problems through early childhood adversity: evidence for a gene-environment correlation. | Bolhuis K et al. | β | 2022 | β |
| Sodium-calcium exchanger-3 regulates pain "wind-up": From human psychophysics to spinal mechanisms. | Trendafilova T et al. | β | 2022 | β |
| Splenic clearance of rigid erythrocytes as an inherited mechanism for splenomegaly and natural resistance to malaria. | Henry B et al. | β | 2022 | β |
| Strengthening Causal Inference in Exposomics Research: Application of Genetic Data and Methods. | Avery CL et al. | β | 2022 | β |
| The APOE locus is linked to decline in general cognitive function: 20-years follow-up in the Doetinchem Cohort Study. | Rietman ML et al. | β | 2022 | β |
| The construction of a haplotype reference panel using extremely low coverage whole genome sequences and its application in genome-wide association studies and genomic prediction in Duroc pigs. | Zhang Z et al. | β | 2022 | β |
| The hazards of genotype imputation in chromosomal regions under selection: A case study using the Lactase gene region. | Ali AT et al. | β | 2022 | β |
| The Socioeconomic Gradient in Epigenetic Ageing Clocks: Evidence from the Multi-Ethnic Study of Atherosclerosis and the Health and Retirement Study. | Schmitz LL et al. | β | 2022 | β |
| Accelerated deciphering of the genetic architecture of agricultural economic traits in pigs using a low-coverage whole-genome sequencing strategy. | Yang R et al. | β | 2021 | β |
| Accuracy of genotype imputation based on reference population size and marker density in Hanwoo cattle. | Lee D et al. | β | 2021 | β |
| A conditional multi-trait sequence GWAS discovers pleiotropic candidate genes and variants for sheep wool, skin wrinkle and breech cover traits. | Bolormaa S et al. | β | 2021 | β |
| A genome-wide association study identifies novel gene associations with facial skin wrinkling and mole count in Latin Americans. | Chen Y et al. | β | 2021 | β |
| A genome-wide association study reveals a substantial genetic basis underlying the Ebbinghaus illusion. | Zhu Z et al. | β | 2021 | β |
| A GWAS in Latin Americans identifies novel face shape loci, implicating VPS13B and a Denisovan introgressed region in facial variation. | Bonfante B et al. | β | 2021 | β |
| A Multiancestry Sex-Stratified Genome-Wide Association Study of Spontaneous Clearance of Hepatitis C Virus. | Vergara C et al. | β | 2021 | β |
| A multi-ethnic genome-wide association study implicates collagen matrix integrity and cell differentiation pathways in keratoconus. | Hardcastle AJ et al. | β | 2021 | β |
| A pipeline for RNA-seq based eQTL analysis with automated quality control procedures. | Wang T et al. | β | 2021 | β |
| Artificial image objects for classification of schizophrenia with GWAS-selected SNVs and convolutional neural network. | Chen X et al. | β | 2021 | β |
| Association between ABO and Duffy blood types and circulating chemokines and cytokines. | Van Alsten SC et al. | β | 2021 | β |
| Association between ALDH2 and ADH1B Polymorphisms and the Risk for Colorectal Cancer in Koreans. | Choi CK et al. | β | 2021 | β |
| Association of an IGHV3-66 gene variant with Kawasaki disease. | Johnson TA et al. | β | 2021 | β |
| Bipolar multiplex families have an increased burden of common risk variants for psychiatric disorders. | Andlauer TFM et al. | β | 2021 | β |
| Brain network dynamics during working memory are modulated by dopamine and diminished in schizophrenia. | Braun U et al. | β | 2021 | β |
| Clinical and genetic differences between bipolar disorder type 1 and 2 in multiplex families. | Guzman-Parra J et al. | β | 2021 | β |
| Collection of genetic data at scale for a nationally representative population: the UK Millennium Cohort Study. | Fitzsimons E et al. | β | 2021 | β |
| Common Variation in Cytoskeletal Genes is Associated with Conotruncal Heart Defects. | Musfee FI et al. | β | 2021 | β |
| Comparing low-pass sequencing and genotyping for trait mapping in pharmacogenetics. | Wasik K et al. | β | 2021 | β |
| Detecting rare copy number variants from Illumina genotyping arrays with the CamCNV pipeline: Segmentation ofΒ z-scores improves detection and reliability. | Dennis J et al. | β | 2021 | β |
| Developing a clinical-environmental-genotypic prognostic index for relapsing-onset multiple sclerosis and clinically isolated syndrome. | Fuh-Ngwa V et al. | β | 2021 | β |
| Development of genome-wide polygenic risk scores for lipid traits and clinical applications for dyslipidemia, subclinical atherosclerosis, and diabetes cardiovascular complications among East Asians. | Tam CHT et al. | β | 2021 | β |
| Discovery and fine-mapping of kidney function loci in first genome-wide association study in Africans. | Fatumo S et al. | β | 2021 | β |
| Estimating heritability and its enrichment in tissue-specific gene sets in admixed populations. | Luo Y et al. | β | 2021 | β |
| Ethnic and trans-ethnic genome-wide association studies identify new loci influencing Japanese Alzheimer's disease risk. | Shigemizu D et al. | β | 2021 | β |
| Evaluating the role of alcohol consumption in breast and ovarian cancer susceptibility using population-based cohort studies and two-sample Mendelian randomization analyses. | Ong JS et al. | β | 2021 | β |
| Exome sequencing and analysis of 454,787 UK Biobank participants. | Backman JD et al. | β | 2021 | β |
| Fast and Scalable Private Genotype Imputation Using Machine Learning and Partially Homomorphic Encryption. | Sarkar E et al. | β | 2021 | β |
| Fast two-stage phasing of large-scale sequence data. | Browning BL et al. | β | 2021 | β |
| Further host-genomic characterization of total antibody response to PRRSV vaccination and its relationship with reproductive performance in commercial sows: genome-wide haplotype and zygosity analyses. | Sanglard LP et al. | β | 2021 | β |
| Generative network models of altered structural brain connectivity in schizophrenia. | Zhang X et al. | β | 2021 | β |
| Genetic and functional evidence links a missense variant in <i>B4GALT1</i> to lower LDL and fibrinogen. | Montasser ME et al. | β | 2021 | β |
| Genetic association and characterization of FSTL5 in isolated clubfoot. | Khanshour AM et al. | β | 2021 | β |
| Genetic discovery and risk characterization in type 2 diabetes across diverse populations. | Polfus LM et al. | β | 2021 | β |
| Genetic factors influencing a neurobiological substrate for psychiatric disorders. | Andlauer TFM et al. | β | 2021 | β |
| Genetics of PlGF plasma levels highlights a role of its receptors and supports the link between angiogenesis and immunity. | Ruggiero D et al. | β | 2021 | β |
| Genetic variant in <i>microRNA-146a</i> gene is associated with risk of rheumatoid arthritis. | Zhang LL et al. | β | 2021 | β |
| Genetic Variation in WNT9B Increases Relapse Hazard in Multiple Sclerosis. | Vandebergh M et al. | β | 2021 | β |
| Genetic variations of DNA bindings of FOXA1 and co-factors in breast cancer susceptibility. | Wen W et al. | β | 2021 | β |
| Genome-wide association studies identify two novel loci conferring susceptibility to diabetic retinopathy in Japanese patients with type 2 diabetes. | Imamura M et al. | β | 2021 | β |
| Genome-wide association study accounting for anticholinergic burden to examine cognitive dysfunction in psychotic disorders. | Eum S et al. | β | 2021 | β |
| Genome-Wide Association Study for Body Length, Body Height, and Total Teat Number in Large White Pigs. | Hong Y et al. | β | 2021 | β |
| Genome-wide association study identifies 48 common genetic variants associated with handedness. | Cuellar-Partida G et al. | β | 2021 | β |
| Genome-wide association study identifies a novel maternal geneβΓβstress interaction associated with spontaneous preterm birth. | Hong X et al. | β | 2021 | β |
| Genome-wide association study of circulating interleukin 6 levels identifies novel loci. | Ahluwalia TS et al. | β | 2021 | β |
| Genome-Wide Association Study of Pelvic Organ Prolapse Using the Michigan Genomics Initiative. | Cox CK et al. | β | 2021 | β |
| Genome-wide association study of phenotypes measuring progression from first cocaine or opioid use to dependence reveals novel risk genes. | Sherva R et al. | β | 2021 | β |
| Genome-wide association study of stimulant dependence. | Cox J et al. | β | 2021 | β |
| Genome-wide association study of vitamin D concentrations and bone mineral density in the African American-Diabetes Heart Study. | Palmer ND et al. | β | 2021 | β |
| Genome-wide fine-mapping identifies pleiotropic and functional variants that predict many traits across global cattle populations. | Xiang R et al. | β | 2021 | β |
| Germline genetic contribution to the immune landscape of cancer. | Sayaman RW et al. | β | 2021 | β |
| Highly accurate whole-genome imputation of SARS-CoV-2 from partial or low-quality sequences. | OrtuΓ±o FM et al. | β | 2021 | β |
| HLA-DQB1 6672G>C (rs113332494) is associated with clozapine-induced neutropenia and agranulocytosis in individuals of European ancestry. | Konte B et al. | β | 2021 | β |
| Human genomics of the humoral immune response against polyomaviruses. | Hodel F et al. | β | 2021 | β |
| Identification of 38 novel loci for systemic lupus erythematosus and genetic heterogeneity between ancestral groups. | Wang YF et al. | β | 2021 | β |
| Identifying novel genetic variants for brain amyloid deposition: a genome-wide association study in the Korean population. | Kim HR et al. | β | 2021 | β |
| Immunity and amyloid beta, total tau and neurofilament light chain: Findings from a community-based cohort study. | Fani L et al. | β | 2021 | β |
| Impact of pre- and post-variant filtration strategies on imputation. | Charon C et al. | β | 2021 | β |
| Imputation accuracy to whole-genome sequence in Nellore cattle. | Fernandes JΓΊnior GA et al. | β | 2021 | β |
| Imputation Performance in Latin American Populations: Improving Rare Variants Representation With the Inclusion of Native American Genomes. | JimΓ©nez-Kaufmann A et al. | β | 2021 | β |
| Inference of Ancestries and Heterozygosity Proportion and Genotype Imputation in West African Cattle Populations. | Gebrehiwot NZ et al. | β | 2021 | β |
| Integration of genome-wide association study and expression quantitative trait locus mapping for identification of endometriosis-associated genes. | Chou YC et al. | β | 2021 | β |
| Interaction of developmental factors and ordinary stressful life events on brain structure in adults. | Ringwald KG et al. | β | 2021 | β |
| Large-scale association analyses identify host factors influencing human gut microbiome composition. | Kurilshikov A et al. | β | 2021 | β |
| Machine learning based disease prediction from genotype data. | Katsaouni N et al. | β | 2021 | β |
| Mendelian randomisation study of smoking exposure in relation to breast cancer risk. | Park HA et al. | β | 2021 | β |
| Meta-analysis of genome-wide association studies reveal common loci controlling agronomic and quality traits in a wide range of normal and heat stressed environments. | Joukhadar R et al. | β | 2021 | β |
| Meta-analysis of sample-level dbGaP data reveals novel shared genetic link between body height and Crohn's disease. | Di Narzo A et al. | β | 2021 | β |
| Modeling transcriptional regulation using gene regulatory networks based on multi-omics data sources. | Patel N et al. | β | 2021 | β |
| Multi-omics analysis to identify susceptibility genes for colorectal cancer. | Yuan Y et al. | β | 2021 | β |
| Mutant alleles differentially shape fitness and other complex traits in cattle. | Xiang R et al. | β | 2021 | β |
| New loci and neuronal pathways for resilience to heat stress in cattle. | Cheruiyot EK et al. | β | 2021 | β |
| Novel susceptibility loci identified in a genome-wide association study of type 2 diabetes complications in population of Latvia. | Ustinova M et al. | β | 2021 | β |
| On the use of whole-genome sequence data for across-breed genomic prediction and fine-scale mapping of QTL. | Meuwissen T et al. | β | 2021 | β |
| Pharmacogenomics of the Efficacy and Safety of Colchicine in COLCOT. | DubΓ© MP et al. | β | 2021 | β |
| Pleiotropy of systemic lupus erythematosus risk alleles and cardiometabolic disorders: A phenome-wide association study and inverse-variance weighted meta-analysis. | Kawai VK et al. | β | 2021 | β |
| Predicting Conversion from MCI to AD Combining Multi-Modality Data and Based on Molecular Subtype. | Li HT et al. | β | 2021 | β |
| Recent innovations and in-depth aspects of post-genome wide association study (Post-GWAS) to understand the genetic basis of complex phenotypes. | Mortezaei Z et al. | β | 2021 | β |
| Sequence-based GWAS and post-GWAS analyses reveal a key role of SLC37A1, ANKH, and regulatory regions on bovine milk mineral content. | Sanchez MP et al. | β | 2021 | β |
| Sex-specific effects of polygenic risk for schizophrenia on lifespan cognitive functioning in healthy individuals. | Koch E et al. | β | 2021 | β |
| Sexual dimorphism in cancer: insights from transcriptional signatures in kidney tissue and renal cell carcinoma. | Laskar RS et al. | β | 2021 | β |
| Single-Cell Epigenomics and Functional Fine-Mapping of Atherosclerosis GWAS Loci. | Γrd T et al. | β | 2021 | β |
| Single-Cell RNA Sequencing in Parkinson's Disease. | Ma SX et al. | β | 2021 | β |
| Systematic evaluation of the effects of genetic variants on PIWI-interacting RNA expression across 33 cancer types. | Xin J et al. | β | 2021 | β |
| TCERG1L allelic variation is associated with cisplatin-induced hearing loss in childhood cancer, a PanCareLIFE study. | Meijer AJM et al. | β | 2021 | β |
| The Evolutionary Dynamics of Genetic Incompatibilities Introduced by Duplicated Genes in Arabidopsis thaliana. | Jiao WB et al. | β | 2021 | β |
| The Impact of Ethnicity and Genetic Ancestry on Disease Prevalence and Risk in Colombia. | Chande AT et al. | β | 2021 | β |
| The impact of non-additive genetic associations on age-related complex diseases. | Guindo-MartΓnez M et al. | β | 2021 | β |
| The interactions between genetics and early childhood nutrition influence adult cardiometabolic risk factors. | Wang CA et al. | β | 2021 | β |
| Triglyceride-lowering LPL alleles combined with LDL-C-lowering alleles are associated with an additively improved lipoprotein profile. | Ibi D et al. | β | 2021 | β |
| Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation. | Kim M et al. | β | 2021 | β |
| Using a developmental perspective to examine the moderating effects of marriage on heavy episodic drinking in a young adult sample enriched for risk. | Cho SB et al. | β | 2021 | β |
| Why are rare variants hard to impute? Coalescent models reveal theoretical limits in existing algorithms. | Si Y et al. | β | 2021 | β |
| Activation of cryptic splicing in bovine WDR19 is associated with reduced semen quality and male fertility. | Hiltpold M et al. | β | 2020 | β |
| Adapting Genotyping-by-Sequencing and Variant Calling for Heterogeneous Stock Rats. | Gileta AF et al. | β | 2020 | β |
| Additive and Multiplicative Interactions Between Genetic Risk Score and Family History and Lifestyle in Relation to Risk of Type 2 Diabetes. | Ding M et al. | β | 2020 | β |
| A Fast and Simple Method for Detecting Identity-by-Descent Segments in Large-Scale Data. | Zhou Y et al. | β | 2020 | β |
| A genome-wide association study on medulloblastoma. | Dahlin AM et al. | β | 2020 | β |
| A large-scale genetic correlation scan identified the plasma proteins associated with brain function related traits. | Liang C et al. | β | 2020 | β |
| Alzheimer Disease Pathology-Associated Polymorphism in a Complex Variable Number of Tandem Repeat Region Within the MUC6 Gene, Near the AP2A2 Gene. | Katsumata Y et al. | β | 2020 | β |
| A Mendelian randomization of Ξ³' and total fibrinogen levels in relation to venous thromboembolism and ischemic stroke. | Maners J et al. | β | 2020 | β |
| A multiethnic genome-wide analysis of 44,039 individuals identifies 41 new loci associated with central corneal thickness. | Choquet H et al. | β | 2020 | β |
| An integrative multi-omics network-based approach identifies key regulators for breast cancer. | Chen YX et al. | β | 2020 | β |
| ANOVA-HD: Analysis of variance when both input and output layers are high-dimensional. | de Los Campos G et al. | β | 2020 | β |
| Association Analysis and Meta-Analysis of Multi-Allelic Variants for Large-Scale Sequence Data. | Jiang Y et al. | β | 2020 | β |
| Association of Uncommon, Noncoding Variants in the APOE Region With Risk of Alzheimer Disease in Adults of European Ancestry. | Blue EE et al. | β | 2020 | β |
| A Unifying Framework for Imputing Summary Statistics in Genome-Wide Association Studies. | Wu Y et al. | β | 2020 | β |
| A variant-centric perspective on geographic patterns of human allele frequency variation. | Biddanda A et al. | β | 2020 | β |
| A whole-genome sequenced control population in northern Sweden reveals subregional genetic differences. | Svensson D et al. | β | 2020 | β |
| CDH6 and HAGH protein levels in plasma associate with Alzheimer's disease in APOE Ξ΅4 carriers. | Ahmad S et al. | β | 2020 | β |
| Claudin-2 deficiency associates with hypercalciuria in mice and human kidney stone disease. | Curry JN et al. | β | 2020 | β |
| Common variants in SOX-2 and congenital cataract genes contribute to age-related nuclear cataract. | Yonova-Doing E et al. | β | 2020 | β |
| COMT-Polymorphisms Modulated Functional Profile of the Fusiform Face Area Contributes to Face-Specific Recognition Ability. | Wu C et al. | β | 2020 | β |
| Cytokine-induced molecular responses in airway smooth muscle cells inform genome-wide association studies of asthma. | Thompson EE et al. | β | 2020 | β |
| Dissecting clinical heterogeneity of bipolar disorder using multiple polygenic risk scores | Coombes BJ et al. | β | 2020 | β |
| Dissecting clinical heterogeneity of bipolar disorder using multiple polygenic risk scores. | Coombes BJ et al. | β | 2020 | β |
| Distinct genetic architectures and environmental factors associate with host response to the Ξ³2-herpesvirus infections. | Sallah N et al. | β | 2020 | β |
| Effect direction meta-analysis of GWAS identifies extreme, prevalent and shared pleiotropy in a large mammal. | Xiang R et al. | β | 2020 | β |
| Effects of Mu-Opiate Receptor Gene Polymorphism rs1799971 (A118G) on the Antidepressant and Dissociation Responses in Esketamine Nasal Spray Clinical Trials. | Saad Z et al. | β | 2020 | β |
| Endogenization and excision of human herpesvirus 6 in human genomes. | Liu X et al. | β | 2020 | β |
| European genetic ancestry associated with risk of childhood ependymoma. | Zhang C et al. | β | 2020 | β |
| Evaluating the Correlations Between Osteoporosis and Lifestyle-Related Factors Using Transcriptome-Wide Association Study. | Du Y et al. | β | 2020 | β |
| Evaluation of associations between genetically predicted circulating protein biomarkers and breast cancer risk. | Shu X et al. | β | 2020 | β |
| Evaluation of mitochondrial DNA copy number estimation techniques. | Longchamps RJ et al. | β | 2020 | β |
| Fine-mapping of 150 breast cancer risk regions identifies 191 likely target genes. | Fachal L et al. | β | 2020 | β |
| Functional validity, role, and implications of heavy alcohol consumption genetic loci. | Thompson A et al. | β | 2020 | β |
| GEN2VCF: a converter for human genome imputation output format to VCF format. | Shin DM et al. | β | 2020 | β |
| Gene-based analyses of the maternal genome implicate maternal effect genes as risk factors for conotruncal heart defects. | Sewda A et al. | β | 2020 | β |
| Gene networks for three feed efficiency criteria reveal shared and specific biological processes. | Taussat S et al. | β | 2020 | β |
| Genetically Elevated LDL Associates with Lower Risk of Intracerebral Hemorrhage. | Falcone GJ et al. | β | 2020 | β |
| Genetic analyses support the contribution of mRNA N<sup>6</sup>-methyladenosine (m<sup>6</sup>A) modification to human disease heritability. | Zhang Z et al. | β | 2020 | β |
| Genetic Architecture of Abdominal Aortic Aneurysm in the Million Veteran Program. | Klarin D et al. | β | 2020 | β |
| Genetic Determinants of Lung Cancer Prognosis in Never Smokers: A Pooled Analysis in the International Lung Cancer Consortium. | Brhane Y et al. | β | 2020 | β |
| Genetic predisposition to longer telomere length and risk of childhood, adolescent and adult-onset ependymoma. | Zhang C et al. | β | 2020 | β |
| Genetic Underpinnings of Increased BMI and Its Association With Late Midlife Cognitive Abilities. | Xian H et al. | β | 2020 | β |
| Genetic variants beyond amyloid and tau associated with cognitive decline: A cohort study. | Kim HR et al. | β | 2020 | β |
| Genome-wide association study for circulating fibroblast growth factor 21 and 23. | Chuang GT et al. | β | 2020 | β |
| Genome-wide association study for time to failure of kidney transplants from African American deceased donors. | Divers J et al. | β | 2020 | β |
| Genome-wide association study identifies 16 genomic regions associated with circulating cytokines at birth. | Wang Y et al. | β | 2020 | β |
| Genome-wide association study in a Korean population identifies six novel susceptibility loci for rheumatoid arthritis. | Kwon YC et al. | β | 2020 | β |
| Genome-wide association study of Buruli ulcer in rural Benin highlights role of two LncRNAs and the autophagy pathway. | Manry J et al. | β | 2020 | β |
| Genome-Wide Association Study of Opioid Cessation. | Cox JW 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 Meta-Analyses of FTND and TTFC Phenotypes. | Chen J 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 |
| Genotype imputation using the Positional Burrows Wheeler Transform. | Rubinacci S et al. | β | 2020 | β |
| Haplotype-based genome-wide association increases the predictability of leaf rust (Puccinia triticina) resistance in wheat. | Liu F et al. | β | 2020 | β |
| Haplotype heterogeneity and low linkage disequilibrium reduce reliable prediction of genotypes for the βΞ± <sup>3.7I</sup> form of Ξ±-thalassaemia using genome-wide microarray data. | Ndila CM et al. | β | 2020 | β |
| Identification of 31 loci for mammographic density phenotypes and their associations with breast cancer risk. | Sieh W et al. | β | 2020 | β |
| Identification of Genetic Variants for Female Obesity and Evaluation of the Causal Role of Genetically Defined Obesity in Polycystic Ovarian Syndrome. | Ahn Y et al. | β | 2020 | β |
| Identification of new susceptibility loci associated with rheumatoid arthritis. | Leng RX et al. | β | 2020 | β |
| Identification of the ABCC4, IER3, and CBFA2T2 candidate genes for resistance to paratuberculosis from sequence-based GWAS in Holstein and Normande dairy cattle. | Sanchez MP et al. | β | 2020 | β |
| Improving Imputation Quality in BEAGLE for Crop and Livestock Data. | Pook T et al. | β | 2020 | β |
| Inclusion of endophenotypes in a standard GWAS facilitate a detailed mechanistic understanding of genetic elements that control blood lipid levels. | Zhang Q et al. | β | 2020 | β |
| Independent Replication on Genome-Wide Association Study Signals Identifies <i>IRF3</i> as a Novel Locus for Systemic Lupus Erythematosus. | Zhang F et al. | β | 2020 | β |
| Influence of Genetic Ancestry on Human Serum Proteome. | Sjaarda J 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 |
| Leveraging correlations between variants in polygenic risk scores to detect heterogeneity in GWAS cohorts. | Yuan J et al. | β | 2020 | β |
| Machine learning on genome-wide association studies to predict the risk of radiation-associated contralateral breast cancer in the WECARE Study. | Lee S et al. | β | 2020 | β |
| Mendelian randomization while jointly modeling cis genetics identifies causal relationships between gene expression and lipids. | van der Graaf A et al. | β | 2020 | β |
| Meta-analysis of genome-wide association study identifies FBN2 as a novel locus associated with systemic lupus erythematosus in Thai population. | Tangtanatakul P et al. | β | 2020 | β |
| Meta-analysis of GWAS in canola blackleg (Leptosphaeria maculans) disease traits demonstrates increased power from imputed whole-genome sequence. | Fikere M et al. | β | 2020 | β |
| Migraine Genetic Variants Influence Cerebral Blood Flow. | Knol MJ et al. | β | 2020 | β |
| Module Analysis Using Single-Patient Differential Expression Signatures Improves the Power of Association Studies for Alzheimer's Disease. | Huang J 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 |
| OPENMENDEL: a cooperative programming project for statistical genetics. | Zhou H et al. | β | 2020 | β |
| Optimizing genomic prediction for Australian Red dairy cattle. | van den Berg I et al. | β | 2020 | β |
| Pleiotropy in the Genetic Predisposition to Rheumatoid Arthritis: A Phenome-Wide Association Study and Inverse Variance-Weighted Meta-Analysis. | Kawai VK et al. | β | 2020 | β |
| Polygenic risk score of non-melanoma skin cancer predicts post-transplant skin cancer across multiple organ types. | Stapleton CP et al. | β | 2020 | β |
| Polygenic Risk Scores and Physical Activity. | Kujala UM et al. | β | 2020 | β |
| Polygenic Risk Scores for Subtyping of Schizophrenia. | Chen J et al. | β | 2020 | β |
| Polygenic Scores to Assess Atherosclerotic Cardiovascular Disease Risk: Clinical Perspectives and Basic Implications. | Aragam KG et al. | β | 2020 | β |
| Population genetics of the coral <i>Acropora millepora</i>: Toward genomic prediction of bleaching. | Fuller ZL et al. | β | 2020 | β |
| Precision medicine for pancreatic diseases. | Shelton CA et al. | β | 2020 | β |
| Prediction of Smoking Behavior From Single Nucleotide Polymorphisms With Machine Learning Approaches. | Xu Y et al. | β | 2020 | β |
| Prenatal Multivitamin Use and <i>MTHFR</i> Genotype Are Associated with Newborn Cord Blood DNA Methylation. | Bakulski KM et al. | β | 2020 | β |
| Prospective study of polygenic risk, protective factors, and incident depression following combat deployment in US Army soldiers. | Choi KW et al. | β | 2020 | β |
| Quantitative phenotype scan statistic (QPSS) reveals rare variant associations with Alzheimer's disease endophenotypes. | Katsumata Y 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 |
| Replication of FTO Gene associated with lean mass in a Meta-Analysis of Genome-Wide Association Studies. | Ran S et al. | β | 2020 | β |
| RICOPILI: Rapid Imputation for COnsortias PIpeLIne. | Lam M et al. | β | 2020 | β |
| Sex-Specific Genetic Associations for Barrett's Esophagus and Esophageal Adenocarcinoma. | Dong J et al. | β | 2020 | β |
| Shared genetic 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 |
| Systems Genetics in Human Endothelial Cells Identifies Non-coding Variants Modifying Enhancers, Expression, and Complex Disease Traits. | Stolze LK et al. | β | 2020 | β |
| The Duffy-null genotype and risk of infection. | Legge SE et al. | β | 2020 | β |
| The MUC6/AP2A2 Locus and Its Relevance toΒ Alzheimer's Disease: A Review. | Nelson PT et al. | β | 2020 | β |
| The Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and ChocΓ³, Colombia. | Chande AT et al. | β | 2020 | β |
| The polygenic architecture of left ventricular mass mirrors the clinical epidemiology. | Mosley JD et al. | β | 2020 | β |
| The TMEM106B FTLD-protective variant, rs1990621, is also associated with increased neuronal proportion. | Li Z et al. | β | 2020 | β |
| Treatment- and population-specific genetic risk factors for anti-drug antibodies against interferon-beta: a GWAS. | Andlauer TFM et al. | β | 2020 | β |
| Using Mendelian randomization to evaluate the causal relationship between serum C-reactive protein levels and age-related macular degeneration. | Han X et al. | β | 2020 | β |
| Validating the doubly weighted genetic risk score for the prediction of type 2 diabetes in the Lifelines and Estonian Biobank cohorts. | PΓ€rna K et al. | β | 2020 | β |
| 12 new susceptibility loci for prostate cancer identified by genome-wide association study in Japanese population. | Takata R et al. | β | 2019 | β |
| Accuracy of imputation to whole-genome sequence in sheep. | Bolormaa S et al. | β | 2019 | β |
| Admixture mapping identifies novel loci for obstructive sleep apnea in Hispanic/Latino Americans. | Wang H et al. | β | 2019 | β |
| Admixture mapping reveals evidence of differential multiple sclerosis risk by genetic ancestry. | Chi C et al. | β | 2019 | β |
| Adverse Health Outcomes in Relationship to Hypogonadism After Chemotherapy: A Multicenter Study of Testicular Cancer Survivors. | Abu Zaid M et al. | β | 2019 | 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 GWAS in Latin Americans highlights the convergent evolution of lighter skin pigmentation in Eurasia. | Adhikari K et al. | β | 2019 | β |
| Analysis of Heritability and Genetic Architecture of Pancreatic Cancer: A PanC4 Study. | Chen F et al. | β | 2019 | β |
| Apparent latent structure within the UK Biobank sample has implications for epidemiological analysis. | Haworth S et al. | β | 2019 | β |
| Association of Genetic Variants With Primary Open-Angle Glaucoma Among Individuals With African Ancestry. | Genetics of Glaucoma in People of African Descent (GGLAD) Consortium et al. | β | 2019 | β |
| Association of Thyroid Function Genetic Predictors With Atrial Fibrillation: A Phenome-Wide Association Study and Inverse-Variance Weighted Average Meta-analysis. | Salem JE et al. | β | 2019 | β |
| Associations of obesity and circulating insulin and glucose with breast cancer risk: a Mendelian randomization analysis. | Shu X et al. | β | 2019 | β |
| Association studies of up to 1.2 million individuals yield new insights into the genetic etiology of tobacco and alcohol use. | Liu M et al. | β | 2019 | β |
| A statistical method for joint estimation of cis-eQTLs and parent-of-origin effects under family trio design. | Zhabotynsky V et al. | β | 2019 | β |
| Cognitive resilience among APOE Ξ΅4 carriers in the oldest old. | Hayden KM 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 |
| Comparative genetic architectures of schizophrenia in East Asian and European populations. | Lam M 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 |
| Comprehensive Multiple eQTL Detection and Its Application to GWAS Interpretation. | Zeng B et al. | β | 2019 | β |
| Cross-species alcohol dependence-associated gene networks: Co-analysis of mouse brain gene expression and human genome-wide association data. | Mignogna KM et al. | β | 2019 | β |
| Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis. | Argemi J et al. | β | 2019 | β |
| Detecting genetic modifiers of spondyloepimetaphyseal dysplasia with joint laxity in the Caucasian Afrikaner community. | Chimusa ER et al. | β | 2019 | β |
| Differential associations of allergic disease genetic variants with developmental profiles of eczema, wheeze and rhinitis. | Clark H et al. | β | 2019 | β |
| Differential SLC6A4 methylation: a predictive epigenetic marker of adiposity from birth to adulthood. | Lillycrop KA et al. | β | 2019 | β |
| Early complement genes are associated with visual system degeneration in multiple sclerosis. | Fitzgerald KC et al. | β | 2019 | β |
| Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians. | Luo Y et al. | β | 2019 | β |
| Effect of gestational oily fish intake on the risk of allergy in children may be influenced by <i>FADS1/2</i>, <i>ELOVL5</i> expression and DNA methylation. | Losol P et al. | β | 2019 | β |
| Effect of HLA-DRB1 alleles and genetic variants on the development of neutralizing antibodies to interferon beta in the BEYOND and BENEFIT trials. | Buck D 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 |
| Evidence that 6q25.1 variant rs6931104 confers susceptibility to chronic myeloid leukemia through RMND1 regulation. | Woo YM et al. | β | 2019 | β |
| Exploring Shared Susceptibility between Two Neural Crest Cells Originating Conditions: Neuroblastoma and Congenital Heart Disease. | Testori A et al. | β | 2019 | β |
| Gene-based genome-wide association studies and meta-analyses of conotruncal heart defects. | Sewda A et al. | β | 2019 | β |
| Genetic and Epigenetic Fine Mapping of Complex Trait Associated Loci in the Human Liver. | ΓalΔ±Εkan M et al. | β | 2019 | β |
| Genetic architecture of human plasma lipidome and its link to cardiovascular disease. | Tabassum R et al. | β | 2019 | β |
| Genetic association and differential expression of PITX2 with acute appendicitis. | Orlova E et al. | β | 2019 | β |
| Genetic components of human pain sensitivity: a protocol for a genome-wide association study of experimental pain in healthy volunteers. | Schmid AB 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 risk for coronary heart disease alters the influence of Alzheimer's genetic risk on mild cognitive impairment. | Elman JA et al. | β | 2019 | β |
| Genetic variant predictors of gene expression provide new insight into risk of colorectal cancer. | Bien SA et al. | β | 2019 | β |
| Genetic Variants in the 9p21.3 Locus Associated with Glioma Risk in Children, Adolescents, and Young Adults: A Case-Control Study. | Dahlin AM et al. | β | 2019 | β |
| Genetic variants linked to myopic macular degeneration in persons with high myopia: CREAM Consortium. | Wong YL et al. | β | 2019 | β |
| Genome Wide Analysis Approach Suggests Chromosome 2 Locus to be Associated with Thiazide and Thiazide Like-Diuretics Blood Pressure Response. | Singh S et al. | β | 2019 | β |
| Genome-wide associated study identifies NAC42-activated nitrate transporter conferring high nitrogen use efficiency in rice. | Tang W et al. | β | 2019 | β |
| Genome-wide association analysis of hippocampal volume identifies enrichment of neurogenesis-related pathways. | Horgusluoglu-Moloch E et al. | β | 2019 | β |
| Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease. | Klarin D et al. | β | 2019 | β |
| Genome-wide association analysis suggests novel loci underlying thyroid antibodies in Hashimoto's thyroiditis. | BrΔiΔ L et al. | β | 2019 | β |
| Genome-wide Association Studies in Ancestrally Diverse Populations: Opportunities, Methods, Pitfalls, and Recommendations. | Peterson RE 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 Diabetic Kidney Disease Highlights Biology Involved in Glomerular Basement Membrane Collagen. | Salem RM et al. | β | 2019 | β |
| Genome-wide association study of eosinophilic granulomatosis with polyangiitis reveals genomic loci stratified by ANCA status. | Lyons PA et al. | β | 2019 | β |
| Genome-Wide Association Study of Meat Quality Traits in Hanwoo Beef Cattle Using Imputed Whole-Genome Sequence Data. | Bedhane M et al. | β | 2019 | β |
| Genome-wide association study of peripheral artery disease in the Million Veteran Program. | Klarin D et al. | β | 2019 | β |
| Genomewide Association Study of Statin-Induced Myopathy in Patients Recruited Using the UK Clinical Practice Research Datalink. | Carr DF et al. | β | 2019 | β |
| Genome-wide identification of circulating-miRNA expression quantitative trait loci reveals the role of several miRNAs in the regulation of cardiometabolic phenotypes. | Nikpay M et al. | β | 2019 | β |
| Genome-wide meta-analysis identifies novel gender specific loci associated with thyroid antibodies level in Croatians. | Matana A et al. | β | 2019 | β |
| Genome-wide meta-analysis of macronutrient intake of 91,114 European ancestry participants from the cohorts for heart and aging research in genomic epidemiology consortium. | Merino J et al. | β | 2019 | β |
| Genome-wide survey of copy number variants finds MAPT duplications in progressive supranuclear palsy. | Chen Z et al. | β | 2019 | β |
| Genomic analyses in African populations identify novel risk loci for cleft palate. | Butali A et al. | β | 2019 | β |
| Genomic analysis of perinatal sucking reflex in German Brown Swiss calves. | Dreher C et al. | β | 2019 | β |
| Genomics of posttraumatic stress disorder in veterans: Methods and rationale for Veterans Affairs Cooperative Study #575B. | Radhakrishnan K et al. | β | 2019 | β |
| Genotype Imputation in Genome-Wide Association Studies. | Naj AC | β | 2019 | β |
| GWAS Identifies 44 Independent Associated Genomic Loci for Self-Reported Adult Hearing Difficulty in UK Biobank. | Wells HRR et al. | β | 2019 | β |
| GWAS on Imputed Whole-Genome Resequencing From Genotyping-by-Sequencing Data for Farrowing Interval of Different Parities in Pigs. | Wu P et al. | β | 2019 | β |
| Heritability of human visual contour integration-an integrated genomic study. | Zhu Z et al. | β | 2019 | β |
| HMGCLL1 is a predictive biomarker for deep molecular response to imatinib therapy in chronic myeloid leukemia. | Park JH 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 common genetic risk variants for autism spectrum disorder. | Grove J et al. | β | 2019 | β |
| Identification of Functional Variants in the FAM13A Chronic Obstructive Pulmonary Disease Genome-Wide Association Study Locus by Massively Parallel Reporter Assays. | Castaldi PJ et al. | β | 2019 | β |
| Identification of two novel breast cancer loci through large-scale genome-wide association study in the Japanese population. | Low SK et al. | β | 2019 | β |
| Identifying Putative Susceptibility Genes and Evaluating Their Associations with Somatic Mutations in Human Cancers. | Chen Z et al. | β | 2019 | β |
| Improving Imputation Accuracy by Inferring Causal Variants in Genetic Studies. | Wu Y et al. | β | 2019 | β |
| Imputation of canine genotype array data using 365 whole-genome sequences improves power of genome-wide association studies. | Hayward JJ et al. | β | 2019 | β |
| Imputation to whole-genome sequence using multiple pig populations and its use in genome-wide association studies. | van den Berg S et al. | β | 2019 | β |
| Imputed gene associations identify replicable trans-acting genes enriched in transcription pathways and complex traits. | Wheeler HE 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 analysis of loss-of-function variants in clinical and genomic data reveals novel genes associated with cardiovascular traits. | Glicksberg BS et al. | β | 2019 | β |
| Integrative genomic analysis predicts novel functional enhancer-SNPs for bone mineral density. | Qiu C et al. | β | 2019 | β |
| Interferon inducible X-linked gene CXorf21 may contribute to sexual dimorphism in Systemic Lupus Erythematosus. | Odhams CA et al. | β | 2019 | β |
| Interval breast cancer is associated with other types of tumors. | Grassmann F et al. | β | 2019 | β |
| Kinpute: using identity by descent to improve genotype imputation. | Abney M 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 |
| miRNA contributions to pediatric-onset multiple sclerosis inferred from GWAS. | Rhead B et al. | β | 2019 | β |
| Mucosal Profiling of Pediatric-Onset Colitis and IBD Reveals Common Pathogenics and Therapeutic Pathways. | Huang B et al. | β | 2019 | β |
| Non-Syndromic Cleft Lip with or without Cleft Palate: Genome-Wide Association Study in Europeans Identifies a Suggestive Risk Locus at 16p12.1 and Supports <i>SH3PXD2A</i> as a Clefting Susceptibility Gene. | van Rooij IA et al. | β | 2019 | β |
| NRXN1 is associated with enlargement of the temporal horns of the lateral ventricles in psychosis. | Alliey-Rodriguez N et al. | β | 2019 | β |
| Polygenic risk associated with post-traumatic stress disorder onset and severity. | Misganaw B et al. | β | 2019 | β |
| Polygenic risk for psychiatric disorders correlates with executive function in typical development. | Schork AJ et al. | β | 2019 | β |
| Polygenic risk for schizophrenia and associated brain structural changes: A systematic review. | van der Merwe C et al. | β | 2019 | β |
| Polygenic risk for schizophrenia and season of birth within the UK Biobank cohort. | Escott-Price V et al. | β | 2019 | β |
| Polygenic risk score as a determinant of risk of non-melanoma skin cancer in a European-descent renal transplant cohort. | Stapleton CP et al. | β | 2019 | β |
| Polygenic Susceptibility of Aortic Aneurysms Associates to the Diameter of the Aneurysm Sac: the Aneurysm-Express Biobank Cohort. | van Laarhoven CJHCM et al. | β | 2019 | β |
| PopCluster: an algorithm to identify genetic variants with ethnicity-dependent effects. | Gurinovich A et al. | β | 2019 | β |
| Post-traumatic stress following military deployment: Genetic associations and cross-disorder genetic correlations. | Wang Y et al. | β | 2019 | β |
| Profiling allele-specific gene expression in brains from individuals with autism spectrum disorder reveals preferential minor allele usage. | Lee C et al. | β | 2019 | β |
| Protocols, Methods, and Tools for Genome-Wide Association Studies (GWAS) of Dental Traits. | Agler CS et al. | β | 2019 | β |
| pSBVB: A Versatile Simulation Tool To Evaluate Genomic Selection in Polyploid Species. | Zingaretti ML et al. | β | 2019 | β |
| Pupillary dilation responses as a midlife indicator of risk for Alzheimer's disease: association with Alzheimer's disease polygenic risk. | Kremen WS et al. | β | 2019 | β |
| Quick assessment for systematic test statistic inflation/deflation due to null model misspecifications in genome-wide environment interaction studies. | Ueki M et al. | β | 2019 | β |
| Rare Variants Imputation in Admixed Populations: Comparison Across Reference Panels and Bioinformatics Tools. | Sariya S et al. | β | 2019 | β |
| Revisit Population-based and Family-based Genotype Imputation. | Liu CT et al. | β | 2019 | β |
| Role of monoamine-oxidase-A-gene variation in the development of glioblastoma in males: a case control study. | SjΓΆberg RL et al. | β | 2019 | β |
| Selecting Closely-Linked SNPs Based on Local Epistatic Effects for Haplotype Construction Improves Power of Association Mapping. | Liu F et al. | β | 2019 | β |
| Sequence-based GWAS, network and pathway analyses reveal genes co-associated with milk cheese-making properties and milk composition in MontbΓ©liarde cows. | Sanchez MP et al. | β | 2019 | β |
| Sparse Convolutional Denoising Autoencoders for Genotype Imputation. | Chen J et al. | β | 2019 | β |
| Statistical methods for genome-wide association studies. | Wang MH et al. | β | 2019 | β |
| Statistical methods for testing X chromosome variant associations: application to sex-specific characteristics of bipolar disorder. | Jons WA et al. | β | 2019 | β |
| The Genetic Architecture of Chronic Mountain Sickness in Peru. | Gazal S et al. | β | 2019 | β |
| The <i>MS4A</i> gene cluster is a key modulator of soluble TREM2 and Alzheimer's disease risk. | Deming Y et al. | β | 2019 | β |
| The metabolic network coherence of human transcriptomes is associated with genetic variation at the cadherin 18 locus. | Schlicht K et al. | β | 2019 | β |
| The protective variant rs7173049 at LOXL1 locus impacts on retinoic acid signaling pathway in pseudoexfoliation syndrome. | Berner D et al. | β | 2019 | β |
| The Relationship Between Common Variant Schizophrenia Liability and Number of Offspring in the UK Biobank. | Escott-Price V et al. | β | 2019 | β |
| Tissue-specific microRNA expression alters cancer susceptibility conferred by a TP53 noncoding variant. | Deng Q 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 |
| Uganda Genome Resource Enables Insights into Population History and Genomic Discovery in Africa. | Gurdasani D et al. | β | 2019 | β |
| Use of an Alzheimer's disease polygenic risk score to identify mild cognitive impairment in adults in their 50s. | Logue MW et al. | β | 2019 | β |
| Varying Effects of APOE Alleles on Extreme Longevity in European Ethnicities. | Gurinovich A et al. | β | 2019 | β |
| Ξ²<sub>2</sub> -Adrenergic Receptor Gene Affects the Heart Rate Response of Ξ²-Blockers: Evidence From 3 Clinical Studies. | Shahin MH et al. | β | 2019 | β |
| A case-control genome-wide association study of ADHD discovers a novel association with the tenascin R (TNR) gene. | Hawi Z et al. | β | 2018 | β |
| A Common Type 2 Diabetes Risk Variant Potentiates Activity of an Evolutionarily Conserved Islet Stretch Enhancer and Increases C2CD4A and C2CD4B Expression. | Kycia I et al. | β | 2018 | β |
| A Comprehensive Analysis of Nuclear-Encoded Mitochondrial Genes in Schizophrenia. | GonΓ§alves VF et al. | β | 2018 | β |
| A Comprehensive cis-eQTL Analysis Revealed Target Genes in Breast Cancer Susceptibility Loci Identified in Genome-wide Association Studies. | Guo X et al. | β | 2018 | β |
| A data-driven investigation of relationships between bipolar psychotic symptoms and schizophrenia genome-wide significant genetic loci. | Leonenko G et al. | β | 2018 | β |
| A direct test of the diathesis-stress model for depression. | Colodro-Conde L et al. | β | 2018 | β |
| African genetic diversity provides novel insights into evolutionary history and local adaptations. | Choudhury A et al. | β | 2018 | β |
| A functional splice variant associated with decreased asthma risk abolishes the ability of gasdermin B to induce epithelial cell pyroptosis. | Panganiban RA et al. | β | 2018 | β |
| A Genome-Wide Association Study of Diabetic Kidney Disease in Subjects With Type 2 Diabetes. | van Zuydam NR et al. | β | 2018 | β |
| A large electronic-health-record-based genome-wide study of serum lipids. | Hoffmann TJ et al. | β | 2018 | β |
| A Large Multiethnic Genome-Wide Association Study of Adult Body Mass Index Identifies Novel Loci. | Hoffmann TJ et al. | β | 2018 | β |
| A molecule-based genetic association approach implicates a range of voltage-gated calcium channels associated with schizophrenia. | Li W et al. | β | 2018 | β |
| A multiethnic genome-wide association study of primary open-angle glaucoma identifies novel risk loci. | Choquet H 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 |
| An Atlas of Genetic Variation Linking Pathogen-Induced Cellular Traits to Human Disease. | Wang L et al. | β | 2018 | β |
| Antidepressant drug-specific prediction of depression treatment outcomes from genetic and clinical variables. | Iniesta R et al. | β | 2018 | β |
| A One-Penny Imputed Genome from Next-Generation Reference Panels. | Browning BL et al. | β | 2018 | β |
| Assessment of moderate coffee consumption and risk of epithelial ovarian cancer: a Mendelian randomization study. | Ong JS et al. | β | 2018 | β |
| Association Between Schizophrenia-Related Polygenic Liability and the Occurrence and Level of Mood-Incongruent Psychotic Symptoms in Bipolar Disorder. | Allardyce J et al. | β | 2018 | β |
| Association of schizophrenia polygenic risk score with manic and depressive psychosis in bipolar disorder. | Markota M et al. | β | 2018 | β |
| A study of Kibbutzim in Israel reveals risk factors for cardiometabolic traits and subtle population structure. | Granot-Hershkovitz E et al. | β | 2018 | β |
| A study paradigm integrating prospective epidemiologic cohorts and electronic health records to identify disease biomarkers. | Mosley JD 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 |
| Bayesian analysis of genome-wide inflammatory bowel disease data sets reveals new risk loci. | Zhang Y et al. | β | 2018 | β |
| BDNF genotype is associated with hippocampal volume in mild traumatic brain injury. | Hayes JP et al. | β | 2018 | β |
| Bipolar disorder with binge eating behavior: a genome-wide association study implicates PRR5-ARHGAP8. | McElroy SL et al. | β | 2018 | β |
| Breastfeeding moderates FTO related adiposity: a birth cohort study with 30 years of follow-up. | Horta BL et al. | β | 2018 | β |
| Cancer expression quantitative trait loci (eQTLs) can be determined from heterogeneous tumor gene expression data by modeling variation in tumor purity. | Geeleher P et al. | β | 2018 | β |
| Case-control meta-analysis of blood DNA methylation and autism spectrum disorder. | Andrews SV et al. | β | 2018 | β |
| Characterization of cross-tissue genetic-epigenetic effects and their patterns in schizophrenia. | Lin D et al. | β | 2018 | β |
| Childhood asthma is associated with COPD and known asthma variants in COPDGene: a genome-wide association study. | Hayden LP et al. | β | 2018 | β |
| Clinical and Genetic Risk Factors for Adverse Metabolic Outcomes in North American Testicular Cancer Survivors. | Zaid MA et al. | β | 2018 | β |
| Combination therapy as a potential risk factor for the development of type 2 diabetes in patients with schizophrenia: the GOMAP study. | Mamakou V et al. | β | 2018 | β |
| Common genetic variation and novel loci associated with volumetric mammographic density. | Brand JS et al. | β | 2018 | β |
| Common Variant Burden Contributes to the Familial Aggregation of Migraine in 1,589 Families. | Gormley P et al. | β | 2018 | β |
| De novo mutations implicate novel genes in systemic lupus erythematosus. | Pullabhatla V et al. | β | 2018 | β |
| Detection of Significant Association Between Variants in Cannabinoid Receptor 1 Gene (<i>CNR1</i>) and Personality in African-American Population. | Yao Y et al. | β | 2018 | β |
| Disentangling the biological pathways involved in early features of Alzheimer's disease in the Rotterdam Study. | Ahmad S 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 |
| Enhancer histone-QTLs are enriched on autoimmune risk haplotypes and influence gene expression within chromatin networks. | Pelikan RC et al. | β | 2018 | β |
| Epigenome-wide association study of metabolic syndrome in African-American adults. | Akinyemiju T et al. | β | 2018 | β |
| Evaluation of a genetic risk score based on creatinine-estimated glomerular filtration rate and its association with kidney outcomes. | Thio CHL et al. | β | 2018 | β |
| Examining the role of common and rare mitochondrial variants in schizophrenia. | GonΓ§alves VF et al. | β | 2018 | β |
| Excess Synaptojanin 1 Contributes to Place Cell Dysfunction and Memory Deficits in the Aging Hippocampus in Three Types of Alzheimer's Disease. | Miranda AM et al. | β | 2018 | β |
| Exploiting next-generation sequencing to solve the haplotyping puzzle in polyploids: a simulation study. | Motazedi E et al. | β | 2018 | β |
| Fast score test with global null estimation regardless of missing genotypes. | Sato S et al. | β | 2018 | β |
| Fine mapping of 2q35 high-risk neuroblastoma locus reveals independent functional risk variants and suggests full-length BARD1 as tumor-suppressor. | Cimmino F et al. | β | 2018 | β |
| Gene-by-environment interactions in urban populations modulate risk phenotypes. | FavΓ© MJ et al. | β | 2018 | β |
| Genetic analysis of deep phenotyping projects in common disorders. | Gershon ES et al. | β | 2018 | β |
| Genetic fine mapping of systemic lupus erythematosus MHC associations in Europeans and African Americans. | Hanscombe KB et al. | β | 2018 | β |
| Genetic Reduction in Left Ventricular Protein Kinase C-Ξ± and Adverse Ventricular Remodeling in Human Subjects. | Hu R et al. | β | 2018 | β |
| Genetic risk for schizophrenia and autism, social impairment and developmental pathways to psychosis. | Velthorst E et al. | β | 2018 | β |
| Genetics of blood lipids among ~300,000 multi-ethnic participants of the Million Veteran Program. | Klarin D et al. | β | 2018 | β |
| Genetics of serum urate concentrations and gout in a high-risk population, patients with chronic kidney disease. | Jing J et al. | β | 2018 | β |
| Genetic variants in pachyonychia congenita-associated keratins increase susceptibility to tooth decay. | Duverger O et al. | β | 2018 | β |
| Genetic variation in P2RX7 and pain tolerance. | Kambur O et al. | β | 2018 | β |
| Genetic variation in the <i>SIM1</i> locus is associated with erectile dysfunction. | Jorgenson E et al. | β | 2018 | β |
| Genome-wide analysis yields new loci associating with aortic valve stenosis. | Helgadottir A et al. | β | 2018 | β |
| Genome-Wide Association Approach Identified Novel Genetic Predictors of Heart Rate Response to Ξ²-Blockers. | Shahin MH et al. | β | 2018 | β |
| Genome-wide association meta-analysis highlights light-induced signaling as a driver for refractive error. | Tedja MS et al. | β | 2018 | β |
| Genome-wide association study (GWAS) of ovarian cancer in Japanese predicted regulatory variants in 22q13.1. | Yodsurang V et al. | β | 2018 | β |
| Genome-wide association study identifies gastric cancer susceptibility loci at 12q24.11-12 and 20q11.21. | Tanikawa C 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 identifies two risk loci for tuberculosis in Han Chinese. | Zheng R et al. | β | 2018 | β |
| Genome-wide association study in 176,678 Europeans reveals genetic loci for tanning response to sun exposure. | Visconti A et al. | β | 2018 | β |
| Genome-wide association study of 23,500 individuals identifies 7 loci associated with brain ventricular volume. | Vojinovic D et al. | β | 2018 | β |
| Genome-wide association study of familial lung cancer. | Byun J et al. | β | 2018 | β |
| Genome-Wide Association Study of Heavy Smoking and Daily/Nondaily Smoking in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). | Saccone NL et al. | β | 2018 | β |
| Genome-Wide Association Study Reveals Genetic Link between Diarrhea-Associated Entamoeba histolytica Infection and Inflammatory Bowel Disease. | Wojcik GL et al. | β | 2018 | β |
| Genome-wide meta-analyses identifies novel taxane-induced peripheral neuropathy-associated loci. | Sucheston-Campbell LE et al. | β | 2018 | β |
| Genome-wide meta-analysis of cognitive empathy: heritability, and correlates with sex, neuropsychiatric conditions and cognition. | Warrier V et al. | β | 2018 | β |
| Genome-wide variants of Eurasian facial shape differentiation and a prospective model of DNA based face prediction. | Qiao L et al. | β | 2018 | β |
| Genomic Analyses of Visual Cognition: Perceptual Rivalry and Top-Down Control. | Chen B et al. | β | 2018 | β |
| Genotype effects contribute to variation in longitudinal methylome patterns in older people. | Zhang Q et al. | β | 2018 | β |
| Genotype effects of glucokinase regulator on lipid profiles and glycemic status are modified by circulating calcium levels: results from the Korean Genome and Epidemiology Study. | Kim OY 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 |
| GWAS and colocalization analyses implicate carotid intima-media thickness and carotid plaque loci in cardiovascular outcomes. | Franceschini N et al. | β | 2018 | β |
| GWAS identifies two novel colorectal cancer loci at 16q24.1 and 20q13.12. | Tanikawa C 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 |
| Heritability and genome-wide associations studies of cerebral blood flow in the general population. | Ikram MA et al. | β | 2018 | β |
| High-throughput screening of prostate cancer risk loci by single nucleotide polymorphisms sequencing. | Zhang P et al. | β | 2018 | β |
| Identification of 55,000 Replicated DNA Methylation QTL. | McRae AF et al. | β | 2018 | β |
| Identification of <i>ST3AGL4</i>, <i>MFHAS1, CSNK2A2</i> and <i>CD226</i> as loci associated with systemic lupus erythematosus (SLE) and evaluation of SLE genetics in drug repositioning. | Wang YF et al. | β | 2018 | β |
| Identification of nine new susceptibility loci for endometrial cancer. | O'Mara TA et al. | β | 2018 | β |
| Imputation-Aware Tag SNP Selection To Improve Power for Large-Scale, Multi-ethnic Association Studies. | Wojcik GL et al. | β | 2018 | β |
| Imputation from SNP chip to sequence: a case study in a Chinese indigenous chicken population. | Ye S et al. | β | 2018 | β |
| Individual and shared effects of social environment and polygenic risk scores on adolescent body mass index. | Coleman JRI et al. | β | 2018 | β |
| Lack of Association Between Shape and Volume of Subcortical Brain Structures and Restless Legs Syndrome. | Hermesdorf M et al. | β | 2018 | β |
| Landscape of Conditional eQTL in Dorsolateral Prefrontal Cortex and Co-localization with Schizophrenia GWAS. | Dobbyn A et al. | β | 2018 | β |
| LPA Variants Are Associated With Residual Cardiovascular Risk in Patients Receiving Statins. | Wei WQ et al. | β | 2018 | β |
| Meta-Analysis of Common and Rare Variants. | Michailidou K | 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 |
| Multi-level genomic analyses suggest new genetic variants involved in human memory. | Zhu Z et al. | β | 2018 | β |
| Multitrait genome association analysis identifies new susceptibility genes for human anthropometric variation in the GCAT cohort. | GalvΓ‘n-FemenΓa I et al. | β | 2018 | β |
| Nature vs. nurture in human sociality: multi-level genomic analyses of social conformity. | Chen B 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 |
| Next-generation sequencing characterization of HLA in multi-generation families of Kuwaiti descent. | Ameen R et al. | β | 2018 | β |
| Novel association between CDKAL1 and cholesterol efflux capacity: Replication after GWAS-based discovery. | Cheon EJ et al. | β | 2018 | β |
| One for all and all for One: Improving replication of genetic studies through network diffusion. | Lancour D et al. | β | 2018 | β |
| Pathway-Based Analysis of Genome-Wide Association Data Identified SNPs in <i>HMMR</i> as Biomarker for Chemotherapy- Induced Neutropenia in Breast Cancer Patients. | Bidadi B et al. | β | 2018 | β |
| Pathway-Wide Genetic Risks in Chlamydial Infections Overlap between Tissue Tropisms: A Genome-Wide Association Scan. | Roberts CH et al. | β | 2018 | β |
| Pedigree Selection and Information Content. | Vardarajan BN et al. | β | 2018 | β |
| Polygenic Contribution in Individuals With Early-Onset Coronary Artery Disease. | ThΓ©riault S et al. | β | 2018 | β |
| Polygenic risk for schizophrenia and measured domains of cognition in individuals with psychosis and controls. | Shafee R et al. | β | 2018 | β |
| Polygenic risk score of sporadic late-onset Alzheimer's disease reveals a shared architecture with the familial and early-onset forms. | Cruchaga C et al. | β | 2018 | β |
| Polygenic signal for symptom dimensions and cognitive performance in patients with chronic schizophrenia. | Xavier RM et al. | β | 2018 | β |
| Prediction of Schizophrenia Diagnosis by Integration of Genetically Correlated Conditions and Traits. | Chen J et al. | β | 2018 | β |
| Prioritizing diversity in human genomics research. | Hindorff LA et al. | β | 2018 | β |
| Probing the Virtual Proteome to Identify Novel Disease Biomarkers. | Mosley JD et al. | β | 2018 | β |
| Refining the accuracy of validated target identification through coding variant fine-mapping in type 2 diabetes. | Mahajan A et al. | β | 2018 | β |
| Risk of nontyphoidal Salmonella bacteraemia in African children is modified by STAT4. | Gilchrist JJ et al. | β | 2018 | β |
| Sequence Analysis of Drug Target Genes with Suicidal Behavior in Bipolar Disorder Patients. | Zai CC et al. | β | 2018 | β |
| Smoking induces coordinated DNA methylation and gene expression changes in adipose tissue with consequences for metabolic health. | Tsai PC et al. | β | 2018 | β |
| Splicing variant of <i>WDFY4</i> augments MDA5 signalling and the risk of clinically amyopathic dermatomyositis. | Kochi Y et al. | β | 2018 | β |
| Strategies for phasing and imputation in a population isolate. | Herzig AF et al. | β | 2018 | β |
| Systemic and specific effects of antihypertensive and lipid-lowering medication on plasma protein biomarkers for cardiovascular diseases. | Enroth S et al. | β | 2018 | β |
| The feasibility of using low-density marker panels for genotype imputation and genomic prediction of crossbred dairy cattle of East Africa. | Aliloo H et al. | β | 2018 | β |
| The germline genetic component of drug sensitivity in cancer cell lines. | Menden MP et al. | β | 2018 | β |
| The importance of cohort studies in the post-GWAS era. | Wijmenga C et al. | β | 2018 | β |
| The Mega2R package: R tools for accessing and processing genetic data in common formats. | Baron RV et al. | β | 2018 | β |
| The UK Biobank resource with deep phenotyping and genomic data. | Bycroft C et al. | β | 2018 | β |
| Trajectories of Relative Performance with 2 Measures of Global Cognitive Function. | Espeland MA 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 |
| Translating GWAS in rheumatic disease: approaches to establishing mechanism and function for genetic associations with ankylosing spondylitis. | Osgood JA et al. | β | 2018 | β |
| Validation of loci at 2q14.2 and 15q21.3 as risk factors for testicular cancer. | Loveday C et al. | β | 2018 | β |
| Weighted Multi-marker Genetic Risk Scores for Incident Coronary Heart Disease among Individuals of African, Latino and East-Asian Ancestry. | Iribarren C et al. | β | 2018 | β |
| Whole Exome Sequencing of Patients from Multicase Families with Systemic Lupus Erythematosus Identifies Multiple Rare Variants. | Delgado-Vega AM et al. | β | 2018 | β |
| Whole-genome sequencing reveals new insights into age-related hearing loss: cumulative effects, pleiotropy and the role of selection. | Vuckovic D 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 comprehensive analysis of mitochondrial genes variants and their association with antipsychotic-induced weight gain. | Mittal K 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 functional IFN-Ξ»4-generating DNA polymorphism could protect older asthmatic women from aeroallergen sensitization and associate with clinical features of asthma. | Chinnaswamy S et al. | β | 2017 | β |
| A genome wide association study identifies a lncRna as risk factor for pathological inflammatory responses in leprosy. | Fava VM et al. | β | 2017 | β |
| A genome-wide association study links small-vessel ischemic stroke to autophagy. | Lee TH et al. | β | 2017 | β |
| A genome wide association study suggests the association of muskelin with early onset bipolar disorder: Implications for a GABAergic epileptogenic neurogenesis model. | Nassan M et al. | β | 2017 | β |
| A genome-wide linkage and association analysis of imputed insertions and deletions with cardiometabolic phenotypes in Mexican Americans: The Insulin Resistance Atherosclerosis Family Study. | Gao C 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 large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. | Choquet H et al. | β | 2017 | β |
| A meta-analysis of genome-wide association studies identifies 17 new Parkinson's disease risk loci. | Chang D et al. | β | 2017 | β |
| An eQTL variant of ZXDC is associated with IFN-Ξ³ production following Mycobacterium tuberculosis antigen-specific stimulation. | Jabot-Hanin F et al. | β | 2017 | β |
| An Expanded Genome-Wide Association Study of Type 2 Diabetes in Europeans. | Scott RA et al. | β | 2017 | β |
| Association analysis identifies 65 new breast cancer risk loci. | Michailidou K et al. | β | 2017 | β |
| Association Between Substance Use Disorder and Polygenic Liability to Schizophrenia. | Hartz SM 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 |
| Associations of the Serum/Glucocorticoid Regulated Kinase Genes With BP Changes and Hypertension Incidence: The Gensalt Study. | Zhang D et al. | β | 2017 | β |
| A strategy to improve phasing of whole-genome sequenced individuals through integration of familial information from dense genotype panels. | Faux P et al. | β | 2017 | β |
| A UNIFIED FRAMEWORK FOR VARIANCE COMPONENT ESTIMATION WITH SUMMARY STATISTICS IN GENOME-WIDE ASSOCIATION STUDIES. | Zhou X | β | 2017 | β |
| Blood Pressure Genetic Risk Score Predicts Blood Pressure Responses to Dietary Sodium and Potassium: The GenSalt Study (Genetic Epidemiology Network of Salt Sensitivity). | Nierenberg JL et al. | β | 2017 | β |
| Causes of blood methylomic variation for middle-aged women measured by the HumanMethylation450 array. | Li S et al. | β | 2017 | β |
| Characterization of ADME gene variation in 21 populations by exome sequencing. | Hovelson DH et al. | β | 2017 | β |
| Childhood behaviour problems show the greatest gap between DNA-based and twin heritability. | Cheesman R et al. | β | 2017 | β |
| Chronic Periodontitis Genome-wide Association Study in the Hispanic Community Health Study / Study of Latinos. | Sanders AE et al. | β | 2017 | β |
| Circulating vitamin D concentration and risk of seven cancers: Mendelian randomisation study. | Dimitrakopoulou VI et al. | β | 2017 | β |
| Clinical and Genome-Wide Analysis of Cisplatin-Induced Peripheral Neuropathy in Survivors of Adult-Onset Cancer. | Dolan ME et al. | β | 2017 | β |
| Colonic transcriptional response to 1Ξ±,25(OH)<sub>2</sub> vitamin D<sub>3</sub> in African- and European-Americans. | Alleyne D et al. | β | 2017 | β |
| Constraints on eQTL Fine Mapping in the Presence of Multisite Local Regulation of Gene Expression. | Zeng B et al. | β | 2017 | β |
| Contributions of polygenic risk for obesity to PTSD-related metabolic syndrome and cortical thickness. | Wolf EJ et al. | β | 2017 | β |
| Cross-tissue integration of genetic and epigenetic data offers insight into autism spectrum disorder. | Andrews SV et al. | β | 2017 | β |
| CSF protein changes associated with hippocampal sclerosis risk gene variants highlight impact of GRN/PGRN. | Fardo DW et al. | β | 2017 | β |
| Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits. | Yao C et al. | β | 2017 | β |
| Effect of Human Genetic Variability on Gene Expression in Dorsal Root Ganglia and Association with Pain Phenotypes. | Parisien M 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 |
| Evaluating genetic variants associated with breast cancer risk in high and moderate-penetrance genes in Asians. | Han MR et al. | β | 2017 | β |
| Evaluation of the accuracy of imputed sequence variant genotypes and their utility for causal variant detection in cattle. | Pausch H et al. | β | 2017 | β |
| Evidence for genetic heterogeneity between clinical subtypes of bipolar disorder. | Charney AW 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 and genomic analysis of hyperthelia in Brown Swiss cattle. | Butty AM et al. | β | 2017 | β |
| Genetic architecture of epigenetic and neuronal ageing rates in human brain regions. | Lu AT et al. | β | 2017 | β |
| Genetic contributors to variation in alcohol consumption vary by race/ethnicity in a large multi-ethnic genome-wide association study. | Jorgenson E et al. | β | 2017 | β |
| Genetic epistasis regulates amyloid deposition in resilient aging. | Felsky D et al. | β | 2017 | β |
| Genetic History of Xinjiang's Uyghurs Suggests Bronze Age Multiple-Way Contacts in Eurasia. | Feng Q et al. | β | 2017 | β |
| Genetic polymorphisms associated with pancreatic cancer survival: a genome-wide association study. | Tang H et al. | β | 2017 | β |
| Genetic regulatory signatures underlying islet gene expression and type 2 diabetes. | Varshney A et al. | β | 2017 | β |
| Genetic signatures of high-altitude adaptation in Tibetans. | Yang J et al. | β | 2017 | β |
| Genetic susceptibility to multiple sclerosis: Brain structure and cognitive function in the general population. | Ikram MA et al. | β | 2017 | β |
| Genetic variants affecting cross-sectional lung function in adults show little or no effect on longitudinal lung function decline. | John C 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 receptor for advanced glycation end products (RAGE) gene were associated with circulating soluble RAGE level but not with renal function among Asians with type 2 diabetes: a genome-wide association study. | Lim SC et al. | β | 2017 | β |
| Genetic variation at 16q24.2 is associated with small vessel stroke. | Traylor M et al. | β | 2017 | β |
| Genetic variation in the gene <i>LRP2</i> increases relapse risk in multiple sclerosis. | Zhou Y et al. | β | 2017 | β |
| Gene-wide Association Study Reveals RNF122 Ubiquitin Ligase as a Novel Susceptibility Gene for Attention Deficit Hyperactivity Disorder. | Garcia-MartΓnez I 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 analyses for personality traits identify six genomic loci and show correlations with psychiatric disorders. | Lo MT et al. | β | 2017 | β |
| Genome-wide analyses identify common variants associated with macular telangiectasia type 2. | Scerri TS et al. | β | 2017 | β |
| Genome-wide approach identifies a novel gene-maternal pre-pregnancy BMI interaction on preterm birth. | Hong X et al. | β | 2017 | β |
| Genome-wide association analyses using electronic health records identify new loci influencing blood pressure variation. | Hoffmann TJ 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 Multiple Keratinocyte Cancers. | Pardo LM et al. | β | 2017 | β |
| Genome-wide association studies of smooth pursuit and antisaccade eye movements in psychotic disorders: findings from the B-SNIP study. | Lencer R et al. | β | 2017 | β |
| Genome-wide association study identifies four novel loci associated with Alzheimer's endophenotypes and disease modifiers. | Deming Y et al. | β | 2017 | β |
| Genome-wide association study identifies multiple risk loci for renal cell carcinoma. | Scelo G et al. | β | 2017 | β |
| Genome-wide association study of 1,5-anhydroglucitol identifies novel genetic loci linked to glucose metabolism. | Li M et al. | β | 2017 | β |
| Genome-wide association study of coronary artery calcified atherosclerotic plaque in African Americans with type 2 diabetes. | Divers J 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 Idiopathic Osteonecrosis of the Femoral Head. | Sakamoto Y et al. | β | 2017 | β |
| Genome-wide association study of paliperidone efficacy. | Li Q et al. | β | 2017 | β |
| Genome-wide association study of Parkinson's disease in East Asians. | Foo JN et al. | β | 2017 | β |
| Genome-wide association study of prostate-specific antigen levels identifies novel loci independent of prostate cancer. | Hoffmann TJ 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 Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the <i>GPR98</i> Locus on 5q14.3. | Guo T et al. | β | 2017 | β |
| Genome-Wide Linkage Analysis of Large Multiple Multigenerational Families Identifies Novel Genetic Loci for Coronary Artery Disease. | Guo Y et al. | β | 2017 | β |
| Genome-wide meta-analysis identifies a novel susceptibility signal at CACNA2D3 for nicotine dependence. | Yin X et al. | β | 2017 | β |
| Genome-wide meta-analysis of 241,258 adults accounting for smoking behaviour identifies novel loci for obesity traits. | Justice AE et al. | β | 2017 | β |
| Genome-Wide Polygenic Scores Predict Reading Performance Throughout the School Years. | Selzam S et al. | β | 2017 | β |
| Genome-wide study of resistant hypertension identified from electronic health records. | Dumitrescu L et al. | β | 2017 | β |
| Growth Differentiation Factor 15 as a Novel Biomarker for Metformin. | Gerstein HC et al. | β | 2017 | β |
| Heritability and GWAS Studies for Monocyte-Lymphocyte Ratio. | Lin BD et al. | β | 2017 | β |
| Highly accurate sequence imputation enables precise QTL mapping in Brown Swiss cattle. | Frischknecht M et al. | β | 2017 | β |
| High-Throughput Characterization of Blood Serum Proteomics of IBD Patients with Respect to Aging and Genetic Factors. | Di Narzo AF et al. | β | 2017 | β |
| HLA-check: evaluating HLA data from SNP information. | Jeanmougin M et al. | β | 2017 | β |
| Human genetic variation in <i>VAC14</i> regulates <i>Salmonella</i> invasion and typhoid fever through modulation of cholesterol. | Alvarez MI et al. | β | 2017 | β |
| Identification of 19 new risk loci and potential regulatory mechanisms influencing susceptibility to testicular germ cell tumor. | Litchfield K 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 |
| Imaging-wide association study: Integrating imaging endophenotypes in GWAS. | Xu Z 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 |
| Influence of genetic ancestry and socioeconomic status on type 2 diabetes in the diverse Colombian populations of ChocΓ³ and Antioquia. | Chande AT 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 |
| 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 between Social/Psychosocial Factors and Genetic Variants on Body Mass Index: A Gene-Environment Interaction Analysis in a Longitudinal Setting. | Zhao W et al. | β | 2017 | β |
| Investigating the Association of Genetic Admixture and Donor/Recipient Genetic Disparity with Transplant Outcomes. | Madbouly A et al. | β | 2017 | β |
| Investigating the Genetic Architecture of the PR Interval Using Clinical Phenotypes. | Mosley JD et al. | β | 2017 | β |
| Joint genetic analysis using variant sets reveals polygenic gene-context interactions. | Casale FP et al. | β | 2017 | β |
| Large scale meta-analysis characterizes genetic architecture for common psoriasis associated variants. | Tsoi LC 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 |
| Low-, high-coverage, and two-stage DNA sequencing in the design of the genetic association study. | Xu C et al. | β | 2017 | β |
| Mapping Complex Traits in a Diversity Outbred F1 Mouse Population Identifies Germline Modifiers of Metastasis in Human Prostate Cancer. | Winter JM et al. | β | 2017 | β |
| Mendelian randomisation analysis provides no evidence for a relationship between adult height and testicular cancer risk. | Levy M 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 |
| miR-183 cluster scales mechanical pain sensitivity by regulating basal and neuropathic pain genes. | Peng C et al. | β | 2017 | β |
| MixFit: Methodology for Computing Ancestry-Related Genetic Scores at the Individual Level and Its Application to the Estonian and Finnish Population Studies. | Haller T et al. | β | 2017 | β |
| Neuroimaging genetic analyses of novel candidate genes associated with reading and language. | Gialluisi A et al. | β | 2017 | β |
| Next-generation sequencing of a family with a high penetrance of monoclonal gammopathies for the identification of candidate risk alleles. | Bolli N et al. | β | 2017 | β |
| No Causal Association between 25-Hydroxyvitamin D and Features of Skin Aging: Evidence from a Bidirectional Mendelian Randomization Study. | Noordam R et al. | β | 2017 | β |
| No evidence of large genetic effects on steroid response in asthma patients. | Mosteller M et al. | β | 2017 | β |
| Omics studies: their use in diagnosis and reclassification of SLE and other systemic autoimmune diseases. | Teruel M et al. | β | 2017 | β |
| Pathway analysis of complex diseases for GWAS, extending to consider rare variants, multi-omics and interactions. | Kao PY et al. | β | 2017 | β |
| PEAR1 is not a major susceptibility gene for cardiovascular disease in a Flemish population. | Yang WY et al. | β | 2017 | β |
| Pleiotropy of genetic variants on obesity and smoking phenotypes: Results from the Oncoarray Project of The International Lung Cancer Consortium. | Wang T 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 educational achievement from DNA. | Selzam S et al. | β | 2017 | β |
| Psychophysiological endophenotypes to characterize mechanisms of known schizophrenia genetic loci. | Liu M et al. | β | 2017 | β |
| Rare coding variants in PLCG2, ABI3, and TREM2 implicate microglial-mediated innate immunity in Alzheimer's disease. | Sims R et al. | β | 2017 | β |
| Rationale and design of GENEiUS: a prospective observational study on the genetic and environmental determinants of body mass index evolution in Canadian undergraduate students. | Morassut RE et al. | β | 2017 | β |
| Relationships of Measured and Genetically Determined Height With the Cardiac Conduction System in Healthy Adults. | Kofler T et al. | β | 2017 | β |
| Resampling-based tests for Lasso in genome-wide association studies. | Arbet J et al. | β | 2017 | β |
| Resequencing Study Identifies Rare Renin-Angiotensin-Aldosterone System Variants Associated With Blood Pressure Salt-Sensitivity: The GenSalt Study. | Kelly TN et al. | β | 2017 | β |
| Reward-related ventral striatum activity links polygenic risk for attention-deficit/hyperactivity disorder to problematic alcohol use in young adulthood. | Carey CE et al. | β | 2017 | β |
| Scanning indels in the 5q22.1 region and identification of the TMEM232 susceptibility gene that is associated with atopic dermatitis in the Chinese Han population. | Wu YY et al. | β | 2017 | β |
| Schizophrenia-associated methylomic variation: molecular signatures of disease and polygenic risk burden across multiple brain regions. | Viana J et al. | β | 2017 | β |
| SCOPA and META-SCOPA: software for the analysis and aggregation of genome-wide association studies of multiple correlated phenotypes. | MΓ€gi R et al. | β | 2017 | β |
| Separate and combined effects of genetic variants and pre-treatment whole blood gene expression on response to exposure-based cognitive behavioural therapy for anxiety disorders. | Coleman JR et al. | β | 2017 | β |
| Single-trait and multi-trait genome-wide association analyses identify novel loci for blood pressure in African-ancestry populations. | Liang J et al. | β | 2017 | β |
| SNP-Based Heritability Estimates of Common and Specific Variance in Self- and Informant-Reported Neuroticism Scales. | Realo A et al. | β | 2017 | β |
| Suggestive association between variants in IL1RAPL and asthma symptoms in Latin American children. | Marques CR et al. | β | 2017 | β |
| Surfactant protein D is a causal risk factor for COPD: results of Mendelian randomisation. | Obeidat M et al. | β | 2017 | β |
| Susceptibility to Childhood Pneumonia: A Genome-Wide Analysis. | Hayden LP et al. | β | 2017 | β |
| Targeted neurogenesis pathway-based gene analysis identifies ADORA2A associated with hippocampal volume in mild cognitive impairment and Alzheimer's disease. | Horgusluoglu-Moloch E et al. | β | 2017 | β |
| Testing Departure from Hardy-Weinberg Proportions. | Wang J et al. | β | 2017 | β |
| The Role of Obesity, Type 2 Diabetes, and Metabolic Factors in Pancreatic Cancer: A Mendelian Randomization Study. | Carreras-Torres R et al. | β | 2017 | β |
| Trans-ethnic meta-regression of genome-wide association studies accounting for ancestry increases power for discovery and improves fine-mapping resolution. | MΓ€gi R 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 |
| Two genetic loci associated with ankle injury. | Kim SK et al. | β | 2017 | β |
| Use of genotyping-by-sequencing to determine the genetic structure in the medicinal plant chamomile, and to identify flowering time and alpha-bisabolol associated SNP-loci by genome-wide association mapping. | Otto LG et al. | β | 2017 | β |
| Variants in <i>WFS1</i> and Other Mendelian Deafness Genes Are Associated with Cisplatin-Associated Ototoxicity. | Wheeler HE et al. | β | 2017 | β |
| What can time-frequency and phase coherence measures tell us about the genetic basis of P3 amplitude? | Malone SM et al. | β | 2017 | β |
| Whole-genome association study of antibody response to Epstein-Barr virus in an African population: a pilot. | Sallah N et al. | β | 2017 | β |
| Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits. | Tachmazidou I et al. | β | 2017 | β |
| A combined reference panel from the 1000βGenomes and UK10K projects improved rare variant imputation in European and Chinese samples. | Chou WC et al. | β | 2016 | β |
| A genome-wide association meta-analysis on apolipoprotein A-IV concentrations. | Lamina C et al. | β | 2016 | β |
| A Large Genome-Wide Association Study of Age-Related Hearing Impairment Using Electronic Health Records. | Hoffmann TJ et al. | β | 2016 | β |
| An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation. | Hannon E 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 |
| A reference panel of 64,976 haplotypes for genotype imputation. | McCarthy S et al. | β | 2016 | β |
| Association Analysis of Noncoding Variants in Neuroligins 3 and 4X Genes with Autism Spectrum Disorder in an Italian Cohort. | Landini M et al. | β | 2016 | β |
| Cardiometabolic risk loci share downstream cis- and trans-gene regulation across tissues and diseases. | FranzΓ©n O et al. | β | 2016 | β |
| Caries and Innate Immunity: DEFB1 Gene Polymorphisms and Caries Susceptibility in Genetic Isolates from North-Eastern Italy. | Navarra CO et al. | β | 2016 | β |
| Clinical Utility of Multimarker Genetic Risk Scores for Prediction of Incident Coronary Heart Disease: A Cohort Study Among Over 51 000 Individuals of European Ancestry. | Iribarren C et al. | β | 2016 | β |
| Collapsed methylation quantitative trait loci analysis for low frequency and rare variants. | Richardson TG et al. | β | 2016 | β |
| Common variants at PVT1, ATG13-AMBRA1, AHI1 and CLEC16A are associated with selective IgA deficiency. | Bronson PG et al. | β | 2016 | β |
| Comparing performance of modern genotype imputation methods in different ethnicities. | Roshyara NR et al. | β | 2016 | β |
| Comparing power and precision of within-breed and multibreed genome-wide association studies of production traits using whole-genome sequence data for 5 French and Danish dairy cattle breeds. | van den Berg I et al. | β | 2016 | β |
| Defining a Contemporary Ischemic Heart Disease Genetic Risk Profile Using Historical Data. | Mosley JD et al. | β | 2016 | β |
| Discovery and refinement of genetic loci associated with cardiometabolic risk using dense imputation maps. | Iotchkova V 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 |
| eMERGE Phenome-Wide Association Study (PheWAS) identifies clinical associations and pleiotropy for stop-gain variants. | Verma A et al. | β | 2016 | β |
| Expression Quantitative Trait Locus Mapping Studies in Mid-secretory Phase Endometrial Cells Identifies HLA-F and TAP2 as Fecundability-Associated Genes. | Burrows CK et al. | β | 2016 | β |
| Fast set-based association analysis using summary data from GWAS identifies novel gene loci for human complex traits. | Bakshi A 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 |
| "Gap hunting" to characterize clustered probe signals in Illumina methylation array data. | Andrews SV et al. | β | 2016 | β |
| Gene expression elucidates functional impact of polygenic risk for schizophrenia. | Fromer M et al. | β | 2016 | β |
| Genetically Predicted Body Mass Index and Breast Cancer Risk: Mendelian Randomization Analyses of Data from 145,000 Women of European Descent. | Guo Y et al. | β | 2016 | β |
| Genetic Ancestry and Natural Selection Drive Population Differences in Immune Responses to Pathogens. | NΓ©dΓ©lec Y et al. | β | 2016 | β |
| Genetics and Genomics of Longitudinal Lung Function Patterns in Individuals with Asthma. | McGeachie MJ et al. | β | 2016 | β |
| Genome-wide associations for birth weight and correlations with adult disease. | Horikoshi M et al. | β | 2016 | β |
| Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. | Gharahkhani P et al. | β | 2016 | β |
| Genome-wide association study of caffeine metabolites provides new insights to caffeine metabolism and dietary caffeine-consumption behavior. | Cornelis MC et al. | β | 2016 | β |
| Genome-wide studies of von Willebrand factor propeptide identify loci contributing to variation in propeptide levels and von Willebrand factor clearance. | Ozel AB et al. | β | 2016 | β |
| Heritability of the shape of subcortical brain structures in the general population. | Roshchupkin GV et al. | β | 2016 | β |
| Identification of susceptibility gene associated with female primary SjΓΆgren's syndrome in Han Chinese by genome-wide association study. | Song IW et al. | β | 2016 | β |
| Improving drug safety: From adverse drug reaction knowledge discovery to clinical implementation. | Tan Y et al. | β | 2016 | β |
| Incorporating Concomitant Medications into Genome-Wide Analyses for the Study of Complex Disease and Drug Response. | Graham HT et al. | β | 2016 | β |
| Inherited variants affecting RNA editing may contribute to ovarian cancer susceptibility: results from a large-scale collaboration. | Permuth JB et al. | β | 2016 | β |
| Mendelian randomization analysis of a time-varying exposure for binary disease outcomes using functional data analysis methods. | Cao Y et al. | β | 2016 | β |
| Menopause accelerates biological aging. | Levine ME et al. | β | 2016 | β |
| Nationwide Genomic Study in Denmark Reveals Remarkable Population Homogeneity. | Athanasiadis G et al. | β | 2016 | β |
| Next-generation genotype imputation service and methods. | Das S et al. | β | 2016 | β |
| No Association of Coronary Artery Disease with X-Chromosomal Variants in Comprehensive International Meta-Analysis. | Loley C et al. | β | 2016 | β |
| Non-additive genome-wide association scan reveals a new gene associated with habitual coffee consumption. | Pirastu N et al. | β | 2016 | β |
| Novel Association of Genetic Markers Affecting CYP2A6 Activity and Lung Cancer Risk. | Patel YM et al. | β | 2016 | β |
| Performance of an electronic health record-based phenotype algorithm to identify community associated methicillin-resistant Staphylococcus aureus cases and controls for genetic association studies. | Jackson KL et al. | β | 2016 | β |
| Polygenic risk of Alzheimer disease is associated with early- and late-life processes. | Mormino EC et al. | β | 2016 | β |
| Population-specific genome-wide mapping of expression quantitative trait loci in the colon of Han Chinese. | Guo CC et al. | β | 2016 | β |
| Reference-based phasing using the Haplotype Reference Consortium panel. | Loh PR et al. | β | 2016 | β |
| rs2735383, located at a microRNA binding site in the 3'UTR of NBS1, is not associated with breast cancer risk. | Liu J et al. | β | 2016 | β |
| Sequence variants selected from a multi-breed GWAS can improve the reliability of genomic predictions in dairy cattle. | van den Berg I 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 |
| Survey of the Heritability and Sparse Architecture of Gene Expression Traits across Human Tissues. | Wheeler HE et al. | β | 2016 | β |
| The Genetic Overlap Between Hair and Eye Color. | Lin BD et al. | β | 2016 | β |
| Trans-ethnic Fine Mapping Highlights Kidney-Function Genes Linked to Salt Sensitivity. | Mahajan A et al. | β | 2016 | β |
| Trans-ethnic meta-analysis of genome-wide association studies for Hirschsprung disease. | Tang CS et al. | β | 2016 | β |
| Two-stage additional evidence support association of common variants in the HDAC3 with the increasing risk of schizophrenia susceptibility. | Jia X et al. | β | 2016 | β |
| Using Sequence Variants in Linkage Disequilibrium with Causative Mutations to Improve Across-Breed Prediction in Dairy Cattle: A Simulation Study. | van den Berg I et al. | β | 2016 | β |
| Xanthine oxidase gene variants and their association with blood pressure and incident hypertension: a population study. | Scheepers LE et al. | β | 2016 | β |