Genotype imputation with thousands of genomes.
paper
Cited
Public
- Authors
- Howie, Bryan; Marchini, Jonathan; Stephens, Matthew
- Year
- 2011
- Journal
- G3 (Bethesda, Md.)
- PMID
- 22384356
- DOI
- 10.1534/g3.111.001198
- PMCID
- PMC3276165
Genotype imputation is a statistical technique that is often used to increase the power and resolution of genetic association studies. Imputation methods work by using haplotype patterns in a reference panel to predict unobserved genotypes in a study dataset, and a number of approaches have been proposed for choosing subsets of reference haplotypes that will maximize accuracy in a given study population. These panel selection strategies become harder to apply and interpret as sequencing efforts like the 1000 Genomes Project produce larger and more diverse reference sets, which led us to develop an alternative framework. Our approach is built around a new approximation that uses local sequence similarity to choose a custom reference panel for each study haplotype in each region of the genome. This approximation makes it computationally efficient to use all available reference haplotypes, which allows us to bypass the panel selection step and to improve accuracy at low-frequency variants by capturing unexpected allele sharing among populations. Using data from HapMap 3, we show that our framework produces accurate results in a wide range of human populations. We also use data from the Malaria Genetic Epidemiology Network (MalariaGEN) to provide recommendations for imputation-based studies in Africa. We demonstrate that our approximation improves efficiency in large, sequence-based reference panels, and we discuss general computational strategies for modern reference datasets. Genome-wide association studies will soon be able to harness the power of thousands of reference genomes, and our work provides a practical way for investigators to use this rich information. New methodology from this study is implemented in the IMPUTE2 software package.
Imputation accuracy at low-frequency SNPs in HapMap 3 cross-validations in ASW and TSI, as a function of reference panel composition and khap value. These plots show the imputation accuracy of IMPUTE2 in (A) the ASW panel and (B) the TSI panel. The accuracy of each experiment is plotted on the y-axis as the mean R2 across all SNPs with MAF < 5% in the cross-validation panel (identified by the gray box in each plot). The x-axis shows the khap parameter, which scales linearly with the computational burden of imputation updates in IMPUTE2. Each curve represents a different reference panel, with panels added cumulatively in the order shown in the legends, reading from bottom to top. Similar plots for other HapMap 3 target panels can be found in File S1.
Imputation accuracy at low-frequency SNPs in HapMap 3 cross-validations, as a function of target panel, reference panel composition, khap value, and imputation method. These plots show the imputation accuracy of IMPUTE2 and Beagle in various cross-validation experiments. The accuracy of each experiment is plotted on the y-axis as the mean R2 across all SNPs with MAF < 5% in the cross-validation panel (identified by the gray box in each plot). The x-axis shows the khap parameter, which scales linearly with the computational burden of imputation updates in IMPUTE2. The solid black curves show how R2 varies with khap when using IMPUTE2 with a reference panel containing the full set of 2020 HapMap 3 haplotypes; the dashed black lines show the accuracy of Beagle with this reference panel. IMPUTE2 was also applied to subpanels of the full HapMap 3 panel, with results shown as orange curves. Similar plots for other observed SNP sets and imputed SNP MAFs can be found in File S3.
Imputation accuracy in Gambian validation set as a function of reference panel composition and minor allele frequency. These plots show the accuracy obtained when imputing masked SNPs in 1216 Gambian individuals from the MalariaGEN dataset using IMPUTE2 with khap = 500. Each reference panel is represented by a different color, and the results are shown for (A) all SNPs and (B) SNPs with MAF < 10% in the Gambian validation set. The results are binned by MAF, with 5% bins in (A) and 1% bins in (B). Each point on a curve is located in the middle of the corresponding MAF bin. The following reference panel codes are used in the legend: GMB (Gambia, 200 haplotypes); GHN (Ghana, 200 haplotypes); and HM3 (HapMap 3, 2022 haplotypes).
Comparison of imputation accuracy between IMPUTE2 and Beagle in Gambian validation set. This plot shows the accuracy obtained when imputing masked SNPs in 1216 Gambian individuals from the MalariaGEN dataset using either IMPUTE2 with khap = 500 (solid lines) or Beagle on default settings (dashed lines). Imputation was performed with a reference panel of Gambian haplotypes (blue) and a reference panel of Gambian, Ghanaian, and HapMap 3 African ancestry haplotypes (gray). The results are grouped into 5% MAF bins, and each point on a curve is located in the middle of the corresponding MAF bin. The following reference panel codes are used in the legend: GMB (Gambia, 200 haplotypes); GHN (Ghana, 200 haplotypes); and HM3.afr (HapMap 3 African ancestry, 822 haplotypes).
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| 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 leprosy in Malawi and Mali. | Gilchrist JJ et al. | β | 2022 | β |
| Genome-wide metabolite quantitative trait loci analysis (mQTL) in red blood cells from volunteer blood donors. | Moore A et al. | β | 2022 | β |
| Heritability Analyses Uncover Shared Genetic Effects of Lung Function and Change over Time. | Li D 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 human mitochondrial RNA cleavage sites and candidate RNA processing factors. | Carbajosa G et al. | β | 2022 | β |
| Imputation provides an opportunity to study filaggrin ( <i>FLG</i>) null mutations in large population cohorts that lack bespoke genotyping. | Paternoster L et al. | β | 2022 | β |
| Integrative multi-omics database (iMOMdb) of Asian pregnant women. | Pan H et al. | β | 2022 | β |
| Investigation of the genetic effect of 56 tobacco-smoking susceptibility genes on DNA methylation and RNA expression in human brain. | Yang Z et al. | β | 2022 | β |
| Kallikrein augments the anticoagulant function of the protein C system in thrombin generation. | Wan J et al. | β | 2022 | β |
| Life-threatening viral disease in a novel form of autosomal recessive IFNAR2 deficiency in the Arctic. | Duncan CJA et al. | β | 2022 | β |
| <i>BIRC6</i> modifies risk of invasive bacterial infection in Kenyan children. | Gilchrist JJ et al. | β | 2022 | β |
| MagicalRsq: Machine-learning-based genotype imputation quality calibration. | Sun Q et al. | β | 2022 | β |
| Methotrexate-related central neurotoxicity: clinical characteristics, risk factors and genome-wide association study in children treated for acute lymphoblastic leukemia. | Mateos MK et al. | β | 2022 | β |
| Multi-ancestry GWAS reveals excitotoxicity associated with outcome after ischaemic stroke. | Ibanez L et al. | β | 2022 | β |
| Pangenome-based genome inference allows efficient and accurate genotyping across a wide spectrum of variant classes. | Ebler J et al. | β | 2022 | β |
| Pharmacogenomic study of heart failure and candesartan response from the CHARM programme. | DubΓ© MP et al. | β | 2022 | β |
| Polygenic risk provides biological validity for the ICHD-3 criteria among Finnish migraine families. | HΓ€ppΓΆlΓ€ P 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 |
| Sex-specific genetic association between psychiatric disorders and cognition, behavior and brain imaging in children and adults. | Gui Y 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 |
| 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 |
| 3D facial phenotyping by biometric sibling matching used in contemporary genomic methodologies. | Hoskens H et al. | β | 2021 | β |
| Advances and challenges in quantitative delineation of the genetic architecture of complex traits. | Tang H et al. | β | 2021 | β |
| A Genome-wide Association Study for Concussion Risk. | Kim SK et al. | β | 2021 | β |
| A genome-wide association study of facial morphology identifies novel genetic loci in Han Chinese. | Huang Y et al. | β | 2021 | β |
| A genome-wide search for determinants of survival in 1926 patients with advanced colorectal cancer with follow-up in over 22,000 patients. | Wills 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 |
| Assessing the accuracy of imputation in the Gyr breed using different SNP panels. | Toro Ospina AM et al. | β | 2021 | β |
| Assessment of Imputation Quality: Comparison of Phasing and Imputation Algorithms in Real Data. | Stahl K et al. | β | 2021 | β |
| Association between the FTO rs9939609 single nucleotide polymorphism and dietary adherence during a 2-year caloric restriction intervention: Exploratory analyses from CALERIEβ’ phase 2. | Dorling JL et al. | β | 2021 | β |
| Association of an IGHV3-66 gene variant with Kawasaki disease. | Johnson TA et al. | β | 2021 | β |
| Association of COA1 with Patellar Tendonitis: A Genome-wide Association Analysis. | Kim SK et al. | β | 2021 | β |
| Association of genetic variants of FBXO32 and FOXO6 in the FOXO pathway with breast cancer risk. | Wang H et al. | β | 2021 | β |
| A Type 2 Diabetes Subtype Responsive to ACCORD Intensive Glycemia Treatment. | Mariam A et al. | β | 2021 | β |
| Cell type-specific and cross-population polygenic risk score analyses of <i>MIR137</i> gene pathway in schizophrenia. | Yao Y et al. | β | 2021 | β |
| Childhood adversity correlates with stable changes in DNA methylation trajectories in children and converges with epigenetic signatures of prenatal stress. | Martins J et al. | β | 2021 | β |
| Creating artificial human genomes using generative neural networks. | Yelmen B et al. | β | 2021 | β |
| Detection of quantitative trait loci from RNA-seq data with or without genotypes using BaseQTL. | Vigorito E et al. | β | 2021 | β |
| Discovery of new genetic loci for male sexual orientation in Han population. | Hu SH et al. | β | 2021 | β |
| DNA Repair Gene Polymorphisms and Chromosomal Aberrations in Exposed Populations. | Niazi Y et al. | β | 2021 | β |
| Fast two-stage phasing of large-scale sequence data. | Browning BL et al. | β | 2021 | β |
| Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 2q35 and 8p12 in Europeans, Melanesians and Polynesians. | Guibon J et al. | β | 2021 | β |
| Genetic loci associated with skin pigmentation in African Americans and their effects on vitamin D deficiency. | Batai K et al. | β | 2021 | β |
| Genetic prediction of complex traits with polygenic scores: a statistical review. | Ma Y et al. | β | 2021 | β |
| Genetic Predictors of Severe Skin Toxicity in Patients with Stage III Colon Cancer Treated with Cetuximab: NCCTG N0147 (Alliance). | Labadie JD et al. | β | 2021 | β |
| Genetic variants associated with rotator cuff tearing utilizing multiple population-based genetic resources. | Tashjian RZ et al. | β | 2021 | β |
| Genome-wide analyses of smoking behaviors in schizophrenia: Findings from the Psychiatric Genomics Consortium. | Peterson RE et al. | β | 2021 | β |
| Genome-wide association and functional interrogation identified a variant at 3p26.1 modulating ovarian cancer survival among Chinese women. | Dai H et al. | β | 2021 | β |
| Genome-wide association studies in Samoans give insight into the genetic architecture of fasting serum lipid levels. | Carlson JC et al. | β | 2021 | β |
| Genome-wide association study of antipsychotic-induced sinus bradycardia in Chinese schizophrenia patients. | Weng S et al. | β | 2021 | β |
| Genome-wide association study of body fat distribution traits in Hispanics/Latinos from the HCHS/SOL. | Justice AE et al. | β | 2021 | β |
| Genome-wide association study of panic disorder reveals genetic overlap with neuroticism and depression. | Forstner AJ 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 |
| Identification of Three Loci Associated with Achilles Tendon Injury Risk from a Genome-wide Association Study. | Kim SK et al. | β | 2021 | β |
| Impact of pre- and post-variant filtration strategies on imputation. | Charon C et al. | β | 2021 | β |
| Improving the resolution of canine genome-wide association studies using genotype imputation: A study of two breeds. | Jenkins CA 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 |
| Insights into the genetic architecture of the human face. | White JD et al. | β | 2021 | β |
| Large-scale association analyses identify host factors influencing human gut microbiome composition. | Kurilshikov A et al. | β | 2021 | β |
| Long-term cost-effectiveness of interventions for obesity: A mendelian randomisation study. | Harrison S et al. | β | 2021 | β |
| Mendelian randomization analysis of arsenic metabolism and pulmonary function within the Hispanic Community Health Study/Study of Latinos. | Scannell Bryan M et al. | β | 2021 | β |
| MiR-3130-5p is an intermediate modulator of 2q33 and influences the invasiveness of lung adenocarcinoma by targeting NDUFS1. | Zhan J et al. | β | 2021 | β |
| MLST-Based Analysis and Antimicrobial Resistance of <i>Staphylococcus epidermidis</i> from Cases of Sheep Mastitis in Greece. | Katsarou EI et al. | β | 2021 | β |
| Multi-ethnic GWAS and meta-analysis of sleep quality identify MPP6 as a novel gene that functions in sleep center neurons. | Khoury S et al. | β | 2021 | β |
| Multi-Omics Approach in the Identification of Potential Therapeutic Biomolecule for COVID-19. | Singh R et al. | β | 2021 | β |
| Multi-omics colocalization with genome-wide association studies reveals a context-specific genetic mechanism at a childhood onset asthma risk locus. | Soliai MM et al. | β | 2021 | β |
| Multiple-ancestry genome-wide association study identifies 27 loci associated with measures of hemolysis following blood storage. | Page GP et al. | β | 2021 | β |
| Privacy-preserving genotype imputation in a trusted execution environment. | Dokmai N et al. | β | 2021 | β |
| Recommendations for Statistical Reporting in Cardiovascular Medicine: A Special Report From the American Heart Association. | Althouse AD et al. | β | 2021 | β |
| RefRGim: an intelligent reference panel reconstruction method for genotype imputation with convolutional neural networks. | Shi S et al. | β | 2021 | β |
| Resolving trained immunity with systems biology. | Koeken VACM et al. | β | 2021 | β |
| Risk variants and polygenic architecture of disruptive behavior disorders in the context of attention-deficit/hyperactivity disorder. | Demontis D et al. | β | 2021 | β |
| RNA polymerase mapping in plants identifies intergenic regulatory elements enriched in causal variants. | Lozano R 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 Intersection of the Genetic Architectures of Orofacial Clefts and Normal Facial Variation. | Indencleef K et al. | β | 2021 | β |
| Three genes associated with anterior and posterior cruciate ligament injury : a genome-wide association analysis. | Kim SK et al. | β | 2021 | β |
| Transethnic analysis of the human leukocyte antigen region for ulcerative colitis reveals not only shared but also ethnicity-specific disease associations. | Degenhardt F et al. | β | 2021 | β |
| Ultrafast homomorphic encryption models enable secure outsourcing of genotype imputation. | Kim M et al. | β | 2021 | β |
| Vitamin B<sub>12</sub> and transcobalamin in bovine milk: Genetic variation and genome-wide association with loci along the genome. | Gebreyesus G et al. | β | 2021 | β |
| A Custom Genotyping Array Reveals Population-Level Heterogeneity for the Genetic Risks of Prostate Cancer and Other Cancers in Africa. | Harlemon M et al. | β | 2020 | β |
| Adapting Genotyping-by-Sequencing and Variant Calling for Heterogeneous Stock Rats. | Gileta AF et al. | β | 2020 | β |
| A genome-wide association study identifies FSHR rs2300441 associated with follicle-stimulating hormone levels. | Yan J et al. | β | 2020 | β |
| A genome-wide association study implicates the BMP7 locus as a risk factor for nonsyndromic metopic craniosynostosis. | Justice CM et al. | β | 2020 | β |
| A genome-wide association study on medulloblastoma. | Dahlin AM et al. | β | 2020 | β |
| A genotype imputation method for de-identified haplotype reference information by using recurrent neural network. | Kojima K et al. | β | 2020 | β |
| A mega-analysis of expression quantitative trait loci in retinal tissue. | Strunz T 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 |
| Analysis of mitochondrial m1A/G RNA modification reveals links to nuclear genetic variants and associated disease processes. | Ali AT et al. | β | 2020 | β |
| A network analysis to identify mediators of germline-driven differences in breast cancer prognosis. | Escala-Garcia M et al. | β | 2020 | β |
| An integrative analysis of genome-wide association study and regulatory SNP annotation datasets identified candidate genes for bipolar disorder. | Qi X et al. | β | 2020 | β |
| Association between GLP-1 receptor gene polymorphisms with reward learning, anhedonia and depression diagnosis. | Yapici-Eser H et al. | β | 2020 | β |
| Associations of NOD2 polymorphisms with Erysipelotrichaceae in stool of in healthy first degree relatives of Crohn's disease subjects. | Turpin W et al. | β | 2020 | β |
| A Variation in FGF14 Is Associated with Downbeat Nystagmus in a Genome-Wide Association Study. | Strupp M 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 |
| Causal Relationship between Adiponectin and Diabetic Retinopathy: A Mendelian Randomization Study in an Asian Population. | Huang YC et al. | β | 2020 | β |
| Combining Partially Overlapping Multi-Omics Data in Databases Using Relationship Matrices. | Akdemir D et al. | β | 2020 | β |
| Distinguishing pleiotropy from linked QTL between milk production traits and mastitis resistance in Nordic Holstein cattle. | Cai Z et al. | β | 2020 | β |
| Functional genomic analyses uncover APOE-mediated regulationΒ ofΒ brain and cerebrospinal fluid beta-amyloid levels in Parkinson disease. | Ibanez L et al. | β | 2020 | β |
| Gene-by-gene interactions associated with the risk of conotruncal heart defects. | Lyu C 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 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 factors for susceptibility to and manifestations of neuromyelitis optica. | Matsushita T et al. | β | 2020 | β |
| Genetic Variant Associated With Survival of Patients With Stage II-III Colon Cancer. | Penney KL et al. | β | 2020 | β |
| Genome-Wide Association Meta-Analysis of Single-Nucleotide Polymorphisms and Symptomatic Venous Thromboembolism during Therapy for Acute Lymphoblastic Leukemia and Lymphoma in Caucasian Children. | Mateos MK et al. | β | 2020 | β |
| Genotype imputation using the Positional Burrows Wheeler Transform. | Rubinacci S et al. | β | 2020 | β |
| Glycosylation of immunoglobulin G is regulated by a large network of genes pleiotropic with inflammatory diseases. | KlariΔ L et al. | β | 2020 | β |
| Identification of type 2 diabetes loci in 433,540 East Asian individuals. | Spracklen CN et al. | β | 2020 | β |
| Impact of genetic polymorphisms in kinetochore and spindle assembly genes on chromosomal aberration frequency in healthy humans. | Niazi Y et al. | β | 2020 | β |
| Integrated lipidomics and proteomics network analysis highlights lipid and immunity pathways associated with Alzheimer's disease. | Xu J et al. | β | 2020 | β |
| Integrating genome-wide association study and methylation functional annotation data identified candidate genes and pathways for schizophrenia. | Qi X et al. | β | 2020 | β |
| Integrative Genomic Enrichment Analysis Identified the Brain Regions and Development Stages Related to Anorexia Nervosa and Obsessive-Compulsive Disorder. | Cheng B et al. | β | 2020 | β |
| Investigating evidence for a causal association between inflammation and self-harm: A multivariable Mendelian Randomisation study. | Russell AE 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 |
| Overcoming the challenges of imputation of rare variants in a Taiwanese cohort. | Chattopadhyay A et al. | β | 2020 | β |
| Polygenic risk for autism spectrum disorder associates with anger recognition in a neurodevelopment-focused phenome-wide scan of unaffected youths from a population-based cohort. | Wendt FR 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 |
| Polymorphisms in the Angiogenesis-Related Genes <i>EFNB2</i>, <i>MMP2</i> and <i>JAG1</i> Are Associated with Survival of Colorectal Cancer Patients. | Scherer D et al. | β | 2020 | β |
| Population genetic simulation study of power in association testing across genetic architectures and study designs. | Tong DMH et al. | β | 2020 | β |
| Predictive ability of host genetics and rumen microbiome for subclinical ketosis. | Gebreyesus G et al. | β | 2020 | β |
| Pregnancy does not modify the risk of MS in genetically susceptible women. | Adams CJ et al. | β | 2020 | β |
| Profiling gene expression in the human dentate gyrus granule cell layer reveals insights into schizophrenia and its genetic risk. | Jaffe AE et al. | β | 2020 | β |
| Recipient and donor genetic variants associated with mortality after allogeneic hematopoietic cell transplantation. | Martin PJ et al. | β | 2020 | β |
| Shared polygenic risk for ADHD, executive dysfunction and other psychiatric disorders. | Chang S 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 Phenotypic Consequences of Genetic Divergence between Admixed Latin American Populations: Antioquia and ChocΓ³, Colombia. | Chande AT et al. | β | 2020 | β |
| Transethnic meta-analysis of metabolic syndrome in a multiethnic study. | Willems EL et al. | β | 2020 | β |
| Understanding polygenic models, their development and the potential application of polygenic scores in healthcare. | Babb de Villiers C et al. | β | 2020 | β |
| Urinary metabolic phenotyping for Alzheimer's disease. | Kurbatova N et al. | β | 2020 | β |
| Variants in <i>SNAI1</i>, <i>AMDHD1</i> and <i>CUBN</i> in vitamin D pathway genes are associated with breast cancer risk: a large-scale analysis of 14 GWASs in the DRIVE study. | Wang H et al. | β | 2020 | β |
| A Combined Transcriptomic and Genomic Analysis Identifies a Gene Signature Associated With the Response to Anti-TNF Therapy in Rheumatoid Arthritis. | Aterido A et al. | β | 2019 | β |
| A genetic sum score of risk alleles associated with body mass index interacts with socioeconomic position in the Heinz Nixdorf Recall Study. | Frank M et al. | β | 2019 | β |
| A genome-wide association and admixture mapping study of bronchodilator drug response in African Americans with asthma. | Spear ML et al. | β | 2019 | β |
| A <i>Trans</i>-Ethnic Genome-Wide Association Study of Uterine Fibroids. | Edwards TL et al. | β | 2019 | β |
| Analysis of the genetic basis of height in large Jewish nuclear families. | Zeevi D et al. | β | 2019 | β |
| Association of imputed prostate cancer transcriptome with disease risk reveals novel mechanisms. | Emami NC et al. | β | 2019 | β |
| Clarin-2 is essential for hearing by maintaining stereocilia integrity and function. | Dunbar LA et al. | β | 2019 | β |
| Common BACE2 Polymorphisms are Associated with Altered Risk for Alzheimer's Disease and CSF Amyloid Biomarkers in APOE Ξ΅4 Non-Carriers. | Huentelman M et al. | β | 2019 | β |
| Comprehensive longitudinal study of epigenetic mutations in aging. | Wang Y et al. | β | 2019 | β |
| CSHAP: efficient haplotype frequency estimation based on sparse representation. | Zhou Y et al. | β | 2019 | β |
| Discovery of the first genome-wide significant risk loci for attention deficit/hyperactivity disorder. | Demontis D et al. | β | 2019 | β |
| Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. | Cai Z et al. | β | 2019 | β |
| Dopamine genetic risk is related to food addiction and body mass through reduced reward-related ventral striatum activity. | Romer AL et al. | β | 2019 | β |
| Early-onset autoimmune vitiligo associated with an enhancer variant haplotype that upregulates class II HLA expression. | Jin Y et al. | β | 2019 | β |
| EDAR, LYPLAL1, PRDM16, PAX3, DKK1, TNFSF12, CACNA2D3, and SUPT3H gene variants influence facial morphology in a Eurasian population. | Li Y et al. | β | 2019 | β |
| Effect of adiponectin level and genetic variation of its receptors on diabetic retinopathy: A case-control study. | Liao WL 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 |
| Generating High Density, Low Cost Genotype Data in Soybean [<i>Glycine max</i> (L.) Merr.]. | Happ MM et al. | β | 2019 | β |
| Genetic architecture of human thinness compared to severe obesity. | Riveros-McKay F 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 Variants Associated With Immunosuppressant Pharmacokinetics and Adverse Effects in the DeKAF Genomics Genome-wide Association Studies. | Oetting WS 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 of genes in the NER pathway associated with risk of breast cancer: A large-scale analysis of 14 published GWAS datasets in the DRIVE study. | Ge J et al. | β | 2019 | β |
| Genetic variation associated with chromosomal aberration frequency: A genome-wide association study. | Niazi Y et al. | β | 2019 | β |
| Genetic variation at the glycosaminoglycan metabolism pathway contributes to the risk of psoriatic arthritis but not psoriasis. | Aterido A et al. | β | 2019 | β |
| Genetic variation in GC and CYP2R1 affects 25-hydroxyvitamin D concentration and skeletal parameters: A genome-wide association study in 24-month-old Finnish children. | KΓ€mpe A et al. | β | 2019 | β |
| Genome wide analysis for mouth ulcers identifies associations at immune regulatory loci. | Dudding T et al. | β | 2019 | β |
| Genome-wide Associations Reveal Human-Mouse Genetic Convergence and Modifiers of Myogenesis, CPNE1 and STC2. | Hernandez Cordero AI et al. | β | 2019 | β |
| Genomewide Association Study Confirming the Association of <i>NAT2</i> with Susceptibility to Antituberculosis Drug-Induced Liver Injury in Thai Patients. | Suvichapanich S et al. | β | 2019 | β |
| Genome-wide association study implicates CHRNA2 in cannabis use disorder. | Demontis D et al. | β | 2019 | β |
| Genome-wide association study of alcohol dependence in male Han Chinese and cross-ethnic polygenic risk score comparison. | Sun Y et al. | β | 2019 | β |
| Genome-wide association study of germline variants and breast cancer-specific mortality. | Escala-Garcia M 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 |
| Genotype Imputation in Winter Wheat Using First-Generation Haplotype Map SNPs Improves Genome-Wide Association Mapping and Genomic Prediction of Traits. | Nyine M et al. | β | 2019 | β |
| GWAS of QRS duration identifies new loci specific to Hispanic/Latino populations. | Swenson BR et al. | β | 2019 | β |
| GWAS of Suicide Attempt in Psychiatric Disorders and Association With Major Depression Polygenic Risk Scores. | Mullins N et al. | β | 2019 | β |
| Identification of 12 genetic loci associated with human healthspan. | Zenin A et al. | β | 2019 | β |
| IL-10 polymorphisms +434T/C, +504G/T, and -2849C/T may predispose to tubulointersititial nephritis and uveitis in pediatric population. | RytkΓΆnen S et al. | β | 2019 | β |
| Insights into malaria susceptibility using genome-wide data on 17,000 individuals from Africa, Asia and Oceania. | Malaria Genomic Epidemiology Network | β | 2019 | β |
| Integrating genome-wide association study with regulatory SNP annotation information identified candidate genes and pathways for schizophrenia. | Liang X et al. | β | 2019 | β |
| Joint sequencing of human and pathogen genomes reveals the genetics of pneumococcal meningitis. | Lees JA et al. | β | 2019 | β |
| Linkage mapping and quantitative trait loci analysis of sweetness and other fruit quality traits in papaya. | Nantawan U et al. | β | 2019 | β |
| Male-pattern baldness and incident coronary heart disease and risk factors in the Heinz Nixdorf Recall Study. | Pechlivanis S et al. | β | 2019 | β |
| Mendelian randomization of inorganic arsenic metabolism as a risk factor for hypertension- and diabetes-related traits among adults in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL) cohort. | Scannell Bryan M et al. | β | 2019 | β |
| New insights into malaria susceptibility from the genomes of 17,000 individuals from Africa, Asia, and Oceania | Malaria Genomic Epidemiology Network | 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 |
| Prioritizing candidate genes for fertility in dairy cows using gene-based analysis, functional annotation and differential gene expression. | Cai Z et al. | β | 2019 | β |
| Quantification of frequency-dependent genetic architectures in 25 UK Biobank traits reveals action of negative selection. | Schoech AP 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 |
| Schizophrenia risk and reproductive success: a Mendelian randomization study. | Lawn RB et al. | β | 2019 | β |
| Sequence Variation Associated with SLC12A5 Gene Expression Is Linked to Brain Structure and Function in Healthy Adults. | Gregory MD et al. | β | 2019 | β |
| Sex differences in the genetic architecture of obsessive-compulsive disorder. | Khramtsova EA et al. | β | 2019 | β |
| Shared Molecular Neuropathology Across Major Psychiatric Disorders Parallels Polygenic Overlap. | Gandal MJ et al. | β | 2019 | β |
| SumHer better estimates the SNP heritability of complex traits from summary statistics. | Speed D et al. | β | 2019 | β |
| Tacrolimus troughs and genetic determinants of metabolism in kidney transplant recipients: A comparison of four ancestry groups. | Mohamed ME et al. | β | 2019 | β |
| The eMERGE genotype set of 83,717 subjects imputed to ~40βmillion variants genome wide and association with the herpes zoster medical record phenotype. | Stanaway IB et al. | β | 2019 | β |
| The ferroportin Q248H mutation protects from anemia, but not malaria or bacteremia. | Muriuki JM et al. | β | 2019 | β |
| The role of polygenic risk score gene-set analysis in the context of the omnigenic model of schizophrenia. | Rammos A et al. | β | 2019 | β |
| Very low-depth whole-genome sequencing in complex trait association studies. | Gilly A et al. | β | 2019 | β |
| Weighting sequence variants based on their annotation increases the power of genome-wide association studies in dairy cattle. | Cai Z et al. | β | 2019 | 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 |
| Age at first birth in women is genetically associated with increased risk of schizophrenia. | Ni G et al. | β | 2018 | β |
| A genome-wide association study identifies a susceptibility locus for biliary atresia on 2p16.1 within the gene EFEMP1. | Chen Y et al. | β | 2018 | β |
| A Genome-Wide Association Study of Idiopathic Dilated Cardiomyopathy in African Americans. | Xu H 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 mega-analysis of expression quantitative trait loci (eQTL) provides insight into the regulatory architecture of gene expression variation in liver. | Strunz T et al. | β | 2018 | β |
| Analysis of the association of EPHB6, EFNB1 and EFNB3 variants with hypertension risks in males with hypogonadism. | Wu T et al. | β | 2018 | β |
| An imputation platform to enhance integration of rice genetic resources. | Wang DR et al. | β | 2018 | β |
| A One-Penny Imputed Genome from Next-Generation Reference Panels. | Browning BL et al. | β | 2018 | β |
| A Rare Missense Variant in TCF7L2 Associates with Colorectal Cancer Risk by Interacting with a GWAS-Identified Regulatory Variant in the MYC Enhancer. | Chang J et al. | β | 2018 | β |
| Association analysis for udder index and milking speed with imputed whole-genome sequence variants in Nordic Holstein cattle. | Jardim JG et al. | β | 2018 | β |
| Association of LPA Variants With Aortic Stenosis: A Large-Scale Study Using Diagnostic and Procedural Codes From Electronic Health Records. | Chen HY et al. | β | 2018 | β |
| BDNF genotype is associated with hippocampal volume in mild traumatic brain injury. | Hayes JP et al. | β | 2018 | β |
| Bioinformatics Approaches to Predict Drug Responses from Genomic Sequencing. | Madhukar NS et al. | β | 2018 | β |
| BRCA1/2-negative, high-risk breast cancers (BRCAX) for Asian women: genetic susceptibility loci and their potential impacts. | Lee JY et al. | β | 2018 | β |
| Classifying Alzheimer's disease with brain imaging and genetic data using a neural network framework. | Ning K et al. | β | 2018 | β |
| Convergence of placenta biology and genetic risk for schizophrenia. | Ursini G 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 |
| Dissecting closely linked association signals in combination with the mammalian phenotype database can identify candidate genes in dairy cattle. | Cai Z et al. | β | 2018 | β |
| Early human dispersals within the Americas. | Moreno-Mayar JV et al. | β | 2018 | β |
| Efficient genome-wide genotyping strategies and data integration in crop plants. | Torkamaneh D et al. | β | 2018 | β |
| Ensemble genomic analysis in human lung tissue identifies novel genes for chronic obstructive pulmonary disease. | Morrow JD et al. | β | 2018 | β |
| Evaluation and application of summary statistic imputation to discover new height-associated loci. | RΓΌeger S et al. | β | 2018 | β |
| Exome sequencing in large, multiplex bipolar disorder families from Cuba. | Maaser A et al. | β | 2018 | β |
| Exome-wide analysis identifies three low-frequency missense variants associated with pancreatic cancer risk in Chinese populations. | Chang J et al. | β | 2018 | β |
| Exploratory genome-wide association analysis of response to ketamine and a polygenic analysis of response to scopolamine in depression. | Guo W et al. | β | 2018 | β |
| Genetic overlap between endometriosis and endometrial cancer: evidence from cross-disease genetic correlation and GWAS meta-analyses. | Painter JN et al. | β | 2018 | β |
| Genetic predisposition to obesity, restrained eating and changes in body weight: a population-based prospective study. | Konttinen H et al. | β | 2018 | β |
| Genetics of self-reported risk-taking behaviour, trans-ethnic consistency and relevance to brain gene expression. | Strawbridge RJ 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 of Grain Yield Stability and Environmental Interactions in a Multiparental Soybean Population. | Xavier A et al. | β | 2018 | β |
| Genome-wide analysis of self-reported risk-taking behaviour and cross-disorder genetic correlations in the UK Biobank cohort. | Strawbridge RJ et al. | β | 2018 | β |
| Genome-wide association studies for corneal and refractive astigmatism in UK Biobank demonstrate a shared role for myopia susceptibility loci. | Shah RL et al. | β | 2018 | β |
| Genome-wide association study identifies novel susceptibility loci for migraine in Han Chinese resided in Taiwan. | Chen SP et al. | β | 2018 | β |
| Genome-wide association study identifies the common variants in CYP3A4 and CYP3A5 responsible for variation in tacrolimus trough concentration in Caucasian kidney transplant recipients. | Oetting WS et al. | β | 2018 | β |
| Genome-Wide Association Study in Vestibular Neuritis: Involvement of the Host Factor for HSV-1 Replication. | Rujescu D et al. | β | 2018 | β |
| Genome-wide association study of a nicotine metabolism biomarker in African American smokers: impact of chromosome 19 genetic influences. | Chenoweth MJ et al. | β | 2018 | β |
| Genome-wide association study of depressive symptoms in the Hispanic Community Health Study/Study of Latinos. | Dunn EC et al. | β | 2018 | β |
| Genome-wide association study of habitual physical activity in over 377,000 UK Biobank participants identifies multiple variants including CADM2 and APOE. | Klimentidis YC 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 mapping of global-to-local genetic effects on human facial shape. | Claes P 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-analyses of stratified depression in Generation Scotland and UK Biobank. | Hall LS et al. | β | 2018 | β |
| Genomic Dissection of Bipolar Disorder and Schizophrenia, Including 28 Subphenotypes. | Bipolar Disorder and Schizophrenia Working Group of the Psychiatric Genomics Consortium. Electronic address: douglas.ruderfer@vanderbilt.edu et al. | β | 2018 | β |
| Genotype imputation for Han Chinese population using Haplotype Reference Consortium as reference. | Lin Y et al. | β | 2018 | β |
| Genotype Imputation from Large Reference Panels. | Das S et al. | β | 2018 | β |
| Haplotype Heritability Mapping Method Uncovers Missing Heritability of Complex Traits. | Shirali M et al. | β | 2018 | β |
| Higher Polygenetic Predisposition for Asthma in Cow's Milk Allergic Children. | Jansen PR et al. | β | 2018 | β |
| Highly conserved extended haplotypes of the major histocompatibility complex and their relationship to multiple sclerosis susceptibility. | Goodin DS et al. | β | 2018 | β |
| Identification of 55,000 Replicated DNA Methylation QTL. | McRae AF et al. | β | 2018 | β |
| Identification of 613 new loci associated with heel bone mineral density and a polygenic risk score for bone mineral density, osteoporosis and fracture. | Kim SK | β | 2018 | β |
| Identification of an Amino Acid Motif in HLA-DRΞ²1 That Distinguishes Uveitis in Patients With Juvenile Idiopathic Arthritis. | Haasnoot AJW et al. | β | 2018 | β |
| Integrative Genomic Analysis Predicts Causative <i>Cis</i>-Regulatory Mechanisms of the Breast Cancer-Associated Genetic Variant rs4415084. | Zhang Y et al. | β | 2018 | β |
| Local adaptation in European populations affected the genetics of psychiatric disorders and behavioral traits. | Polimanti R et al. | β | 2018 | β |
| MicroRNA-guided prioritization of genome-wide association signals reveals the importance of microRNA-target gene networks for complex traits in cattle. | Fang L et al. | β | 2018 | β |
| Multilocus genetic risk score for diabetic retinopathy in the Han Chinese population of Taiwan. | Liao WL et al. | β | 2018 | β |
| Multi-omics differentially classify disease state and treatment outcome in pediatric Crohn's disease. | Douglas GM et al. | β | 2018 | β |
| Multiscale Analysis of Independent Alzheimer's Cohorts Finds Disruption of Molecular, Genetic, and Clinical Networks by Human Herpesvirus. | Readhead B et al. | β | 2018 | β |
| Pharmacogenetic Analysis of the Model-Based Pharmacokinetics of Five Anti-HIV Drugs: How Does This Influence the Effect of Aging? | Chen J et al. | β | 2018 | β |
| Polygenic pleiotropy and potential causal relationships between educational attainment, neurobiological profile, and positive psychotic symptoms. | Lin YF 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 |
| Prioritizing candidate genes post-GWAS using multiple sources of data for mastitis resistance in dairy cattle. | Cai Z et al. | β | 2018 | β |
| Quality Control of Common and Rare Variants. | Panoutsopoulou K et al. | β | 2018 | β |
| Regional genetic differences among Japanese populations and performance of genotype imputation using whole-genome reference panel of the Tohoku Medical Megabank Project. | Yasuda J et al. | β | 2018 | β |
| Renal compartment-specific genetic variation analyses identify new pathways in chronic kidney disease. | Qiu C et al. | β | 2018 | β |
| Research Techniques Made Simple: Using Genome-WideΒ Association Studies to Understand Complex CutaneousΒ Disorders. | Tsoi LC et al. | β | 2018 | β |
| Revealing the complex genetic architecture of obsessive-compulsive disorder using meta-analysis. | International Obsessive Compulsive Disorder Foundation Genetics Collaborative (IOCDF-GC) and OCD Collaborative Genetics Association Studies (OCGAS) | β | 2018 | β |
| Schizophrenia polygenic risk score predicts mnemonic hippocampal activity. | Chen Q et al. | β | 2018 | β |
| Shared molecular neuropathology across major psychiatric disorders parallels polygenic overlap. | Gandal MJ et al. | β | 2018 | β |
| Six NSCL/P Loci Show Associations With Normal-Range Craniofacial Variation. | Indencleef K 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 |
| SNPs Associated With Testosterone Levels Influence Human Facial Morphology. | Roosenboom J et al. | β | 2018 | β |
| Strategies for phasing and imputation in a population isolate. | Herzig AF et al. | β | 2018 | β |
| The cAMP responsive element-binding (CREB)-1 gene increases risk of major psychiatric disorders. | Xiao X et al. | β | 2018 | β |
| The chromosome 6q22.33 region is associated with age at diagnosis of type 1 diabetes and disease risk in those diagnosed under 5Β years of age. | Inshaw JRJ 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 |
| Transancestral GWAS of alcohol dependence reveals common genetic underpinnings with psychiatric disorders. | Walters RK et al. | β | 2018 | β |
| Whole-exome sequencing identifies common and rare variant metabolic QTLs in a Middle Eastern population. | Yousri NA et al. | β | 2018 | β |
| A chromosome 5q31.1 locus associates with tuberculin skin test reactivity in HIV-positive individuals from tuberculosis hyper-endemic regions in east Africa. | Sobota RS et al. | β | 2017 | β |
| A Common Polymorphism in a Williams Syndrome Gene Predicts Amygdala Reactivity and Extraversion in Healthy Adults. | Swartz JR et al. | β | 2017 | β |
| A generalized Levene's scale test for variance heterogeneity in the presence of sample correlation and group uncertainty. | Soave D 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 large multi-ethnic genome-wide association study identifies novel genetic loci for intraocular pressure. | Choquet H et al. | β | 2017 | β |
| Ancestry-specific and sex-specific risk alleles identified in a genome-wide gene-by-alcohol dependence interaction study of risky sexual behaviors. | Polimanti R et al. | β | 2017 | β |
| An Examination of Polygenic Score Risk Prediction in Individuals With First-Episode Psychosis. | Vassos E et al. | β | 2017 | β |
| A Preliminary Genome-Wide Association Study of Pain-Related Fear: Implications for Orofacial Pain. | Randall CL et al. | β | 2017 | β |
| Association between a common immunoglobulin heavy chain allele and rheumatic heart disease risk in Oceania. | Parks T et al. | β | 2017 | β |
| Associations between RNA splicing regulatory variants of stemness-related genes and racial disparities in susceptibility to prostate cancer. | Wang Y et al. | β | 2017 | β |
| CAGI4 Crohn's exome challenge: Marker SNP versus exome variant models for assigning risk of Crohn disease. | Pal LR 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 |
| Common and rare genetic markers of lipid variation in subjects with type 2 diabetes from the ACCORD clinical trial. | Marvel SW et al. | β | 2017 | β |
| Coronary Artery Calcification and Rheumatoid Arthritis: Lack of Relationship to Risk Alleles for Coronary Artery Disease in the General Population. | Ferraz-Amaro I et al. | β | 2017 | β |
| Cross-Phenotype Polygenic Risk Score Analysis of Persistent Post-Concussive Symptoms in U.S. Army Soldiers with Deployment-Acquired Traumatic Brain Injury. | Polimanti R et al. | β | 2017 | β |
| Evaluation of MC1R high-throughput nucleotide sequencing data generated by the 1000 Genomes Project. | Marano LA 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 |
| Exhaustive search for epistatic effects on the human methylome. | Egli T et al. | β | 2017 | β |
| Fine-mapping inflammatory bowel disease loci to single-variant resolution. | Huang H et al. | β | 2017 | β |
| Fourteen sequence variants that associate with multiple sclerosis discovered by meta-analysis informed by genetic correlations. | Olafsson 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 architecture distinguishes systemic juvenile idiopathic arthritis from other forms of juvenile idiopathic arthritis: clinical and therapeutic implications. | Ombrello MJ et al. | β | 2017 | β |
| Genetic association with B-cell acute lymphoblastic leukemia in allogeneic transplant patients differs by age and sex. | Clay-Gilmour AI 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 effects on gene expression across human tissues. | GTEx Consortium et al. | β | 2017 | β |
| Genetic variants associated with type 2 diabetes and adiposity and risk of intracranial and abdominal aortic aneurysms. | van 't Hof FN et al. | β | 2017 | β |
| Genetic variants influencing elevated myeloperoxidase levels increase risk of stroke. | Phuah CL et al. | β | 2017 | β |
| Genetic variation associated with cardiovascular risk in autoimmune diseases. | Perrotti PP et al. | β | 2017 | β |
| Genome-wide analysis in UK Biobank identifies four loci associated with mood instability and genetic correlation with major depressive disorder, anxiety disorder and schizophrenia. | Ward J 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 of white blood cell counts in Hispanic/Latino Americans: the Hispanic Community Health Study/Study of Latinos. | Jain D et al. | β | 2017 | β |
| Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. | Agopian AJ et al. | β | 2017 | β |
| Genome-wide association studies of cancer: current insights and future perspectives. | Sud A et al. | β | 2017 | β |
| Genome Wide Association Study (GWAS) between Attention Deficit Hyperactivity Disorder (ADHD) and Obsessive Compulsive Disorder (OCD). | Ritter ML et al. | β | 2017 | β |
| Genome-wide association study of borderline personality disorder reveals genetic overlap with bipolar disorder, major depression and schizophrenia. | Witt SH et al. | β | 2017 | β |
| Genome-wide association study of facial morphology reveals novel associations with FREM1 and PARK2. | Lee MK et al. | β | 2017 | β |
| Genome-wide association study of generalized anxiety symptoms in the Hispanic Community Health Study/Study of Latinos. | Dunn EC et al. | β | 2017 | β |
| Genome-wide association study of heart rate and its variability in Hispanic/Latino cohorts. | Kerr KF 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 gene by lead exposure interaction analysis identifies UNC5D as a candidate gene for neurodevelopment. | Wang Z et al. | β | 2017 | β |
| Genome-wide minor histocompatibility matching as related to the risk of graft-versus-host disease. | Martin PJ et al. | β | 2017 | β |
| Genome-wide scan in Hispanics highlights candidate loci for brain white matter hyperintensities. | Beecham A et al. | β | 2017 | β |
| Genotype imputation in a tropical crossbred dairy cattle population. | Oliveira JΓΊnior GA et al. | β | 2017 | β |
| GWAS of the electrocardiographic QT interval in Hispanics/Latinos generalizes previously identified loci and identifies population-specific signals. | MΓ©ndez-GirΓ‘ldez R et al. | β | 2017 | β |
| Identification and characterization of two functional variants in the human longevity gene FOXO3. | Flachsbart F et al. | β | 2017 | β |
| Identification of 153 new loci associated with heel bone mineral density and functional involvement of GPC6 in osteoporosis. | Kemp JP et al. | β | 2017 | β |
| Identification of Genetic Interaction with Risk Factors Using a Time-To-Event Model. | de Andrade M et al. | β | 2017 | β |
| Identification of rare nonsynonymous variants in SYNE1/CPG2 in bipolar affective disorder. | Sharp SI et al. | β | 2017 | β |
| Identification of the functional variant driving ORMDL3 and GSDMB expression in human chromosome 17q12-21 in primary biliary cholangitis. | Hitomi Y et al. | β | 2017 | β |
| Identification of unique venous thromboembolism-susceptibility variants in African-Americans. | Heit JA 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 |
| Imputation approach for deducing a complete mitogenome sequence from low-depth-coverage next-generation sequencing data: application to ancient remains from the Moon Pyramid, Mexico. | Mizuno F et al. | β | 2017 | β |
| Inclusion of Population-specific Reference Panel from India to the 1000 Genomes Phase 3 Panel Improves Imputation Accuracy. | Ahmad M 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 |
| Integrating Sequence-based GWAS and RNA-Seq Provides Novel Insights into the Genetic Basis of Mastitis and Milk Production in Dairy Cattle. | Fang L 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 |
| Multimodal Brain Imaging Reveals Structural Differences in Alzheimer's Disease Polygenic Risk Carriers: A Study in Healthy Young Adults. | Foley SF et al. | β | 2017 | β |
| Necroptosis activation in Alzheimer's disease. | Caccamo A et al. | β | 2017 | β |
| Parkinson disease polygenic risk score is associated with Parkinson disease status and age at onset but not with alpha-synuclein cerebrospinal fluid levels. | Ibanez L et al. | β | 2017 | β |
| Phenome-wide association study for CYP2A6 alleles: rs113288603 is associated with hearing loss symptoms in elderly smokers. | Polimanti R et al. | β | 2017 | β |
| Polygenic risk score and heritability estimates reveals a genetic relationship between ASD and OCD. | Guo W 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 |
| Reevaluation of SNP heritability in complex human traits. | Speed D et al. | β | 2017 | β |
| Regulatory element-based prediction identifies new susceptibility regulatory variants for osteoporosis. | Yao S et al. | β | 2017 | β |
| Resistance to malaria through structural variation of red blood cell invasion receptors. | Leffler EM et al. | β | 2017 | β |
| Role of DNA Methylation in Type 2 Diabetes Etiology: Using Genotype as a Causal Anchor. | Elliott HR et al. | β | 2017 | β |
| Securing the use of existing sample collections for future human genetic research. | Kanoungi G et al. | β | 2017 | β |
| The Oxytocin Receptor Gene ( OXTR) and Face Recognition. | Verhallen RJ et al. | β | 2017 | β |
| The utility of empirically assigning ancestry groups in cross-population genetic studies of addiction. | Peterson RE et al. | β | 2017 | β |
| Two genetic loci associated with ankle injury. | Kim SK et al. | β | 2017 | β |
| Use of biological priors enhances understanding of genetic architecture and genomic prediction of complex traits within and between dairy cattle breeds. | Fang L 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 Cross-Cancer Genetic Association Analysis of the DNA Repair and DNA Damage Signaling Pathways for Lung, Ovary, Prostate, Breast, and Colorectal Cancer. | Scarbrough PM et al. | β | 2016 | β |
| A Functional Genomics Approach to Understand Variation in Cytokine Production in Humans. | Li Y et al. | β | 2016 | β |
| A genome-wide association study of congenital cardiovascular left-sided lesions shows association with a locus on chromosome 20. | Hanchard NA 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 |
| A Locus at 5q33.3 Confers Resistance to Tuberculosis in Highly Susceptible Individuals. | Sobota RS et al. | β | 2016 | β |
| A longitudinal genome-wide association study of anti-tumor necrosis factor response among Japanese patients with rheumatoid arthritis. | Honne K et al. | β | 2016 | β |
| A loss of function variant in CASP7 protects against Alzheimer's disease in homozygous APOE Ξ΅4 allele carriers. | Ayers KL et al. | β | 2016 | β |
| An accurate clone-based haplotyping method by overlapping pool sequencing. | Li C et al. | β | 2016 | β |
| A single endoplasmic reticulum aminopeptidase-1 protein allotype is a strong risk factor for BehΓ§et's disease in HLA-B*51 carriers. | Takeuchi M et al. | β | 2016 | β |
| A splicing variant of TERT identified by GWAS interacts with menopausal estrogen therapy in risk of ovarian cancer. | Lee AW et al. | β | 2016 | β |
| Assessment of the genetic variance of late-onset Alzheimer's disease. | Ridge PG et al. | β | 2016 | β |
| Association analysis for feet and legs disorders with whole-genome sequence variants in 3 dairy cattle breeds. | Wu X et al. | β | 2016 | β |
| Association analysis of the beta-3 adrenergic receptor Trp64Arg (rs4994) polymorphism with urate and gout. | Fatima T et al. | β | 2016 | β |
| Association of HLA class I and II genes with cutaneous leishmaniasis: a case control study from Sri Lanka and a systematic review. | Samaranayake N et al. | β | 2016 | β |
| Association of host genome with intestinal microbial composition in a large healthy cohort. | Turpin W et al. | β | 2016 | β |
| Atlas of prostate cancer heritability in European and African-American men pinpoints tissue-specific regulation. | Gusev A et al. | β | 2016 | β |
| Common alleles contribute to schizophrenia in CNV carriers. | Tansey KE et al. | β | 2016 | β |
| Common coding variants in the HLA-DQB1 region confer susceptibility to age-related macular degeneration. | Jorgenson E et al. | β | 2016 | β |
| Common genetic variation associated with increased susceptibility to prostate cancer does not increase risk of radiotherapy toxicity. | Ahmed M et al. | β | 2016 | β |
| Common Variants Confer Susceptibility to Barrett's Esophagus: Insights from the First Genome-Wide Association Studies. | Palles C et al. | β | 2016 | β |
| Comparing performance of modern genotype imputation methods in different ethnicities. | Roshyara NR et al. | β | 2016 | β |
| CYP19A1 fine-mapping and Mendelian randomization: estradiol is causal for endometrial cancer. | Thompson DJ et al. | β | 2016 | β |
| Diabetes Pathology and Risk of Primary Open-Angle Glaucoma: Evaluating Causal Mechanisms by Using Genetic Information. | Shen L et al. | β | 2016 | β |
| Discovering Genome-Wide Tag SNPs Based on the Mutual Information of the Variants. | Elmas A et al. | β | 2016 | β |
| Efficient Strategy to Identify Gene-Gene Interactions and Its Application to Type 2 Diabetes. | Li D et al. | β | 2016 | β |
| EigenGWAS: finding loci under selection through genome-wide association studies of eigenvectors in structured populations. | Chen GB et al. | β | 2016 | β |
| Embracing Integrative Multiomics Approaches. | Rotroff DM et al. | β | 2016 | β |
| Estimating the Ages of Selection Signals from Different Epochs in Human History. | Nakagome S et al. | β | 2016 | β |
| Evaluating Imputation Algorithms for Low-Depth Genotyping-By-Sequencing (GBS) Data. | Chan AW et al. | β | 2016 | β |
| Evaluation of transethnic fine mapping with population-specific and cosmopolitan imputation reference panels in diverse Asian populations. | Wang X et al. | β | 2016 | β |
| Evidence for contribution of common genetic variants within chromosome 8p21.2-8p21.1 to restricted and repetitive behaviors in autism spectrum disorders. | Tao Y et al. | β | 2016 | β |
| Evidence of a genetic link between endometriosis and ovarian cancer. | Lee AW 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 |
| Fine-mapping of two differentiated thyroid carcinoma susceptibility loci at 9q22.33 and 14q13.3 detects novel candidate functional SNPs in Europeans from metropolitan France and Melanesians from New Caledonia. | Tcheandjieu C et al. | β | 2016 | β |
| Fine scale mapping of the 17q22 breast cancer locus using dense SNPs, genotyped within the Collaborative Oncological Gene-Environment Study (COGs). | Darabi H et al. | β | 2016 | β |
| Five endometrial cancer risk loci identified through genome-wide association analysis. | Cheng TH et al. | β | 2016 | β |
| Functional and Genomic Architecture of Borrelia burgdorferi-Induced Cytokine Responses in Humans. | Oosting M et al. | β | 2016 | β |
| Genetic Complexity of Crohn's Disease in Two Large Ashkenazi Jewish Families. | Levine AP et al. | β | 2016 | β |
| Genetic determinants of warfarin maintenance dose and time in therapeutic treatment range: a RE-LY genomics substudy. | Eriksson N et al. | β | 2016 | β |
| Genetic Diversity and Association Studies in US Hispanic/Latino Populations: Applications in the Hispanic Community Health Study/Study of Latinos. | Conomos MP et al. | β | 2016 | β |
| Genetic Predictors of Cardiovascular Mortality During Intensive Glycemic Control in Type 2 Diabetes: Findings From the ACCORD Clinical Trial. | Shah HS et al. | β | 2016 | β |
| Genetic variants in CETP increase risk of intracerebral hemorrhage. | Anderson CD et al. | β | 2016 | β |
| Genome-wide analysis of over 106β000 individuals identifies 9 neuroticism-associated loci. | Smith DJ et al. | β | 2016 | β |
| Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis. | van Rheenen W et al. | β | 2016 | β |
| Genome-wide association reveals that common genetic variation in the kallikrein-kinin system is associated with serum L-arginine levels. | Zhang W et al. | β | 2016 | β |
| Genome-wide association study identifies SESTD1 as a novel risk gene for lithium-responsive bipolar disorder. | Song J et al. | β | 2016 | β |
| Genome-wide Association Study of Platelet Count Identifies Ancestry-Specific Loci in Hispanic/Latino Americans. | Schick UM et al. | β | 2016 | β |
| Genome-wide association study of serum coenzyme Q10 levels identifies susceptibility loci linked to neuronal diseases. | Degenhardt F et al. | β | 2016 | β |
| Genome-Wide Association Study Reveals Multiple Loci Influencing Normal Human Facial Morphology. | Shaffer JR et al. | β | 2016 | β |
| Genome-wide imputation study identifies novel HLA locus for pulmonary fibrosis and potential role for auto-immunity in fibrotic idiopathic interstitial pneumonia. | Fingerlin TE et al. | β | 2016 | β |
| Genotype Imputation with Millions of Reference Samples. | Browning BL et al. | β | 2016 | β |
| Identification of independent association signals and putative functional variants for breast cancer risk through fine-scale mapping of the 12p11 locus. | Zeng C et al. | β | 2016 | β |
| Identification of IRX1 as a Risk Locus for Rheumatoid Factor Positivity in Rheumatoid Arthritis in a Genome-Wide Association Study. | JuliΓ A 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 |
| Immunophenotyping of rheumatoid arthritis reveals a linkage between HLA-DRB1 genotype, CXCR4 expression on memory CD4(+) T cells, and disease activity. | Nagafuchi Y et al. | β | 2016 | β |
| Impact of polygenic schizophrenia-related risk and hippocampal volumes on the onset of psychosis. | Harrisberger F et al. | β | 2016 | β |
| Improved imputation accuracy in Hispanic/Latino populations with larger and more diverse reference panels: applications in the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). | Nelson SC et al. | β | 2016 | β |
| Increased genetic risk for obesity in premature coronary artery disease. | Cole CB et al. | β | 2016 | β |
| Interaction of Insulin Resistance and Related Genetic Variants With Triglyceride-Associated Genetic Variants. | Klimentidis YC et al. | β | 2016 | β |
| Inter-individual variability and genetic influences on cytokine responses to bacteria and fungi. | Li Y et al. | β | 2016 | β |
| KAT2B polymorphism identified for drug abuse in African Americans with regulatory links to drug abuse pathways in human prefrontal cortex. | Johnson EO et al. | β | 2016 | β |
| Leveraging Genomic Annotations and Pleiotropic Enrichment for Improved Replication Rates in Schizophrenia GWAS. | Wang Y et al. | β | 2016 | β |
| Meta-analysis of Positive and Negative Symptoms Reveals Schizophrenia Modifier Genes. | Edwards AC et al. | β | 2016 | β |
| Modeling disease risk through analysis of physical interactions between genetic variants within chromatin regulatory circuitry. | Corradin O et al. | β | 2016 | β |
| Natural resistance to Meningococcal Disease related to CFH loci: Meta-analysis of genome-wide association studies. | MartinΓ³n-Torres F 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 |
| Novel genetic predictors of venous thromboembolism risk in African Americans. | Hernandez W et al. | β | 2016 | β |
| Novel genetic risk factors for asthma in African American children: Precision Medicine and the SAGE II Study. | White MJ et al. | β | 2016 | β |
| Novel susceptibility gene for nonfamilial hypokalemic periodic paralysis. | Song IW et al. | β | 2016 | β |
| Patients with a High Polygenic Risk of Breast Cancer do not have An Increased Risk of Radiotherapy Toxicity. | Dorling L et al. | β | 2016 | β |
| Phenome-Wide Association Study for Alcohol and Nicotine Risk Alleles in 26394 Women. | Polimanti R et al. | β | 2016 | β |
| Polygenic risk for type 2 diabetes mellitus among individuals with psychosis and their relatives. | Padmanabhan JL et al. | β | 2016 | β |
| Rationale and Design of the Genetic Contribution to Drug Induced Renal InjuryΒ (DIRECT) Study. | Awdishu L et al. | β | 2016 | β |
| Relation between Established Glioma Risk Variants and DNA Methylation in the Tumor. | Dahlin AM et al. | β | 2016 | β |
| Replication of association of the apolipoprotein A1-C3-A4 gene cluster with the risk of gout. | Rasheed H et al. | β | 2016 | β |
| Serum urate gene associations with incident gout, measured in the Framingham Heart Study, are modified by renal disease and not by body mass index. | Reynolds RJ et al. | β | 2016 | β |
| Shared genetic control of expression and methylation in peripheral blood. | Shakhbazov K et al. | β | 2016 | β |
| Shared Genetic Risk Factors of Intracranial, Abdominal, and Thoracic Aneurysms. | van 't Hof FN et al. | β | 2016 | β |
| Short communication: Multi-trait estimation of genetic parameters for milk protein composition in the Danish Holstein. | Gebreyesus G et al. | β | 2016 | β |
| SNPs in transporter and metabolizing genes as predictive markers for oxaliplatin treatment in colorectal cancer patients. | Kap EJ et al. | β | 2016 | β |
| Tensor decomposition for multiple-tissue gene expression experiments. | Hore V et al. | β | 2016 | β |
| The Allelic Landscape of Human Blood Cell Trait Variation and Links to Common Complex Disease. | Astle WJ et al. | β | 2016 | β |
| The effect of host genetics on the gut microbiome. | Bonder MJ et al. | β | 2016 | β |
| The Relationship between Common Genetic Markers of Breast Cancer Risk and Chemotherapy-Induced Toxicity: A Case-Control Study. | Dorling L et al. | β | 2016 | β |
| Three new pancreatic cancer susceptibility signals identified on chromosomes 1q32.1, 5p15.33 and 8q24.21. | Zhang M et al. | β | 2016 | β |
| Tracing the origin of disseminated tumor cells in breast cancer using single-cell sequencing. | Demeulemeester J et al. | β | 2016 | β |
| Variants near CHRNA3/5 and APOE have age- and sex-related effects on human lifespan. | Joshi PK et al. | β | 2016 | β |
| Very low-depth sequencing in a founder population identifies a cardioprotective APOC3 signal missed by genome-wide imputation. | Gilly A et al. | β | 2016 | β |
| A genome-wide association study identifies four novel susceptibility loci underlying inguinal hernia. | Jorgenson E et al. | β | 2015 | β |
| A genome-wide association study of chronic obstructive pulmonary disease in Hispanics. | Chen W et al. | β | 2015 | β |
| A GWAS Study on Liver Function Test Using eMERGE Network Participants. | Namjou B et al. | β | 2015 | β |
| A kinetic model-based algorithm to classify NGS short reads by their allele origin. | Marinoni A et al. | β | 2015 | β |
| A large multiethnic genome-wide association study of prostate cancer identifies novel risk variants and substantial ethnic differences. | Hoffmann TJ et al. | β | 2015 | β |
| A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence. | Hancock DB et al. | β | 2015 | β |
| A population study of binocular function. | Bosten JM et al. | β | 2015 | β |
| ARHGEF12 influences the risk of glaucoma by increasing intraocular pressure. | Springelkamp H et al. | β | 2015 | β |
| A spatial haplotype copying model with applications to genotype imputation. | Yang WY et al. | β | 2015 | β |
| Assessing associations between the AURKA-HMMR-TPX2-TUBG1 functional module and breast cancer risk in BRCA1/2 mutation carriers. | Blanco I et al. | β | 2015 | β |
| Assessment of whole-genome regression for type II diabetes. | Vazquez AI et al. | β | 2015 | β |
| Association analyses identify 38 susceptibility loci for inflammatory bowel disease and highlight shared genetic risk across populations. | Liu JZ et al. | β | 2015 | β |
| Association between genetic risk scoring for schizophrenia and bipolar disorder with regional subcortical volumes. | Caseras X et al. | β | 2015 | β |
| Association of ARNTL and PER1 genes with Parkinson's disease: a case-control study of Han Chinese. | Gu Z et al. | β | 2015 | β |
| Association of Organic Cation Transporter 1 With Intolerance to Metformin in Type 2 Diabetes: A GoDARTS Study. | Dujic T et al. | β | 2015 | β |
| Associations of common variants in the BST2 region with HIV-1 acquisition in African American and European American people who inject drugs. | Hancock DB et al. | β | 2015 | β |
| Big data challenges in bone research: genome-wide association studies and next-generation sequencing. | Alonso N et al. | β | 2015 | β |
| C9orf72 hexanucleotide repeat expansions in Chinese sporadic amyotrophic lateral sclerosis. | He J et al. | β | 2015 | β |
| Calling genotypes from public RNA-sequencing data enables identification of genetic variants that affect gene-expression levels. | Deelen P et al. | β | 2015 | β |
| Challenges in conducting genome-wide association studies in highly admixed multi-ethnic populations: the Generation R Study. | Medina-Gomez C et al. | β | 2015 | β |
| Cis-Expression Quantitative Trait Loci Mapping Reveals Replicable Associations with Heroin Addiction in OPRM1. | Hancock DB et al. | β | 2015 | β |
| Cohort profile: LifeLines DEEP, a prospective, general population cohort study in the northern Netherlands: study design and baseline characteristics. | Tigchelaar EF et al. | β | 2015 | β |
| Comparison among three variant callers and assessment of the accuracy of imputation from SNP array data to whole-genome sequence level in chicken. | Ni G et al. | β | 2015 | β |
| Concept and design of a genome-wide association genotyping array tailored for transplantation-specific studies. | Li YR et al. | β | 2015 | β |
| Cross Cancer Genomic Investigation of Inflammation Pathway for Five Common Cancers: Lung, Ovary, Prostate, Breast, and Colorectal Cancer. | Hung RJ et al. | β | 2015 | β |
| Differences in the Genetic Susceptibility to Age-Related Macular Degeneration Clinical Subtypes. | Shen L et al. | β | 2015 | β |
| Discovery of six new susceptibility loci and analysis of pleiotropic effects in leprosy. | Liu H et al. | β | 2015 | β |
| DISTMIX: direct imputation of summary statistics for unmeasured SNPs from mixed ethnicity cohorts. | Lee D et al. | β | 2015 | β |
| Effect of Genetic African Ancestry on eGFR and Kidney Disease. | Udler MS et al. | β | 2015 | β |
| Evaluating the ovarian cancer gonadotropin hypothesis: a candidate gene study. | Lee AW et al. | β | 2015 | β |
| Evaluation of polygenic cause in Korean patients with familial hypercholesterolemia - A study supported by Korean Society of Lipidology and Atherosclerosis. | Kwon M et al. | β | 2015 | β |
| Fast imputation using medium or low-coverage sequence data. | VanRaden PM et al. | β | 2015 | β |
| Fine-mapping of the HNF1B multicancer locus identifies candidate variants that mediate endometrial cancer risk. | Painter JN et al. | β | 2015 | β |
| First genome-wide association study in an Australian aboriginal population provides insights into genetic risk factors for body mass index and type 2 diabetes. | Anderson D et al. | β | 2015 | β |
| Functional enrichment analysis of three Alzheimer's disease genome-wide association studies identities DAB1 as a novel candidate liability/protective gene. | Gao H et al. | β | 2015 | β |
| Genetic Basis of Common Human Disease: Insight into the Role of Missense SNPs from Genome-Wide Association Studies. | Pal LR et al. | β | 2015 | β |
| Genetic Determinants of Pelvic Organ Prolapse among African American and Hispanic Women in the Women's Health Initiative. | Giri A et al. | β | 2015 | β |
| Genetic Variants on Chromosome 1p13.3 Are Associated with Non-ST Elevation Myocardial Infarction and the Expression of DRAM2 in the Finnish Population. | Salo PP et al. | β | 2015 | β |
| GenoExp: a web tool for predicting gene expression levels from single nucleotide polymorphisms. | Manor O et al. | β | 2015 | β |
| Genomewide association analyses of electrophysiological endophenotypes for schizophrenia and psychotic bipolar disorders: a preliminary report. | Hall MH et al. | β | 2015 | β |
| Genome-wide association study identifies ABCG2 (BCRP) as an allopurinol transporter and a determinant of drug response. | Wen CC et al. | β | 2015 | β |
| Genome-wide association study of colorectal cancer identifies six new susceptibility loci. | Schumacher FR et al. | β | 2015 | β |
| Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy. | Kouri N et al. | β | 2015 | β |
| Genome-wide association study of IgG1 responses to the choline-binding protein PspC of Streptococcus pneumoniae. | Anderson D et al. | β | 2015 | β |
| Genome-wide association study of schizophrenia in Ashkenazi Jews. | Goes FS et al. | β | 2015 | β |
| Genome-Wide Gene by Environment Interaction Analysis Identifies Common SNPs at 17q21.2 that Are Associated with Increased Body Mass Index Only among Asthmatics. | Wang L et al. | β | 2015 | β |
| Genome-wide meta-analysis reveals common splice site acceptor variant in CHRNA4 associated with nicotine dependence. | Hancock DB et al. | β | 2015 | β |
| Haplotype-based approach to known MS-associated regions increases the amount of explained risk. | Khankhanian P et al. | β | 2015 | β |
| Identification and characterization of novel associations in the CASP8/ALS2CR12 region on chromosome 2 with breast cancer risk. | Lin WY et al. | β | 2015 | β |
| Identification of new susceptibility loci for IgA nephropathy in Han Chinese. | Li M et al. | β | 2015 | β |
| Identification of novel genetic markers of breast cancer survival. | Guo Q et al. | β | 2015 | β |
| Identification of risk loci for Crohn's disease phenotypes using a genome-wide association study. | Alonso A et al. | β | 2015 | β |
| Identifying Highly Penetrant Disease Causal Mutations Using Next Generation Sequencing: Guide to Whole Process. | Erzurumluoglu AM et al. | β | 2015 | β |
| Immunogenetics of rheumatoid arthritis: Understanding functional implications. | Messemaker TC et al. | β | 2015 | β |
| Impact of genetic similarity on imputation accuracy. | Roshyara NR et al. | β | 2015 | β |
| Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. | Huang J et al. | β | 2015 | β |
| Improving Phenotypic Prediction by Combining Genetic and Epigenetic Associations. | Shah S et al. | β | 2015 | β |
| Imputation-based population genetics analysis of Plasmodium falciparum malaria parasites. | Samad H et al. | β | 2015 | β |
| Imputation of genotypes in Danish purebred and two-way crossbred pigs using low-density panels. | Xiang T et al. | β | 2015 | β |
| Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. | Hoffmann TJ et al. | β | 2015 | β |
| Integrated genomic and BMI analysis for type 2 diabetes risk assessment. | LebrΓ³n-Aldea D et al. | β | 2015 | β |
| Ischemic Stroke: From Next Generation Sequencing and GWAS to Community Genomics? | Black M et al. | β | 2015 | β |
| Japonica array: improved genotype imputation by designing a population-specific SNP array with 1070 Japanese individuals. | Kawai Y et al. | β | 2015 | β |
| Lifetime Socioeconomic Status, Historical Context, and Genetic Inheritance in Shaping Body Mass in Middle and Late Adulthood. | Liu H et al. | β | 2015 | β |
| Meta-analysis of genome-wide association studies identifies common susceptibility polymorphisms for colorectal and endometrial cancer near SH2B3 and TSHZ1. | Cheng TH et al. | β | 2015 | β |
| Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. | Li YR et al. | β | 2015 | β |
| Multilevel-analysis identify a cis-expression quantitative trait locus associated with risk of renal cell carcinoma. | Shu X et al. | β | 2015 | β |
| Novel genetic locus implicated for HIV-1 acquisition with putative regulatory links to HIV replication and infectivity: a genome-wide association study. | Johnson EO et al. | β | 2015 | β |
| Pathway analysis supports association of nonsyndromic cryptorchidism with genetic loci linked to cytoskeleton-dependent functions. | Barthold JS et al. | β | 2015 | β |
| Performance of genotype imputation for low frequency and rare variants from the 1000 genomes. | Zheng HF et al. | β | 2015 | β |
| Pharmacogenomic determinants of the cardiovascular effects of dalcetrapib. | Tardif JC et al. | β | 2015 | β |
| Phenotype specific association of the TGFBR3 locus with nonsyndromic cryptorchidism. | Barthold JS et al. | β | 2015 | β |
| Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. | Darabi H et al. | β | 2015 | β |
| Population genetic differentiation of height and body mass index across Europe. | Robinson MR et al. | β | 2015 | β |
| Prostate genetic score (PGS-33) is independently associated with risk of prostate cancer in the PLCO trial. | Liss MA et al. | β | 2015 | β |
| PXK locus in systemic lupus erythematosus: fine mapping and functional analysis reveals novel susceptibility gene ABHD6. | Oparina NY et al. | β | 2015 | β |
| Quantitative trait loci markers derived from whole genome sequence data increases the reliability of genomic prediction. | BrΓΈndum RF et al. | β | 2015 | β |
| Relatedness in the post-genomic era: is it still useful? | Speed D et al. | β | 2015 | β |
| Scanning and Filling: Ultra-Dense SNP Genotyping Combining Genotyping-By-Sequencing, SNP Array and Whole-Genome Resequencing Data. | Torkamaneh D et al. | β | 2015 | β |
| Short communication: Use of genomic and metabolic information as well as milk performance records for prediction of subclinical ketosis risk via artificial neural networks. | Ehret A et al. | β | 2015 | β |
| Strategies for Imputing and Analyzing Rare Variants in Association Studies. | Hoffmann TJ et al. | β | 2015 | β |
| Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. | Curtis J et al. | β | 2015 | β |
| Systematic assessment of imputation performance using the 1000 Genomes reference panels. | Liu Q et al. | β | 2015 | β |
| Triglyceride-Increasing Alleles Associated with Protection against Type-2 Diabetes. | Klimentidis YC et al. | β | 2015 | β |
| Unravelling adverse reactions to NSAIDs using systems biology. | Perkins JR et al. | β | 2015 | β |
| Variations in the FRA10AC1 Fragile Site and 15q21 Are Associated with Cerebrospinal Fluid AΞ²1-42 Level. | Li QS et al. | β | 2015 | β |
| When Does Choice of Accuracy Measure Alter Imputation Accuracy Assessments? | Ramnarine S et al. | β | 2015 | β |
| Accuracy of genome-wide imputation in Braford and Hereford beef cattle. | Piccoli ML et al. | β | 2014 | β |
| Accuracy of imputation to whole-genome sequence data in Holstein Friesian cattle. | van Binsbergen R et al. | β | 2014 | β |
| Admixture mapping identifies a locus at 15q21.2-22.3 associated with keloid formation in African Americans. | Velez Edwards DR et al. | β | 2014 | β |
| A general efficient and flexible approach for genome-wide association analyses of imputed genotypes in family-based designs. | Cobat A et al. | β | 2014 | β |
| A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. | BΓΈnnelykke K et al. | β | 2014 | β |
| Amerindian-specific regions under positive selection harbour new lipid variants in Latinos. | Ko A et al. | β | 2014 | β |
| A new approach for efficient genotype imputation using information from relatives. | Sargolzaei M et al. | β | 2014 | β |
| An online version of the Mooney Face Test: phenotypic and genetic associations. | Verhallen RJ et al. | β | 2014 | β |
| Assessing multivariate gene-metabolome associations with rare variants using Bayesian reduced rank regression. | Marttinen P et al. | β | 2014 | β |
| Association of physical activity with lower type 2 diabetes incidence is weaker among individuals at high genetic risk. | Klimentidis YC et al. | β | 2014 | β |
| A three-stage genome-wide association study identifies a susceptibility locus for late radiotherapy toxicity at 2q24.1. | Fachal L et al. | β | 2014 | β |
| Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. | Giambartolomei C et al. | β | 2014 | β |
| BehΓ§et disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity. | Ombrello MJ et al. | β | 2014 | β |
| Biological insights from 108 schizophrenia-associated genetic loci. | Schizophrenia Working Group of the Psychiatric Genomics Consortium | β | 2014 | β |
| Chip-based direct genotyping of coding variants in genome wide association studies: utility, issues and prospects. | Nievergelt CM et al. | β | 2014 | β |
| Chromosome X-wide association study identifies Loci for fasting insulin and height and evidence for incomplete dosage compensation. | Tukiainen T et al. | β | 2014 | β |
| Contribution of genetic variation to transgenerational inheritance of DNA methylation. | McRae AF et al. | β | 2014 | β |
| Controlling for population structure and genotyping platform bias in the eMERGE multi-institutional biobank linked to electronic health records. | Crosslin DR et al. | β | 2014 | β |
| Current concepts and clinical applications of stroke genetics. | Falcone GJ et al. | β | 2014 | β |
| Describing the genetic architecture of epilepsy through heritability analysis. | Speed D et al. | β | 2014 | β |
| Dissecting the causal genetic mechanisms of coronary heart disease. | Miller CL et al. | β | 2014 | β |
| Evaluating the coverage and potential of imputing the exome microarray with next-generation imputation using the 1000 Genomes Project. | Tantoso E et al. | β | 2014 | β |
| Evidence for the role of EPHX2 gene variants in anorexia nervosa. | Scott-Van Zeeland AA et al. | β | 2014 | β |
| Fine-mapping the HOXB region detects common variants tagging a rare coding allele: evidence for synthetic association in prostate cancer. | Saunders EJ et al. | β | 2014 | β |
| Gene-based rare allele analysis identified a risk gene of Alzheimer's disease. | Kim JH et al. | β | 2014 | β |
| Genetic and environmental exposures constrain epigenetic drift over the human life course. | Shah S et al. | β | 2014 | β |
| Genetic association of the tachykinin receptor 1 TACR1 gene in bipolar disorder, attention deficit hyperactivity disorder, and the alcohol dependence syndrome. | Sharp SI et al. | β | 2014 | β |
| Genetics, genomics, and their relevance to pathology and therapy. | Ombrello MJ et al. | β | 2014 | β |
| Genetic variants in transcription factors are associated with the pharmacokinetics and pharmacodynamics of metformin. | Goswami S et al. | β | 2014 | β |
| Genome-wide association analysis of Vogt-Koyanagi-Harada syndrome identifies two new susceptibility loci at 1p31.2 and 10q21.3. | Hou S et al. | β | 2014 | β |
| Genome-wide association study and admixture mapping identify different asthma-associated loci in Latinos: the Genes-environments & Admixture in Latino Americans study. | Galanter JM et al. | β | 2014 | β |
| Genome-wide association study identifies variants in casein kinase II (CSNK2A2) to be associated with leukocyte telomere length in a Punjabi Sikh diabetic cohort. | Saxena R et al. | β | 2014 | β |
| Genome-wide study of percent emphysema on computed tomography in the general population. The Multi-Ethnic Study of Atherosclerosis Lung/SNP Health Association Resource Study. | Manichaikul A et al. | β | 2014 | β |
| Genotype imputation accuracy with different reference panels in admixed populations. | Huang GH et al. | β | 2014 | β |
| Harmonization of study and reference data by PhaseLift: saving time when imputing study data. | Gorski M et al. | β | 2014 | β |
| Hormone metabolism pathway genes and mammographic density change after quitting estrogen and progestin combined hormone therapy in the California Teachers Study. | Lee E et al. | β | 2014 | β |
| Identification of allelic heterogeneity at type-2 diabetes loci and impact on prediction. | Klimentidis YC et al. | β | 2014 | β |
| Impact of reference population on accuracy of imputation from 6K to 50K single nucleotide polymorphism chips in purebred and crossbreed beef cattle. | Ventura RV et al. | β | 2014 | β |
| Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'. | Deelen P et al. | β | 2014 | β |
| Imputation and quality control steps for combining multiple genome-wide datasets. | Verma SS et al. | β | 2014 | β |
| Imputation-based assessment of next generation rare exome variant arrays. | Martin AR et al. | β | 2014 | β |
| Individual differences provide psychophysical evidence for separate on- and off-pathways deriving from short-wave cones. | Bosten JM et al. | β | 2014 | β |
| Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel. | Delaneau O et al. | β | 2014 | β |
| Lupus risk variants in the PXK locus alter B-cell receptor internalization. | Vaughn SE et al. | β | 2014 | β |
| Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT). | Lencz T et al. | β | 2014 | β |
| Molecular validation of the schizophrenia spectrum. | Bigdeli TB et al. | β | 2014 | β |
| MultiBLUP: improved SNP-based prediction for complex traits. | Speed D et al. | β | 2014 | β |
| On the association of common and rare genetic variation influencing body mass index: a combined SNP and CNV analysis. | Peterson RE et al. | β | 2014 | β |
| Phenome-wide association study (PheWAS) in EMR-linked pediatric cohorts, genetically links PLCL1 to speech language development and IL5-IL13 to Eosinophilic Esophagitis. | Namjou B et al. | β | 2014 | β |
| Predicting HLA alleles from high-resolution SNP data in three Southeast Asian populations. | Pillai NE et al. | β | 2014 | β |
| Predicting HLA genotypes using unphased and flanking single-nucleotide polymorphisms in Han Chinese population. | Hsieh AR et al. | β | 2014 | β |
| Refinement of the MHC risk map in a scandinavian primary sclerosing cholangitis population. | NΓ¦ss S et al. | β | 2014 | β |
| Replication of genetic polymorphisms reported to be associated with taxane-related sensory neuropathy in patients with early breast cancer treated with Paclitaxel. | Abraham JE et al. | β | 2014 | β |
| Single nucleotide polymorphism (SNP)-strings: an alternative method for assessing genetic associations. | Goodin DS et al. | β | 2014 | β |
| Strategies for imputation to whole genome sequence using a single or multi-breed reference population in cattle. | BrΓΈndum RF et al. | β | 2014 | β |
| TASSEL-GBS: a high capacity genotyping by sequencing analysis pipeline. | Glaubitz JC et al. | β | 2014 | β |
| The correlation between reading and mathematics ability at age twelve has a substantial genetic component. | Davis OS et al. | β | 2014 | β |
| The rare TREM2 R47H variant exerts only a modest effect on Alzheimer disease risk. | Hooli BV et al. | β | 2014 | β |
| The Ξ±3Ξ²4* nicotinic ACh receptor subtype mediates physical dependence to morphine: mouse and human studies. | Muldoon PP et al. | β | 2014 | β |
| Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. | Li YR et al. | β | 2014 | β |
| Validation of imputation between equine genotyping arrays. | McCoy AM et al. | β | 2014 | β |
| Variants in the 1q21 risk region are associated with a visual endophenotype of autism and schizophrenia. | Goodbourn PT et al. | β | 2014 | β |
| Whole-exome imputation of sequence variants identified two novel alleles associated with adult body height in African Americans. | Du M et al. | β | 2014 | β |
| Whole-genome sequence variation, population structure and demographic history of the Dutch population. | Genome of the Netherlands Consortium | β | 2014 | β |
| A bivariate mann-whitney approach for unraveling genetic variants and interactions contributing to comorbidity. | Wen Y et al. | β | 2013 | β |
| A comprehensive SNP and indel imputability database. | Duan Q et al. | β | 2013 | β |
| Adiponectin pathway polymorphisms and risk of breast cancer in African Americans and Hispanics in the Women's Health Initiative. | Kaklamani VG et al. | β | 2013 | β |
| Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. | International Multiple Sclerosis Genetics Consortium (IMSGC) et al. | β | 2013 | β |
| A sequence of methodological changes due to sequencing. | Burkett K et al. | β | 2013 | β |
| Associations of ATR and CHEK1 single nucleotide polymorphisms with breast cancer. | Lin WY et al. | β | 2013 | β |
| A systematic mapping approach of 16q12.2/FTO and BMI in more than 20,000 African Americans narrows in on the underlying functional variation: results from the Population Architecture using Genomics and Epidemiology (PAGE) study. | Peters U et al. | β | 2013 | β |
| Building a genome analysis pipeline to predict disease risk and prevent disease. | Bromberg Y | β | 2013 | β |
| Common variants at SCN5A-SCN10A and HEY2 are associated with Brugada syndrome, a rare disease with high risk of sudden cardiac death. | Bezzina CR et al. | β | 2013 | β |
| Comparison of different methods for imputing genome-wide marker genotypes in Swedish and Finnish Red Cattle. | Ma P et al. | β | 2013 | β |
| EMR-linked GWAS study: investigation of variation landscape of loci for body mass index in children. | Namjou B et al. | β | 2013 | β |
| Fine mapping of 11q13.5 identifies regions associated with prostate cancer and prostate cancer death. | Nurminen R et al. | β | 2013 | β |
| Fine-mapping of the 5p15.33, 6p22.1-p21.31, and 15q25.1 regions identifies functional and histology-specific lung cancer susceptibility loci in African-Americans. | Walsh KM et al. | β | 2013 | β |
| Genetic association suggests that SMOC1 mediates between prenatal sex hormones and digit ratio. | Lawrance-Owen AJ et al. | β | 2013 | β |
| Genetic influences on plasma CFH and CFHR1 concentrations and their role in susceptibility to age-related macular degeneration. | Ansari M et al. | β | 2013 | β |
| Genetic risk factors in two Utah pedigrees at high risk for suicide. | Coon H et al. | β | 2013 | β |
| Genetic risk prediction in a small cohort of healthy adults in Atlanta. | Zhao J et al. | β | 2013 | β |
| Genetic variants predicting left ventricular hypertrophy in a diabetic population: a Go-DARTS study including meta-analysis. | Parry HM et al. | β | 2013 | β |
| Genome-wide association analysis identifies 13 new risk loci for schizophrenia. | Ripke S et al. | β | 2013 | β |
| Genome-wide association study identifies a novel locus contributing to type 2 diabetes susceptibility in Sikhs of Punjabi origin from India. | Saxena R et al. | β | 2013 | β |
| Genome-wide association study identifies multiple susceptibility loci for pulmonary fibrosis. | Fingerlin TE et al. | β | 2013 | β |
| Genome-wide association study in BRCA1 mutation carriers identifies novel loci associated with breast and ovarian cancer risk. | Couch FJ et al. | β | 2013 | β |
| Genotype calling and phasing using next-generation sequencing reads and a haplotype scaffold. | Menelaou A et al. | β | 2013 | β |
| Haplotype estimation using sequencing reads. | Delaneau O et al. | β | 2013 | β |
| Identification and molecular characterization of a new ovarian cancer susceptibility locus at 17q21.31. | Permuth-Wey J et al. | β | 2013 | β |
| Identification of KCNN2 as a susceptibility locus for coronary artery aneurysms in Kawasaki disease using genome-wide association analysis. | Kim JJ et al. | β | 2013 | β |
| Improved whole-chromosome phasing for disease and population genetic studies. | Delaneau O et al. | β | 2013 | β |
| Imputation across genotyping arrays for genome-wide association studies: assessment of bias and a correction strategy. | Johnson EO et al. | β | 2013 | β |
| Imputation-based genomic coverage assessments of current human genotyping arrays. | Nelson SC et al. | β | 2013 | β |
| Imputation-based meta-analysis of severe malaria in three African populations. | Band G et al. | β | 2013 | β |
| Imputation of high-density genotypes in the Fleckvieh cattle population. | Pausch H et al. | β | 2013 | β |
| Integrative modeling of eQTLs and cis-regulatory elements suggests mechanisms underlying cell type specificity of eQTLs. | Brown CD et al. | β | 2013 | β |
| Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data. | Yang WY et al. | β | 2013 | β |
| Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. | O'Rawe J et al. | β | 2013 | β |
| MaCH-admix: genotype imputation for admixed populations. | Liu EY et al. | β | 2013 | β |
| Methods of tagSNP selection and other variables affecting imputation accuracy in swine. | Badke YM et al. | β | 2013 | β |
| Multi-population classical HLA type imputation. | Dilthey A et al. | β | 2013 | β |
| Multiway admixture deconvolution using phased or unphased ancestral panels. | Churchhouse C et al. | β | 2013 | β |
| Next generation sequencing and rare genetic variants: from human population studies to medical genetics. | Matullo G et al. | β | 2013 | β |
| On the design of clone-based haplotyping. | Lo C et al. | β | 2013 | β |
| Pathways-driven sparse regression identifies pathways and genes associated with high-density lipoprotein cholesterol in two Asian cohorts. | Silver M et al. | β | 2013 | β |
| Pharmacogenomic Discovery Delineating the Genetic Basis of Drug Response. | Zhang W et al. | β | 2013 | β |
| Rank-based genome-wide analysis reveals the association of ryanodine receptor-2 gene variants with childhood asthma among human populations. | Ding L et al. | β | 2013 | β |
| RNA-Seq optimization with eQTL gold standards. | Ellis SE et al. | β | 2013 | β |
| A coalescent model for genotype imputation. | Jewett EM et al. | β | 2012 | β |
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| Assessment of genotype imputation performance using 1000 Genomes in African American studies. | Hancock DB et al. | β | 2012 | β |
| Association study of nicotinic acetylcholine receptor genes identifies a novel lung cancer susceptibility locus near CHRNA1 in African-Americans. | Walsh KM et al. | β | 2012 | β |
| Common variation at 6q16 within HACE1 and LIN28B influences susceptibility to neuroblastoma. | Diskin SJ et al. | β | 2012 | β |
| Effect of genome-wide genotyping and reference panels on rare variants imputation. | Zheng HF et al. | β | 2012 | β |
| Fine-mapping of IL16 gene and prostate cancer risk in African Americans. | Batai K et al. | β | 2012 | β |
| Gene-wide characterization of common quantitative trait loci for ABCB1 mRNA expression in normal liver tissues in the Chinese population. | Shou W et al. | β | 2012 | β |
| Genome-wide association study of intracranial aneurysms confirms role of Anril and SOX17 in disease risk. | Foroud T et al. | β | 2012 | β |
| Genotype Imputation for Latinos Using the HapMap and 1000 Genomes Project Reference Panels. | Gao X et al. | β | 2012 | β |
| Imputation of rare variants in next-generation association studies. | Asimit JL et al. | β | 2012 | β |
| Inferring haplotypes and parental genotypes in larger full sib-ships and other pedigrees with missing or erroneous genotype data. | Nettelblad C | β | 2012 | β |
| Limitations of the human reference genome for personalized genomics. | Rosenfeld JA et al. | β | 2012 | β |
| Phasing of many thousands of genotyped samples. | Williams AL et al. | β | 2012 | β |
| Population genetics of rare variants and complex diseases. | Maher MC et al. | β | 2012 | β |
| The TERT variant rs2736100 is associated with colorectal cancer risk. | Kinnersley B et al. | β | 2012 | β |