Published in Nat Genet on July 22, 2012
A global reference for human genetic variation. Nature (2015) 12.85
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods (2013) 5.43
Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet (2014) 4.60
Identification of 15 new psoriasis susceptibility loci highlights the role of innate immunity. Nat Genet (2012) 4.13
Low concordance of multiple variant-calling pipelines: practical implications for exome and genome sequencing. Genome Med (2013) 3.90
Data for Genetic Analysis Workshop 18: human whole genome sequence, blood pressure, and simulated phenotypes in extended pedigrees. BMC Proc (2014) 3.82
Rare-variant association analysis: study designs and statistical tests. Am J Hum Genet (2014) 3.42
Genome-wide association analysis of more than 120,000 individuals identifies 15 new susceptibility loci for breast cancer. Nat Genet (2015) 3.02
A comprehensive 1000 Genomes-based genome-wide association meta-analysis of coronary artery disease. Nat Genet (2015) 2.84
Meta-analysis methods for genome-wide association studies and beyond. Nat Rev Genet (2013) 2.58
Variants in the ATP-binding cassette transporter (ABCA7), apolipoprotein E ϵ4,and the risk of late-onset Alzheimer disease in African Americans. JAMA (2013) 2.58
Partitioning heritability of regulatory and cell-type-specific variants across 11 common diseases. Am J Hum Genet (2014) 2.53
Common genetic variants influence human subcortical brain structures. Nature (2015) 2.40
Rare variants of large effect in BRCA2 and CHEK2 affect risk of lung cancer. Nat Genet (2014) 2.39
A general approach for haplotype phasing across the full spectrum of relatedness. PLoS Genet (2014) 2.38
Risk loci for chronic obstructive pulmonary disease: a genome-wide association study and meta-analysis. Lancet Respir Med (2014) 2.28
The clinical and genetic features of COPD-asthma overlap syndrome. Eur Respir J (2014) 2.27
Imputation of the rare HOXB13 G84E mutation and cancer risk in a large population-based cohort. PLoS Genet (2015) 2.19
Epilepsy, hippocampal sclerosis and febrile seizures linked by common genetic variation around SCN1A. Brain (2013) 1.95
minimac2: faster genotype imputation. Bioinformatics (2014) 1.88
A genome-wide association meta-analysis of self-reported allergy identifies shared and allergy-specific susceptibility loci. Nat Genet (2013) 1.85
A gene-based association method for mapping traits using reference transcriptome data. Nat Genet (2015) 1.82
Influence of common genetic variation on lung cancer risk: meta-analysis of 14 900 cases and 29 485 controls. Hum Mol Genet (2012) 1.77
Bayesian test for colocalisation between pairs of genetic association studies using summary statistics. PLoS Genet (2014) 1.71
A genome-wide association study identifies CDHR3 as a susceptibility locus for early childhood asthma with severe exacerbations. Nat Genet (2013) 1.70
The European Genome-phenome Archive of human data consented for biomedical research. Nat Genet (2015) 1.70
Common and rare von Willebrand factor (VWF) coding variants, VWF levels, and factor VIII levels in African Americans: the NHLBI Exome Sequencing Project. Blood (2013) 1.69
Meta-analysis of shared genetic architecture across ten pediatric autoimmune diseases. Nat Med (2015) 1.66
Susceptibility to tuberculosis is associated with variants in the ASAP1 gene encoding a regulator of dendritic cell migration. Nat Genet (2015) 1.66
Genetic variants associated with response to lithium treatment in bipolar disorder: a genome-wide association study. Lancet (2016) 1.61
A reference panel of 64,976 haplotypes for genotype imputation. Nat Genet (2016) 1.61
ABCB1 (MDR1) polymorphisms and ovarian cancer progression and survival: a comprehensive analysis from the Ovarian Cancer Association Consortium and The Cancer Genome Atlas. Gynecol Oncol (2013) 1.61
Methylation QTLs in the developing brain and their enrichment in schizophrenia risk loci. Nat Neurosci (2015) 1.60
Imputation of exome sequence variants into population- based samples and blood-cell-trait-associated loci in African Americans: NHLBI GO Exome Sequencing Project. Am J Hum Genet (2012) 1.60
A new approach for efficient genotype imputation using information from relatives. BMC Genomics (2014) 1.59
Genome-wide association identifies regulatory Loci associated with distinct local histogram emphysema patterns. Am J Respir Crit Care Med (2014) 1.57
Integromic analysis of genetic variation and gene expression identifies networks for cardiovascular disease phenotypes. Circulation (2014) 1.55
A large genome-wide association study of age-related macular degeneration highlights contributions of rare and common variants. Nat Genet (2015) 1.55
Quantifying missing heritability at known GWAS loci. PLoS Genet (2013) 1.55
Improved imputation of low-frequency and rare variants using the UK10K haplotype reference panel. Nat Commun (2015) 1.53
Genome sequencing elucidates Sardinian genetic architecture and augments association analyses for lipid and blood inflammatory markers. Nat Genet (2015) 1.52
Genetic variance estimation with imputed variants finds negligible missing heritability for human height and body mass index. Nat Genet (2015) 1.51
Large-scale genetic study in East Asians identifies six new loci associated with colorectal cancer risk. Nat Genet (2014) 1.49
Assessment of the genetic basis of rosacea by genome-wide association study. J Invest Dermatol (2015) 1.48
Imputation of high-density genotypes in the Fleckvieh cattle population. Genet Sel Evol (2013) 1.48
Novel genetic predictors of venous thromboembolism risk in African Americans. Blood (2016) 1.43
TET2 and CSMD1 genes affect SBP response to hydrochlorothiazide in never-treated essential hypertensives. J Hypertens (2015) 1.43
Multi-population classical HLA type imputation. PLoS Comput Biol (2013) 1.43
Genome-wide association studies in oesophageal adenocarcinoma and Barrett's oesophagus: a large-scale meta-analysis. Lancet Oncol (2016) 1.40
Genetic fine mapping and genomic annotation defines causal mechanisms at type 2 diabetes susceptibility loci. Nat Genet (2015) 1.39
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun (2014) 1.38
An epigenome-wide association study of total serum immunoglobulin E concentration. Nature (2015) 1.37
APOE and BCHE as modulators of cerebral amyloid deposition: a florbetapir PET genome-wide association study. Mol Psychiatry (2013) 1.37
Molecular genetic evidence for overlap between general cognitive ability and risk for schizophrenia: a report from the Cognitive Genomics consorTium (COGENT). Mol Psychiatry (2013) 1.34
Common variation at 2p13.3, 3q29, 7p13 and 17q25.1 associated with susceptibility to pancreatic cancer. Nat Genet (2015) 1.34
Association study of common genetic variants and HIV-1 acquisition in 6,300 infected cases and 7,200 controls. PLoS Pathog (2013) 1.33
Classic selective sweeps revealed by massive sequencing in cattle. PLoS Genet (2014) 1.33
NeuroX, a fast and efficient genotyping platform for investigation of neurodegenerative diseases. Neurobiol Aging (2014) 1.32
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics (2014) 1.31
HLA-DQA1-HLA-DRB1 variants confer susceptibility to pancreatitis induced by thiopurine immunosuppressants. Nat Genet (2014) 1.27
Genome-wide characterization of shared and distinct genetic components that influence blood lipid levels in ethnically diverse human populations. Am J Hum Genet (2013) 1.27
Parkinson-associated risk variant in distal enhancer of α-synuclein modulates target gene expression. Nature (2016) 1.25
High-density genotyping of immune loci in Koreans and Europeans identifies eight new rheumatoid arthritis risk loci. Ann Rheum Dis (2014) 1.25
The presence of methylation quantitative trait loci indicates a direct genetic influence on the level of DNA methylation in adipose tissue. PLoS One (2013) 1.25
Genome-wide association study implicates NDST3 in schizophrenia and bipolar disorder. Nat Commun (2013) 1.25
Strategies for imputation to whole genome sequence using a single or multi-breed reference population in cattle. BMC Genomics (2014) 1.23
Genome-wide meta-analysis identifies five new susceptibility loci for cutaneous malignant melanoma. Nat Genet (2015) 1.23
Imputation and quality control steps for combining multiple genome-wide datasets. Front Genet (2014) 1.21
Contribution of genetic variation to transgenerational inheritance of DNA methylation. Genome Biol (2014) 1.20
Whole-genome sequence-based analysis of thyroid function. Nat Commun (2015) 1.16
Genotype Imputation with Millions of Reference Samples. Am J Hum Genet (2016) 1.15
Epigenetic age of the pre-frontal cortex is associated with neuritic plaques, amyloid load, and Alzheimer's disease related cognitive functioning. Aging (Albany NY) (2015) 1.14
A genome-wide association scan in admixed Latin Americans identifies loci influencing facial and scalp hair features. Nat Commun (2016) 1.13
Genetic and environmental exposures constrain epigenetic drift over the human life course. Genome Res (2014) 1.13
Meta-analysis of 375,000 individuals identifies 38 susceptibility loci for migraine. Nat Genet (2016) 1.08
Expression QTL-based analyses reveal candidate causal genes and loci across five tumor types. Hum Mol Genet (2014) 1.08
Genome-Wide Association in Tomato Reveals 44 Candidate Loci for Fruit Metabolic Traits. Plant Physiol (2014) 1.08
Next Generation Statistical Genetics: Modeling, Penalization, and Optimization in High-Dimensional Data. Annu Rev Stat Appl (2014) 1.08
Imputation-based genomic coverage assessments of current human genotyping arrays. G3 (Bethesda) (2013) 1.06
Dynamic Role of trans Regulation of Gene Expression in Relation to Complex Traits. Am J Hum Genet (2017) 1.06
A genome-wide association study identifies a functional ERAP2 haplotype associated with birdshot chorioretinopathy. Hum Mol Genet (2014) 1.05
Imputation of coding variants in African Americans: better performance using data from the exome sequencing project. Bioinformatics (2013) 1.05
Rare variant association studies: considerations, challenges and opportunities. Genome Med (2015) 1.05
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet (2015) 1.05
GWAS of 89,283 individuals identifies genetic variants associated with self-reporting of being a morning person. Nat Commun (2016) 1.04
Clozapine-induced agranulocytosis is associated with rare HLA-DQB1 and HLA-B alleles. Nat Commun (2014) 1.04
Predicting genome-wide DNA methylation using methylation marks, genomic position, and DNA regulatory elements. Genome Biol (2015) 1.03
A novel locus of resistance to severe malaria in a region of ancient balancing selection. Nature (2015) 1.03
An integrated genetic-epigenetic analysis of schizophrenia: evidence for co-localization of genetic associations and differential DNA methylation. Genome Biol (2016) 1.02
Genetic dissection of acute anterior uveitis reveals similarities and differences in associations observed with ankylosing spondylitis. Arthritis Rheumatol (2015) 1.02
A Genome-Wide Association Study of Emphysema and Airway Quantitative Imaging Phenotypes. Am J Respir Crit Care Med (2015) 1.02
Progress and promise in understanding the genetic basis of common diseases. Proc Biol Sci (2015) 1.02
Genome-wide association analysis identifies TXNRD2, ATXN2 and FOXC1 as susceptibility loci for primary open-angle glaucoma. Nat Genet (2016) 1.02
Trans-ethnic genome-wide association studies: advantages and challenges of mapping in diverse populations. Genome Med (2014) 1.02
Next-generation genotype imputation service and methods. Nat Genet (2016) 1.01
Enhanced meta-analysis and replication studies identify five new psoriasis susceptibility loci. Nat Commun (2015) 1.01
Sixteen new lung function signals identified through 1000 Genomes Project reference panel imputation. Nat Commun (2015) 1.01
Polymorphisms in a Putative Enhancer at the 10q21.2 Breast Cancer Risk Locus Regulate NRBF2 Expression. Am J Hum Genet (2015) 1.00
Genome-wide association study of 14,000 cases of seven common diseases and 3,000 shared controls. Nature (2007) 144.95
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
The International HapMap Project. Nature (2003) 73.65
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet (2009) 30.09
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet (2006) 28.32
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Design of the Women's Health Initiative clinical trial and observational study. The Women's Health Initiative Study Group. Control Clin Trials (1998) 20.39
Genotype imputation. Annu Rev Genomics Hum Genet (2009) 18.64
A unified approach to genotype imputation and haplotype-phase inference for large data sets of trios and unrelated individuals. Am J Hum Genet (2009) 17.80
Genotype imputation for genome-wide association studies. Nat Rev Genet (2010) 14.59
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Family-based association tests for genomewide association scans. Am J Hum Genet (2007) 10.67
Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet (2008) 9.69
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
A linear complexity phasing method for thousands of genomes. Nat Methods (2011) 8.30
In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08
Handling marker-marker linkage disequilibrium: pedigree analysis with clustered markers. Am J Hum Genet (2005) 6.12
Use of population isolates for mapping complex traits. Nat Rev Genet (2000) 4.28
Isolates and their potential use in complex gene mapping efforts. Curr Opin Genet Dev (2004) 2.22
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
RNA-seq: an assessment of technical reproducibility and comparison with gene expression arrays. Genome Res (2008) 62.07
Inference of population structure using multilocus genotype data: linked loci and correlated allele frequencies. Genetics (2003) 53.11
A genome-wide association study of type 2 diabetes in Finns detects multiple susceptibility variants. Science (2007) 43.16
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Genome-wide association defines more than 30 distinct susceptibility loci for Crohn's disease. Nat Genet (2008) 30.20
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet (2009) 30.09
A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase. Am J Hum Genet (2006) 28.32
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
MaCH: using sequence and genotype data to estimate haplotypes and unobserved genotypes. Genet Epidemiol (2010) 26.41
Newly identified loci that influence lipid concentrations and risk of coronary artery disease. Nat Genet (2008) 25.83
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
A genome-wide association study of global gene expression. Nat Genet (2007) 22.98
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
METAL: fast and efficient meta-analysis of genomewide association scans. Bioinformatics (2010) 21.21
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
Modeling linkage disequilibrium and identifying recombination hotspots using single-nucleotide polymorphism data. Genetics (2003) 17.73
Joint analysis is more efficient than replication-based analysis for two-stage genome-wide association studies. Nat Genet (2006) 17.36
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86
Identification of ten loci associated with height highlights new biological pathways in human growth. Nat Genet (2008) 16.25
Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet (2008) 15.94
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet (2007) 15.55
Genome-wide association scan shows genetic variants in the FTO gene are associated with obesity-related traits. PLoS Genet (2007) 14.99
Genetic variants regulating ORMDL3 expression contribute to the risk of childhood asthma. Nature (2007) 14.43
Genes mirror geography within Europe. Nature (2008) 14.23
LocusZoom: regional visualization of genome-wide association scan results. Bioinformatics (2010) 13.54
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
A global reference for human genetic variation. Nature (2015) 12.85
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Traces of human migrations in Helicobacter pylori populations. Science (2003) 11.92
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Inferring weak population structure with the assistance of sample group information. Mol Ecol Resour (2009) 10.81
Inference of population structure using multilocus genotype data: dominant markers and null alleles. Mol Ecol Notes (2007) 10.11
High-resolution mapping of expression-QTLs yields insight into human gene regulation. PLoS Genet (2008) 9.68
Genome-wide scan reveals association of psoriasis with IL-23 and NF-kappaB pathways. Nat Genet (2009) 9.45
Genotype imputation with thousands of genomes. G3 (Bethesda) (2011) 8.77
Meta-analysis and imputation refines the association of 15q25 with smoking quantity. Nat Genet (2010) 8.55
Interpreting principal component analyses of spatial population genetic variation. Nat Genet (2008) 8.49
A linear complexity phasing method for thousands of genomes. Nat Methods (2011) 8.30
Heritability of cardiovascular and personality traits in 6,148 Sardinians. PLoS Genet (2006) 8.19
Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Nat Genet (2010) 7.94
Common variants in the GDF5-UQCC region are associated with variation in human height. Nat Genet (2008) 7.31
In silico method for inferring genotypes in pedigrees. Nat Genet (2006) 7.08
A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03
Evidence for substantial fine-scale variation in recombination rates across the human genome. Nat Genet (2004) 6.99
Practical issues in imputation-based association mapping. PLoS Genet (2008) 6.76
Genome-wide efficient mixed-model analysis for association studies. Nat Genet (2012) 6.62
Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip. PLoS Genet (2009) 6.61
DNase I sensitivity QTLs are a major determinant of human expression variation. Nature (2012) 6.17
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Two-stage two-locus models in genome-wide association. PLoS Genet (2006) 5.60
New loci associated with kidney function and chronic kidney disease. Nat Genet (2010) 5.58
Improved whole-chromosome phasing for disease and population genetic studies. Nat Methods (2013) 5.43
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Genome-wide association study shows BCL11A associated with persistent fetal hemoglobin and amelioration of the phenotype of beta-thalassemia. Proc Natl Acad Sci U S A (2008) 5.27
Powerful regression-based quantitative-trait linkage analysis of general pedigrees. Am J Hum Genet (2002) 5.20
PEDSTATS: descriptive statistics, graphics and quality assessment for gene mapping data. Bioinformatics (2005) 5.14
A robust statistical method for case-control association testing with copy number variation. Nat Genet (2008) 4.78
Variants within the immunoregulatory CBLB gene are associated with multiple sclerosis. Nat Genet (2010) 4.69
Using haplotype blocks to map human complex trait loci. Trends Genet (2003) 4.61
CFH haplotypes without the Y402H coding variant show strong association with susceptibility to age-related macular degeneration. Nat Genet (2006) 4.51
Pervasive sharing of genetic effects in autoimmune disease. PLoS Genet (2011) 4.42
Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet (2009) 4.30
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
Optimal designs for two-stage genome-wide association studies. Genet Epidemiol (2007) 4.22
Sequence and haplotype analysis supports HLA-C as the psoriasis susceptibility 1 gene. Am J Hum Genet (2006) 4.22
Common variants at ten loci modulate the QT interval duration in the QTSCD Study. Nat Genet (2009) 4.10
Genetic variants influencing circulating lipid levels and risk of coronary artery disease. Arterioscler Thromb Vasc Biol (2010) 4.08
Common variants at five new loci associated with early-onset inflammatory bowel disease. Nat Genet (2009) 3.82
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Sequence features in regions of weak and strong linkage disequilibrium. Genome Res (2005) 3.74
Genome-wide association study of PR interval. Nat Genet (2010) 3.73
Meta-analysis of genome-wide association studies in >80 000 subjects identifies multiple loci for C-reactive protein levels. Circulation (2011) 3.68
GENOME: a rapid coalescent-based whole genome simulator. Bioinformatics (2007) 3.65
Polymorphisms of the HNF1A gene encoding hepatocyte nuclear factor-1 alpha are associated with C-reactive protein. Am J Hum Genet (2008) 3.61
Sex-specific and lineage-specific alternative splicing in primates. Genome Res (2009) 3.61
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Nat Genet (2010) 3.55
Variations in the G6PC2/ABCB11 genomic region are associated with fasting glucose levels. J Clin Invest (2008) 3.51
A variant of mitochondrial protein LOC387715/ARMS2, not HTRA1, is strongly associated with age-related macular degeneration. Proc Natl Acad Sci U S A (2007) 3.50
Genome-wide association study of plasma polyunsaturated fatty acids in the InCHIANTI Study. PLoS Genet (2009) 3.38
Gene expression in skin and lymphoblastoid cells: Refined statistical method reveals extensive overlap in cis-eQTL signals. Am J Hum Genet (2010) 3.28