Published in PLoS Comput Biol on July 12, 2012
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Improved imputation quality of low-frequency and rare variants in European samples using the 'Genome of The Netherlands'. Eur J Hum Genet (2014) 1.41
Fast and accurate imputation of summary statistics enhances evidence of functional enrichment. Bioinformatics (2014) 1.31
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Whole-exome sequencing of over 4100 men of African ancestry and prostate cancer risk. Hum Mol Genet (2015) 0.81
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Finding the missing heritability of complex diseases. Nature (2009) 67.95
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Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Genome-wide association studies for complex traits: consensus, uncertainty and challenges. Nat Rev Genet (2008) 30.94
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
Solution hybrid selection with ultra-long oligonucleotides for massively parallel targeted sequencing. Nat Biotechnol (2009) 27.17
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Rapid and accurate haplotype phasing and missing-data inference for whole-genome association studies by use of localized haplotype clustering. Am J Hum Genet (2007) 24.68
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
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Common and rare variants in multifactorial susceptibility to common diseases. Nat Genet (2008) 13.95
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
Evaluating coverage of genome-wide association studies. Nat Genet (2006) 11.40
Genetic heterogeneity in human disease. Cell (2010) 10.67
Reconstructing Indian population history. Nature (2009) 9.28
Genome-wide genetic marker discovery and genotyping using next-generation sequencing. Nat Rev Genet (2011) 9.26
Genetic history of an archaic hominin group from Denisova Cave in Siberia. Nature (2010) 8.99
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Genotype and SNP calling from next-generation sequencing data. Nat Rev Genet (2011) 8.34
The genetic landscape of the childhood cancer medulloblastoma. Science (2010) 8.34
Inference of human population history from individual whole-genome sequences. Nature (2011) 8.05
A genotype calling algorithm for the Illumina BeadArray platform. Bioinformatics (2007) 8.03
Practical issues in imputation-based association mapping. PLoS Genet (2008) 6.76
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip. PLoS Genet (2009) 6.61
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Performance comparison of whole-genome sequencing platforms. Nat Biotechnol (2011) 5.79
Simultaneous genotype calling and haplotype phasing improves genotype accuracy and reduces false-positive associations for genome-wide association studies. Am J Hum Genet (2009) 5.65
A composite of multiple signals distinguishes causal variants in regions of positive selection. Science (2010) 5.61
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Low-coverage sequencing: implications for design of complex trait association studies. Genome Res (2011) 5.34
Deep sequencing reveals 50 novel genes for recessive cognitive disorders. Nature (2011) 4.85
Haplotype phasing: existing methods and new developments. Nat Rev Genet (2011) 4.66
A window into third-generation sequencing. Hum Mol Genet (2010) 4.07
Fine mapping of five loci associated with low-density lipoprotein cholesterol detects variants that double the explained heritability. PLoS Genet (2011) 3.56
Power to detect risk alleles using genome-wide tag SNP panels. PLoS Genet (2007) 3.29
A comprehensive evaluation of SNP genotype imputation. Hum Genet (2008) 3.18
SNP detection and genotyping from low-coverage sequencing data on multiple diploid samples. Genome Res (2010) 2.97
Accurate detection and genotyping of SNPs utilizing population sequencing data. Genome Res (2010) 2.84
Accuracy of genome-wide imputation of untyped markers and impacts on statistical power for association studies. BMC Genet (2009) 2.16
Calibrating the performance of SNP arrays for whole-genome association studies. PLoS Genet (2008) 1.86
Transferability of tag SNPs to capture common genetic variation in DNA repair genes across multiple populations. Pac Symp Biocomput (2006) 1.21
M(3): an improved SNP calling algorithm for Illumina BeadArray data. Bioinformatics (2011) 1.09
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The Genome Analysis Toolkit: a MapReduce framework for analyzing next-generation DNA sequencing data. Genome Res (2010) 97.51
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
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PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
Genome-wide association analysis identifies loci for type 2 diabetes and triglyceride levels. Science (2007) 51.70
The structure of haplotype blocks in the human genome. Science (2002) 50.88
Meta-analysis of genome-wide association data and large-scale replication identifies additional susceptibility loci for type 2 diabetes. Nat Genet (2008) 35.06
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Efficiency and power in genetic association studies. Nat Genet (2005) 25.56
Six new loci associated with body mass index highlight a neuronal influence on body weight regulation. Nat Genet (2008) 22.35
Detecting recent positive selection in the human genome from haplotype structure. Nature (2002) 22.00
Common variants at 30 loci contribute to polygenic dyslipidemia. Nat Genet (2008) 20.66
Association between microdeletion and microduplication at 16p11.2 and autism. N Engl J Med (2008) 19.71
Integrated detection and population-genetic analysis of SNPs and copy number variation. Nat Genet (2008) 19.55
New genetic loci implicated in fasting glucose homeostasis and their impact on type 2 diabetes risk. Nat Genet (2010) 17.89
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
Evolution and functional impact of rare coding variation from deep sequencing of human exomes. Science (2012) 17.12
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
Assessing the impact of population stratification on genetic association studies. Nat Genet (2004) 16.28
Replicating genotype-phenotype associations. Nature (2007) 16.11
Integrated genotype calling and association analysis of SNPs, common copy number polymorphisms and rare CNVs. Nat Genet (2008) 15.89
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Evaluating and improving power in whole-genome association studies using fixed marker sets. Nat Genet (2006) 14.76
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
Patterns and rates of exonic de novo mutations in autism spectrum disorders. Nature (2012) 13.71
Large-scale association analysis identifies 13 new susceptibility loci for coronary artery disease. Nat Genet (2011) 13.25
Genetic variants in novel pathways influence blood pressure and cardiovascular disease risk. Nature (2011) 13.25
Genome-wide association study identifies eight loci associated with blood pressure. Nat Genet (2009) 12.44
A systematic survey of loss-of-function variants in human protein-coding genes. Science (2012) 12.25
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Plasma HDL cholesterol and risk of myocardial infarction: a mendelian randomisation study. Lancet (2012) 12.10
Methods for high-density admixture mapping of disease genes. Am J Hum Genet (2004) 12.02
Estimation of the multiple testing burden for genomewide association studies of nearly all common variants. Genet Epidemiol (2008) 11.28
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Admixture mapping identifies 8q24 as a prostate cancer risk locus in African-American men. Proc Natl Acad Sci U S A (2006) 10.32
Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease. Nat Genet (2008) 9.52
Demonstrating stratification in a European American population. Nat Genet (2005) 9.49
Testing for an unusual distribution of rare variants. PLoS Genet (2011) 9.28
Darwinian evolution can follow only very few mutational paths to fitter proteins. Science (2006) 9.07
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Two independent alleles at 6q23 associated with risk of rheumatoid arthritis. Nat Genet (2007) 8.74
Clinical risk factors, DNA variants, and the development of type 2 diabetes. N Engl J Med (2008) 8.70
Identifying relationships among genomic disease regions: predicting genes at pathogenic SNP associations and rare deletions. PLoS Genet (2009) 8.39
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
TCF7L2 polymorphisms and progression to diabetes in the Diabetes Prevention Program. N Engl J Med (2006) 7.75
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Common variation in three genes, including a noncoding variant in CFH, strongly influences risk of age-related macular degeneration. Nat Genet (2006) 7.49
Common variants at CD40 and other loci confer risk of rheumatoid arthritis. Nat Genet (2008) 7.07
A common haplotype of interferon regulatory factor 5 (IRF5) regulates splicing and expression and is associated with increased risk of systemic lupus erythematosus. Nat Genet (2006) 6.98
Exome sequencing, ANGPTL3 mutations, and familial combined hypolipidemia. N Engl J Med (2010) 6.84
Discovery and genotyping of genome structural polymorphism by sequencing on a population scale. Nat Genet (2011) 6.67
Genetic variation in GIPR influences the glucose and insulin responses to an oral glucose challenge. Nat Genet (2010) 6.66
Replication of putative candidate-gene associations with rheumatoid arthritis in >4,000 samples from North America and Sweden: association of susceptibility with PTPN22, CTLA4, and PADI4. Am J Hum Genet (2005) 6.61
Erralpha and Gabpa/b specify PGC-1alpha-dependent oxidative phosphorylation gene expression that is altered in diabetic muscle. Proc Natl Acad Sci U S A (2004) 6.53
Genetic variants near TNFAIP3 on 6q23 are associated with systemic lupus erythematosus. Nat Genet (2008) 6.42
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
Age-related clonal hematopoiesis associated with adverse outcomes. N Engl J Med (2014) 6.12
Common inherited variation in mitochondrial genes is not enriched for associations with type 2 diabetes or related glycemic traits. PLoS Genet (2010) 5.79
Choosing haplotype-tagging SNPS based on unphased genotype data using a preliminary sample of unrelated subjects with an example from the Multiethnic Cohort Study. Hum Hered (2003) 5.78
Detection of regulatory variation in mouse genes. Nat Genet (2002) 5.76
Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease. Nat Genet (2011) 5.58
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Simultaneous determination of protein structure and dynamics. Nature (2005) 5.28
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
Genetic analysis of human traits in vitro: drug response and gene expression in lymphoblastoid cell lines. PLoS Genet (2008) 5.08
A locus on 19p13 modifies risk of breast cancer in BRCA1 mutation carriers and is associated with hormone receptor-negative breast cancer in the general population. Nat Genet (2010) 4.96
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Common variant in MTNR1B associated with increased risk of type 2 diabetes and impaired early insulin secretion. Nat Genet (2008) 4.84
Transferability of tag SNPs in genetic association studies in multiple populations. Nat Genet (2006) 4.78
Whole population, genome-wide mapping of hidden relatedness. Genome Res (2008) 4.72
Three functional variants of IFN regulatory factor 5 (IRF5) define risk and protective haplotypes for human lupus. Proc Natl Acad Sci U S A (2007) 4.71
The Lin28/let-7 axis regulates glucose metabolism. Cell (2011) 4.65
Guilt beyond a reasonable doubt. Nat Genet (2007) 4.56
A TALEN genome-editing system for generating human stem cell-based disease models. Cell Stem Cell (2012) 4.49
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42