Published in Science on April 23, 2004
A haplotype map of the human genome. Nature (2005) 105.70
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
A HapMap harvest of insights into the genetics of common disease. J Clin Invest (2008) 18.31
A high-resolution HLA and SNP haplotype map for disease association studies in the extended human MHC. Nat Genet (2006) 15.63
Genetic mapping in human disease. Science (2008) 15.12
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Accounting for decay of linkage disequilibrium in haplotype inference and missing-data imputation. Am J Hum Genet (2005) 14.09
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
RDP3: a flexible and fast computer program for analyzing recombination. Bioinformatics (2010) 9.49
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
Interrogating multiple aspects of variation in a full resequencing data set to infer human population size changes. Proc Natl Acad Sci U S A (2005) 5.21
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
Localizing recent adaptive evolution in the human genome. PLoS Genet (2007) 5.11
Candidate causal regulatory effects by integration of expression QTLs with complex trait genetic associations. PLoS Genet (2010) 4.95
Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81
Fine-scale recombination rate differences between sexes, populations and individuals. Nature (2010) 4.74
Forty-three loci associated with plasma lipoprotein size, concentration, and cholesterol content in genome-wide analysis. PLoS Genet (2009) 4.71
A combined linkage-physical map of the human genome. Am J Hum Genet (2004) 4.60
A high-resolution single nucleotide polymorphism genetic map of the mouse genome. PLoS Biol (2006) 4.57
Loci related to metabolic-syndrome pathways including LEPR,HNF1A, IL6R, and GCKR associate with plasma C-reactive protein: the Women's Genome Health Study. Am J Hum Genet (2008) 4.31
Functional copy-number alterations in cancer. PLoS One (2008) 4.27
How reliable are empirical genomic scans for selective sweeps? Genome Res (2006) 4.14
Sequence-level population simulations over large genomic regions. Genetics (2007) 4.04
The influence of recombination on human genetic diversity. PLoS Genet (2006) 4.04
Pervasive hitchhiking at coding and regulatory sites in humans. PLoS Genet (2009) 4.02
Sequence features in regions of weak and strong linkage disequilibrium. Genome Res (2005) 3.74
Discovery of rare variants via sequencing: implications for the design of complex trait association studies. PLoS Genet (2009) 3.72
Approximating the coalescent with recombination. Philos Trans R Soc Lond B Biol Sci (2005) 3.66
Forces shaping the fastest evolving regions in the human genome. PLoS Genet (2006) 3.32
The population genetics of structural variation. Nat Genet (2007) 3.07
The landscape of recombination in African Americans. Nature (2011) 3.06
A new approach to estimate parameters of speciation models with application to apes. Genome Res (2007) 2.93
Perspectives on human genetic variation from the HapMap Project. PLoS Genet (2005) 2.91
Novel association of ABO histo-blood group antigen with soluble ICAM-1: results of a genome-wide association study of 6,578 women. PLoS Genet (2008) 2.85
A high-resolution linkage-disequilibrium map of the human major histocompatibility complex and first generation of tag single-nucleotide polymorphisms. Am J Hum Genet (2005) 2.85
A fine-scale chimpanzee genetic map from population sequencing. Science (2012) 2.83
Runs of homozygosity reveal highly penetrant recessive loci in schizophrenia. Proc Natl Acad Sci U S A (2007) 2.81
Genome-wide patterns of genetic variation in worldwide Arabidopsis thaliana accessions from the RegMap panel. Nat Genet (2012) 2.78
Evidence of a large-scale functional organization of mammalian chromosomes. PLoS Genet (2005) 2.73
Mapping meiotic single-strand DNA reveals a new landscape of DNA double-strand breaks in Saccharomyces cerevisiae. PLoS Biol (2007) 2.71
Recombination hotspots and population structure in Plasmodium falciparum. PLoS Biol (2005) 2.67
The recombinational anatomy of a mouse chromosome. PLoS Genet (2008) 2.66
Inferring human colonization history using a copying model. PLoS Genet (2008) 2.64
The extent of linkage disequilibrium in rice (Oryza sativa L.). Genetics (2007) 2.56
Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54
A germline variant in the TP53 polyadenylation signal confers cancer susceptibility. Nat Genet (2011) 2.43
Unifying vertical and nonvertical evolution: a stochastic ARG-based framework. Syst Biol (2009) 2.40
Genomic variation in natural populations of Drosophila melanogaster. Genetics (2012) 2.33
Genome-wide control of the distribution of meiotic recombination. PLoS Biol (2009) 2.31
RDP4: Detection and analysis of recombination patterns in virus genomes. Virus Evol (2015) 2.23
Regulating double-stranded DNA break repair towards crossover or non-crossover during mammalian meiosis. Chromosome Res (2007) 2.22
Effect of genetic divergence in identifying ancestral origin using HAPAA. Genome Res (2008) 2.15
The hitchhiking effect on linkage disequilibrium between linked neutral loci. Genetics (2006) 2.06
Estimating diversifying selection and functional constraint in the presence of recombination. Genetics (2005) 2.02
Meiotic recombination in mammals: localization and regulation. Nat Rev Genet (2013) 2.00
Inviting instability: Transposable elements, double-strand breaks, and the maintenance of genome integrity. Mutat Res (2006) 2.00
The scale of mutational variation in the murid genome. Genome Res (2005) 1.95
Variants of the protein PRDM9 differentially regulate a set of human meiotic recombination hotspots highly active in African populations. Proc Natl Acad Sci U S A (2011) 1.90
Genetic loci associated with plasma concentration of low-density lipoprotein cholesterol, high-density lipoprotein cholesterol, triglycerides, apolipoprotein A1, and Apolipoprotein B among 6382 white women in genome-wide analysis with replication. Circ Cardiovasc Genet (2008) 1.89
Maximum-likelihood estimation of recent shared ancestry (ERSA). Genome Res (2011) 1.88
Inference of homologous recombination in bacteria using whole-genome sequences. Genetics (2010) 1.85
Neisseria meningitidis is structured in clades associated with restriction modification systems that modulate homologous recombination. Proc Natl Acad Sci U S A (2011) 1.84
Recombination rate estimation in the presence of hotspots. Genome Res (2007) 1.83
Using gene expression to investigate the genetic basis of complex disorders. Hum Mol Genet (2008) 1.82
The genetics of major depression. Neuron (2014) 1.80
Live hot, die young: transmission distortion in recombination hotspots. PLoS Genet (2007) 1.80
Widely conserved recombination patterns among single-stranded DNA viruses. J Virol (2008) 1.78
Recombination modulates how selection affects linked sites in Drosophila. PLoS Biol (2012) 1.77
Population genetic inference from resequencing data. Genetics (2008) 1.77
Epitope mapping and topographic analysis of VAR2CSA DBL3X involved in P. falciparum placental sequestration. PLoS Pathog (2006) 1.76
GENOMEPOP: a program to simulate genomes in populations. BMC Bioinformatics (2008) 1.76
A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations. Am J Hum Genet (2005) 1.75
The structure of linkage disequilibrium around a selective sweep. Genetics (2006) 1.75
Ancestry-shift refinement mapping of the C6orf97-ESR1 breast cancer susceptibility locus. PLoS Genet (2010) 1.74
Comparison of the chicken and turkey genomes reveals a higher rate of nucleotide divergence on microchromosomes than macrochromosomes. Genome Res (2004) 1.73
Mouse PRDM9 DNA-binding specificity determines sites of histone H3 lysine 4 trimethylation for initiation of meiotic recombination. PLoS Biol (2011) 1.73
Novel associations of CPS1, MUT, NOX4, and DPEP1 with plasma homocysteine in a healthy population: a genome-wide evaluation of 13 974 participants in the Women's Genome Health Study. Circ Cardiovasc Genet (2009) 1.71
Detecting rare variant associations by identity-by-descent mapping in case-control studies. Genetics (2012) 1.71
A pseudohitchhiking model of X vs. autosomal diversity. Genetics (2004) 1.71
Sperm cross-over activity in regions of the human genome showing extreme breakdown of marker association. Proc Natl Acad Sci U S A (2008) 1.70
Localization of Müllerian mimicry genes on a dense linkage map of Heliconius erato. Genetics (2006) 1.69
Novel association of HK1 with glycated hemoglobin in a non-diabetic population: a genome-wide evaluation of 14,618 participants in the Women's Genome Health Study. PLoS Genet (2008) 1.67
How homologous recombination generates a mutable genome. Hum Genomics (2005) 1.67
Bayesian graphical models for genomewide association studies. Am J Hum Genet (2006) 1.66
A discrete class of intergenic DNA dictates meiotic DNA break hotspots in fission yeast. PLoS Genet (2007) 1.64
Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome. Genome Res (2011) 1.62
Patterns and rates of intron divergence between humans and chimpanzees. Genome Biol (2007) 1.61
Genomic heterogeneity of background substitutional patterns in Drosophila melanogaster. Genetics (2004) 1.61
Coverage and characteristics of the Affymetrix GeneChip Human Mapping 100K SNP set. PLoS Genet (2006) 1.58
Genomics of divergence along a continuum of parapatric population differentiation. PLoS Genet (2015) 1.57
Genetic association mapping via evolution-based clustering of haplotypes. PLoS Genet (2007) 1.56
Estimating variable effective population sizes from multiple genomes: a sequentially markov conditional sampling distribution approach. Genetics (2013) 1.55
Population genetics of CAPN10 and GPR35: implications for the evolution of type 2 diabetes variants. Am J Hum Genet (2005) 1.55
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
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 fine-scale map of recombination rates and hotspots across the human genome. Science (2005) 26.82
A comparison of bayesian methods for haplotype reconstruction from population genotype data. Am J Hum Genet (2003) 26.59
Population genomics of human gene expression. Nat Genet (2007) 24.49
Genomewide association analysis of coronary artery disease. N Engl J Med (2007) 24.38
A comprehensive catalogue of somatic mutations from a human cancer genome. Nature (2009) 24.27
Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Nat Genet (2010) 23.08
Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature (2010) 20.01
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
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Replicating genotype-phenotype associations. Nature (2007) 16.11
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
The effects of human population structure on large genetic association studies. Nat Genet (2004) 14.88
Genome-wide strategies for detecting multiple loci that influence complex diseases. Nat Genet (2005) 14.88
Multiple regions within 8q24 independently affect risk for prostate cancer. Nat Genet (2007) 14.37
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Sequence variants in the autophagy gene IRGM and multiple other replicating loci contribute to Crohn's disease susceptibility. Nat Genet (2007) 13.74
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
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Ensembl 2014. Nucleic Acids Res (2013) 12.62
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
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Genome-wide association of early-onset myocardial infarction with single nucleotide polymorphisms and copy number variants. Nat Genet (2009) 12.19
Complete MHC haplotype sequencing for common disease gene mapping. Genome Res (2004) 12.09
Ensembl 2013. Nucleic Acids Res (2012) 11.70
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
Large-scale association analysis provides insights into the genetic architecture and pathophysiology of type 2 diabetes. Nat Genet (2012) 11.09
Variants in MTNR1B influence fasting glucose levels. Nat Genet (2008) 10.85
Signatures of mutation and selection in the cancer genome. Nature (2010) 9.75
Convergent adaptation of human lactase persistence in Africa and Europe. Nat Genet (2006) 9.44
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
A common sequence motif associated with recombination hot spots and genome instability in humans. Nat Genet (2008) 8.64
A genome-wide association study for celiac disease identifies risk variants in the region harboring IL2 and IL21. Nat Genet (2007) 8.50
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
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
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
Newly identified genetic risk variants for celiac disease related to the immune response. Nat Genet (2008) 7.63
Large-scale association analysis identifies new risk loci for coronary artery disease. Nat Genet (2012) 7.59
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
A first-generation linkage disequilibrium map of human chromosome 22. Nature (2002) 7.03
The DNA sequence of the human X chromosome. Nature (2005) 6.97
Mapping cis- and trans-regulatory effects across multiple tissues in twins. Nat Genet (2012) 6.97
Genetically distinct subsets within ANCA-associated vasculitis. N Engl J Med (2012) 6.93
Multiple common variants for celiac disease influencing immune gene expression. Nat Genet (2010) 6.90
Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip. PLoS Genet (2009) 6.61
Dense genotyping identifies and localizes multiple common and rare variant association signals in celiac disease. Nat Genet (2011) 6.36
A genome-wide meta-analysis identifies 22 loci associated with eight hematological parameters in the HaemGen consortium. Nat Genet (2009) 6.31
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet (2012) 6.25
The metabochip, a custom genotyping array for genetic studies of metabolic, cardiovascular, and anthropometric traits. PLoS Genet (2012) 6.15
The architecture of gene regulatory variation across multiple human tissues: the MuTHER study. PLoS Genet (2011) 5.95
Genome-wide association scan meta-analysis identifies three Loci influencing adiposity and fat distribution. PLoS Genet (2009) 5.81
Interaction between ERAP1 and HLA-B27 in ankylosing spondylitis implicates peptide handling in the mechanism for HLA-B27 in disease susceptibility. Nat Genet (2011) 5.56
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation (2008) 5.20
Inheritance of coronary artery disease in men: an analysis of the role of the Y chromosome. Lancet (2012) 5.16
New susceptibility locus for coronary artery disease on chromosome 3q22.3. Nat Genet (2009) 5.12
A physical map of the mouse genome. Nature (2002) 4.97
BAP1 loss defines a new class of renal cell carcinoma. Nat Genet (2012) 4.97
Genetic determinants of ulcerative colitis include the ECM1 locus and five loci implicated in Crohn's disease. Nat Genet (2008) 4.96
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Large-scale association analyses identify new loci influencing glycemic traits and provide insight into the underlying biological pathways. Nat Genet (2012) 4.73
GWAS of 126,559 individuals identifies genetic variants associated with educational attainment. Science (2013) 4.71
DNA microarrays for comparative genomic hybridization based on DOP-PCR amplification of BAC and PAC clones. Genes Chromosomes Cancer (2003) 4.68
Accessibility, sustainability, excellence: how to expand access to research publications. Executive summary. Int Microbiol (2013) 4.66
A statistical method for predicting classical HLA alleles from SNP data. Am J Hum Genet (2008) 4.65
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62