Published in Science on February 10, 2005
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
Detection of sharing by descent, long-range phasing and haplotype imputation. Nat Genet (2008) 9.69
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
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
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
Widespread genomic signatures of natural selection in hominid evolution. PLoS Genet (2009) 3.68
Hotspots for copy number variation in chimpanzees and humans. Proc Natl Acad Sci U S A (2006) 3.68
Histone H3 lysine 4 trimethylation marks meiotic recombination initiation sites. EMBO J (2008) 3.40
The impact of recombination on nucleotide substitutions in the human genome. PLoS Genet (2008) 3.16
Condensins regulate meiotic DNA break distribution, thus crossover frequency, by controlling chromosome structure. Cell (2009) 3.07
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 fine-scale chimpanzee genetic map from population sequencing. Science (2012) 2.83
The recombinational anatomy of a mouse chromosome. PLoS Genet (2008) 2.66
Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54
Unifying vertical and nonvertical evolution: a stochastic ARG-based framework. Syst Biol (2009) 2.40
Effect of genetic divergence in identifying ancestral origin using HAPAA. Genome Res (2008) 2.15
Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science (2012) 2.14
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
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
Hotspots of biased nucleotide substitutions in human genes. PLoS Biol (2009) 1.89
A chromosomal rearrangement hotspot can be identified from population genetic variation and is coincident with a hotspot for allelic recombination. Am J Hum Genet (2006) 1.86
Inference of homologous recombination in bacteria using whole-genome sequences. Genetics (2010) 1.85
Live hot, die young: transmission distortion in recombination hotspots. PLoS Genet (2007) 1.80
Recombination modulates how selection affects linked sites in Drosophila. PLoS Biol (2012) 1.77
Aging and gene expression in the primate brain. PLoS Biol (2005) 1.76
Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol (2010) 1.76
Biased clustered substitutions in the human genome: the footprints of male-driven biased gene conversion. Genome Res (2007) 1.72
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
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
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
Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome. Genome Res (2011) 1.62
G-quadruplex DNA sequences are evolutionarily conserved and associated with distinct genomic features in Saccharomyces cerevisiae. PLoS Comput Biol (2010) 1.47
Loss of a histone deacetylase dramatically alters the genomic distribution of Spo11p-catalyzed DNA breaks in Saccharomyces cerevisiae. Proc Natl Acad Sci U S A (2007) 1.46
High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. PLoS Genet (2006) 1.43
Confounding between recombination and selection, and the Ped/Pop method for detecting selection. Genome Res (2008) 1.42
Methods for human demographic inference using haplotype patterns from genomewide single-nucleotide polymorphism data. Genetics (2009) 1.42
A novel method with improved power to detect recombination hotspots from polymorphism data reveals multiple hotspots in human genes. Am J Hum Genet (2005) 1.39
Extensive sharing of MHC class II alleles between rhesus and cynomolgus macaques. Immunogenetics (2006) 1.36
A detailed genome-wide reconstruction of mouse metabolism based on human Recon 1. BMC Syst Biol (2010) 1.35
CpG island density and its correlations with genomic features in mammalian genomes. Genome Biol (2008) 1.30
The rise and fall of a human recombination hot spot. Nat Genet (2009) 1.25
Detecting positive selection within genomes: the problem of biased gene conversion. Philos Trans R Soc Lond B Biol Sci (2010) 1.25
Genome-wide meta-analysis for serum calcium identifies significantly associated SNPs near the calcium-sensing receptor (CASR) gene. PLoS Genet (2010) 1.25
Conservation of recombination hotspots in yeast. Proc Natl Acad Sci U S A (2010) 1.21
Recombination drives vertebrate genome contraction. PLoS Genet (2012) 1.20
Large-scale recombination rate patterns are conserved among human populations. Genome Res (2005) 1.17
A comprehensive linkage map of the dog genome. Genetics (2009) 1.17
HapMap methylation-associated SNPs, markers of germline DNA methylation, positively correlate with regional levels of human meiotic recombination. Genome Res (2009) 1.17
Genetic variants in REC8, RNF212, and PRDM9 influence male recombination in cattle. PLoS Genet (2012) 1.16
Recombination rate variation in closely related species. Heredity (Edinb) (2011) 1.16
Positive selection can create false hotspots of recombination. Genetics (2005) 1.15
The case of the fickle fingers: how the PRDM9 zinc finger protein specifies meiotic recombination hotspots in humans. PLoS Biol (2011) 1.15
Genetic and evolutionary correlates of fine-scale recombination rate variation in Drosophila persimilis. J Mol Evol (2010) 1.15
Genome-wide analyses of recombination prone regions predict role of DNA structural motif in recombination. PLoS One (2009) 1.14
Prdm9, a major determinant of meiotic recombination hotspots, is not functional in dogs and their wild relatives, wolves and coyotes. PLoS One (2011) 1.14
Haplotype block structure is conserved across mammals. PLoS Genet (2006) 1.13
Human imprinted chromosomal regions are historical hot-spots of recombination. PLoS Genet (2006) 1.12
Molecular evolution of genes in avian genomes. Genome Biol (2010) 1.12
Phylogenomics of primates and their ancestral populations. Genome Res (2009) 1.12
Hypervariable noncoding sequences in Saccharomyces cerevisiae. Genetics (2005) 1.12
Genetic analysis of genome-scale recombination rate evolution in house mice. PLoS Genet (2011) 1.12
A high-density linkage map enables a second-generation collared flycatcher genome assembly and reveals the patterns of avian recombination rate variation and chromosomal evolution. Mol Ecol (2014) 1.11
Genome-wide association analysis of soluble ICAM-1 concentration reveals novel associations at the NFKBIK, PNPLA3, RELA, and SH2B3 loci. PLoS Genet (2011) 1.10
Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence? Proc Biol Sci (2010) 1.10
Prospects and pitfalls in whole genome association studies. Philos Trans R Soc Lond B Biol Sci (2005) 1.09
Extensive recombination rate variation in the house mouse species complex inferred from genetic linkage maps. Genome Res (2010) 1.09
Variation in estimated recombination rates across human populations. Hum Genet (2007) 1.09
Human-specific CpG "beacons" identify loci associated with human-specific traits and disease. Epigenetics (2012) 1.07
Evolution of feline immunodeficiency virus in Felidae: implications for human health and wildlife ecology. Vet Immunol Immunopathol (2008) 1.07
Support for multiple classes of local expression clusters in Drosophila melanogaster, but no evidence for gene order conservation. Genome Biol (2011) 1.07
No effect of recombination on the efficacy of natural selection in primates. Genome Res (2008) 1.05
Genome-wide definitive haplotypes determined using a collection of complete hydatidiform moles. Genome Res (2005) 1.04
A new method for detecting human recombination hotspots and its applications to the HapMap ENCODE data. Am J Hum Genet (2006) 1.04
The beta -globin recombinational hotspot reduces the effects of strong selection around HbC, a recently arisen mutation providing resistance to malaria. Am J Hum Genet (2005) 1.03
Bonobos fall within the genomic variation of chimpanzees. PLoS One (2011) 1.03
Both selective and neutral processes drive GC content evolution in the human genome. BMC Evol Biol (2008) 1.02
Fine-scale population recombination rates, hotspots, and correlates of recombination in the Medicago truncatula genome. Genome Biol Evol (2012) 0.99
Fine-scale maps of recombination rates and hotspots in the mouse genome. Genetics (2012) 0.99
Critical assessment of coalescent simulators in modeling recombination hotspots in genomic sequences. BMC Bioinformatics (2014) 0.99
PRDM9 marks the spot. Nat Genet (2010) 0.98
What drives recombination hotspots to repeat DNA in humans? Philos Trans R Soc Lond B Biol Sci (2010) 0.98
High diversity at PRDM9 in chimpanzees and bonobos. PLoS One (2012) 0.98
A model-based analysis of GC-biased gene conversion in the human and chimpanzee genomes. PLoS Genet (2013) 0.97
A population genetics model with recombination hotspots that are heterogeneous across the population. Proc Natl Acad Sci U S A (2007) 0.97
Transmission distortion affecting human noncrossover but not crossover recombination: a hidden source of meiotic drive. PLoS Genet (2014) 0.96
Genetic linkage map of a wild genome: genomic structure, recombination and sexual dimorphism in bighorn sheep. BMC Genomics (2010) 0.95
Chromosomal G + C content evolution in yeasts: systematic interspecies differences, and GC-poor troughs at centromeres. Genome Biol Evol (2010) 0.95
The transcript-centric mutations in human genomes. Genomics Proteomics Bioinformatics (2012) 0.95
Evolution of the genomic recombination rate in murid rodents. Genetics (2010) 0.95
Estimation of fine-scale recombination intensity variation in the white-echinus interval of D. melanogaster. J Mol Evol (2009) 0.95
Sites of strong Rec12/Spo11 binding in the fission yeast genome are associated with meiotic recombination and with centromeres. Chromosoma (2008) 0.94
GC content and recombination: reassessing the causal effects for the Saccharomyces cerevisiae genome. Genetics (2009) 0.94
Meiotic crossover hotspots contained in haplotype block boundaries of the mouse genome. Proc Natl Acad Sci U S A (2007) 0.93
Fine haplotype structure of a chromosome 17 region in the laboratory and wild mouse. Genetics (2008) 0.93
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Principal components analysis corrects for stratification in genome-wide association studies. Nat Genet (2006) 115.71
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
A framework for variation discovery and genotyping using next-generation DNA sequencing data. Nat Genet (2011) 59.36
PGC-1alpha-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nat Genet (2003) 53.59
A new multipoint method for genome-wide association studies by imputation of genotypes. Nat Genet (2007) 52.68
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
Population structure and eigenanalysis. PLoS Genet (2006) 37.21
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
The Cancer Cell Line Encyclopedia enables predictive modelling of anticancer drug sensitivity. Nature (2012) 31.78
A flexible and accurate genotype imputation method for the next generation of genome-wide association studies. PLoS Genet (2009) 30.09
Somatic mutations affect key pathways in lung adenocarcinoma. Nature (2008) 30.02
Biological, clinical and population relevance of 95 loci for blood lipids. Nature (2010) 28.21
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
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
Initial genome sequencing and analysis of multiple myeloma. Nature (2011) 17.28
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
Risk alleles for multiple sclerosis identified by a genomewide study. N Engl J Med (2007) 17.06
The fine-scale structure of recombination rate variation in the human genome. Science (2004) 17.05
Twelve type 2 diabetes susceptibility loci identified through large-scale association analysis. Nat Genet (2010) 16.96
The mutational landscape of head and neck squamous cell carcinoma. Science (2011) 16.88
Characterizing the cancer genome in lung adenocarcinoma. Nature (2007) 16.48
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
Common deletion polymorphisms in the human genome. Nat Genet (2006) 15.66
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
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
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
The genomic complexity of primary human prostate cancer. Nature (2011) 14.06
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
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
A landscape of driver mutations in melanoma. Cell (2012) 12.61
Genome-wide association scan in women with systemic lupus erythematosus identifies susceptibility variants in ITGAM, PXK, KIAA1542 and other loci. Nat Genet (2008) 12.51
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
TRAF1-C5 as a risk locus for rheumatoid arthritis--a genomewide study. N Engl J Med (2007) 12.24
Prepublication data sharing. Nature (2009) 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