Published in Nat Genet on June 06, 2004
A haplotype map of the human genome. Nature (2005) 105.70
A map of recent positive selection in the human genome. PLoS Biol (2006) 29.19
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
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
Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet (2005) 7.60
African genetic diversity: implications for human demographic history, modern human origins, and complex disease mapping. Annu Rev Genomics Hum Genet (2008) 6.06
A high-resolution single nucleotide polymorphism genetic map of the mouse genome. PLoS Biol (2006) 4.57
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
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Approximating the coalescent with recombination. Philos Trans R Soc Lond B Biol Sci (2005) 3.66
Perspectives on human genetic variation from the HapMap Project. PLoS Genet (2005) 2.91
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
Genetic analysis of completely sequenced disease-associated MHC haplotypes identifies shuffling of segments in recent human history. PLoS Genet (2006) 2.80
Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54
Genome-wide association study identifies two susceptibility loci for osteosarcoma. Nat Genet (2013) 2.21
The scale of mutational variation in the murid genome. Genome Res (2005) 1.95
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
Genome-wide association study identifies multiple risk loci for chronic lymphocytic leukemia. Nat Genet (2013) 1.85
Genetic evidence for archaic admixture in Africa. Proc Natl Acad Sci U S A (2011) 1.83
Live hot, die young: transmission distortion in recombination hotspots. PLoS Genet (2007) 1.80
Multiple origins of knockdown resistance mutations in the Afrotropical mosquito vector Anopheles gambiae. PLoS One (2007) 1.79
Comprehensive analysis of APOE and selected proximate markers for late-onset Alzheimer's disease: patterns of linkage disequilibrium and disease/marker association. Genomics (2007) 1.78
A comparison of linkage disequilibrium patterns and estimated population recombination rates across multiple populations. Am J Hum Genet (2005) 1.75
Meta-analysis identifies four new loci associated with testicular germ cell tumor. Nat Genet (2013) 1.74
How homologous recombination generates a mutable genome. Hum Genomics (2005) 1.67
A discrete class of intergenic DNA dictates meiotic DNA break hotspots in fission yeast. PLoS Genet (2007) 1.64
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
Hotspots of homologous recombination in the human genome: not all homologous sequences are equal. Genome Biol (2004) 1.51
Bayesian inference of fine-scale recombination rates using population genomic data. Philos Trans R Soc Lond B Biol Sci (2008) 1.47
High-resolution recombination patterns in a region of human chromosome 21 measured by sperm typing. PLoS Genet (2006) 1.43
A third-generation microsatellite-based linkage map of the honey bee, Apis mellifera, and its comparison with the sequence-based physical map. Genome Biol (2007) 1.42
Variation resources at UC Santa Cruz. Nucleic Acids Res (2006) 1.42
Genome-wide association study identifies multiple susceptibility loci for diffuse large B cell lymphoma. Nat Genet (2014) 1.41
Genome-wide association study identifies multiple susceptibility loci for pancreatic cancer. Nat Genet (2014) 1.41
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
Viral serotype and the transgene sequence influence overlapping adeno-associated viral (AAV) vector-mediated gene transfer in skeletal muscle. J Gene Med (2006) 1.36
Fast and accurate estimation of the population-scaled mutation rate, theta, from microsatellite genotype data. Genetics (2007) 1.32
Evidence for large inversion polymorphisms in the human genome from HapMap data. Genome Res (2006) 1.29
Genetic origins of lactase persistence and the spread of pastoralism in Africa. Am J Hum Genet (2014) 1.27
An accurate sequentially Markov conditional sampling distribution for the coalescent with recombination. Genetics (2011) 1.27
A comparison of three estimators of the population-scaled recombination rate: accuracy and robustness. Genetics (2005) 1.27
Epigenetics and phenotypic variation in mammals. Mamm Genome (2006) 1.26
Genetically indistinguishable SNPs and their influence on inferring the location of disease-associated variants. Genome Res (2005) 1.25
Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21. Genome Res (2005) 1.20
Segmental duplications and gene conversion: Human luteinizing hormone/chorionic gonadotropin beta gene cluster. Genome Res (2005) 1.19
Large-scale recombination rate patterns are conserved among human populations. Genome Res (2005) 1.17
Fine mapping of a region of chromosome 11q13 reveals multiple independent loci associated with risk of prostate cancer. Hum Mol Genet (2011) 1.17
Positive selection can create false hotspots of recombination. Genetics (2005) 1.15
Genetic control of X chromosome inactivation in mice: definition of the Xce candidate interval. Genetics (2006) 1.14
Genome-wide analyses of recombination prone regions predict role of DNA structural motif in recombination. PLoS One (2009) 1.14
Human imprinted chromosomal regions are historical hot-spots of recombination. PLoS Genet (2006) 1.12
The evolution and genomic landscape of CGB1 and CGB2 genes. Mol Cell Endocrinol (2006) 1.10
Prospects and pitfalls in whole genome association studies. Philos Trans R Soc Lond B Biol Sci (2005) 1.09
Estimating recombination rates from single-nucleotide polymorphisms using summary statistics. Genetics (2006) 1.09
Variation in estimated recombination rates across human populations. Hum Genet (2007) 1.09
Imputation and subset-based association analysis across different cancer types identifies multiple independent risk loci in the TERT-CLPTM1L region on chromosome 5p15.33. Hum Mol Genet (2014) 1.09
Genetic variation in Native Americans, inferred from Latino SNP and resequencing data. Mol Biol Evol (2011) 1.08
The chromosome 2p21 region harbors a complex genetic architecture for association with risk for renal cell carcinoma. Hum Mol Genet (2011) 1.08
Genomic signatures reveal new evidences for selection of important traits in domestic cattle. Mol Biol Evol (2014) 1.07
Genomic confirmation of hybridisation and recent inbreeding in a vector-isolated Leishmania population. PLoS Genet (2014) 1.06
Signatures of selection and gene conversion associated with human color vision variation. Am J Hum Genet (2004) 1.06
Modified Hudson-Kreitman-Aguade test and two-dimensional evaluation of neutrality tests. Genetics (2006) 1.06
A principled approach to deriving approximate conditional sampling distributions in population genetics models with recombination. Genetics (2010) 1.06
Joint estimation of gene conversion rates and mean conversion tract lengths from population SNP data. Bioinformatics (2009) 1.06
Detecting selective sweeps: a new approach based on hidden markov models. Genetics (2009) 1.05
A new method for detecting human recombination hotspots and its applications to the HapMap ENCODE data. Am J Hum Genet (2006) 1.04
Relative influences of crossing over and gene conversion on the pattern of linkage disequilibrium in Arabidopsis thaliana. Genetics (2005) 1.02
Genomic tools for evolution and conservation in the chimpanzee: Pan troglodytes ellioti is a genetically distinct population. PLoS Genet (2012) 1.00
Population genomic inference of recombination rates and hotspots. Proc Natl Acad Sci U S A (2009) 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
The major histocompatibility complex (Mhc) class IIB region has greater genomic structural flexibility and diversity in the quail than the chicken. BMC Genomics (2006) 0.95
Contrasting methods of quantifying fine structure of human recombination. Annu Rev Genomics Hum Genet (2010) 0.95
Diversity and evolution of 11 innate immune genes in Bos taurus taurus and Bos taurus indicus cattle. Proc Natl Acad Sci U S A (2009) 0.93
A model-based approach to selection of tag SNPs. BMC Bioinformatics (2006) 0.92
Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol (2010) 0.92
A combination of cis and trans control can solve the hotspot conversion paradox. Genetics (2008) 0.92
Estimation of recombination rate and detection of recombination hotspots from dense single-nucleotide polymorphism trio data. Genetics (2006) 0.91
The effects of genotype-dependent recombination, and transmission asymmetry, on linkage disequilibrium. Genetics (2005) 0.91
A new method to reconstruct recombination events at a genomic scale. PLoS Comput Biol (2010) 0.90
Complex signatures of locus-specific selective pressures and gene conversion on Human Growth Hormone/Chorionic Somatomammotropin genes. Hum Mutat (2008) 0.90
Genetic crossovers are predicted accurately by the computed human recombination map. PLoS Genet (2010) 0.90
Analysis of meiotic recombination in 22q11.2, a region that frequently undergoes deletions and duplications. BMC Med Genet (2007) 0.90
A genome-wide Asian genetic map and ethnic comparison: the GENDISCAN study. BMC Genomics (2008) 0.90
Interferon gamma polymorphisms and their interaction with smoking are associated with lung function. Hum Genet (2006) 0.89
An analysis of genetic variation across the MBL2 locus in Dutch Caucasians indicates that 3' haplotypes could modify circulating levels of mannose-binding lectin. Hum Genet (2005) 0.88
Population demographic history can cause the appearance of recombination hotspots. Am J Hum Genet (2012) 0.87
Resequencing PNMT in European hypertensive and normotensive individuals: no common susceptibilily variants for hypertension and purifying selection on intron 1. BMC Med Genet (2007) 0.87
Meta-analysis of genome-wide association studies identifies multiple lung cancer susceptibility loci in never-smoking Asian women. Hum Mol Genet (2016) 0.87
N-acetyltransferase 8, a positional candidate for blood pressure and renal regulation: resequencing, association and in silico study. BMC Med Genet (2008) 0.87
Inference from samples of DNA sequences using a two-locus model. J Comput Biol (2011) 0.86
Population differentiation and species formation in the deep sea: the potential role of environmental gradients and depth. PLoS One (2013) 0.86
The extent and importance of intragenic recombination. Hum Genomics (2004) 0.86
Comprehensive genetic variant discovery in the surfactant protein B gene. Pediatr Res (2007) 0.85
Different selective pressures shape the molecular evolution of color vision in chimpanzee and human populations. Mol Biol Evol (2008) 0.85
Recombination as a mechanism for sporadic mutation in the surfactant protein-C gene. Pediatr Pulmonol (2008) 0.84
Genome-wide association study identifies three common variants associated with serologic response to vitamin E supplementation in men. J Nutr (2012) 0.83
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
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
Targeted capture and massively parallel sequencing of 12 human exomes. Nature (2009) 33.96
Exome sequencing identifies the cause of a mendelian disorder. Nat Genet (2009) 32.06
Mapping and sequencing of structural variation from eight human genomes. Nature (2008) 30.28
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
Global quantification of mammalian gene expression control. Nature (2011) 22.36
Selecting a maximally informative set of single-nucleotide polymorphisms for association analyses using linkage disequilibrium. Am J Hum Genet (2003) 21.52
Six new loci associated with blood low-density lipoprotein cholesterol, high-density lipoprotein cholesterol or triglycerides in humans. Nat Genet (2008) 20.73
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
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
Understanding mechanisms underlying human gene expression variation with RNA sequencing. Nature (2010) 16.86
Imputation-based analysis of association studies: candidate regions and quantitative traits. PLoS Genet (2007) 15.55
Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations. Nature (2012) 14.76
Exome sequencing as a tool for Mendelian disease gene discovery. Nat Rev Genet (2011) 14.29
Genes mirror geography within Europe. Nature (2008) 14.23
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet (2010) 12.63
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Exome sequencing in sporadic autism spectrum disorders identifies severe de novo mutations. Nat Genet (2011) 11.94
Traces of human migrations in Helicobacter pylori populations. Science (2003) 11.92
Fast and accurate genotype imputation in genome-wide association studies through pre-phasing. Nat Genet (2012) 11.29
Inferring weak population structure with the assistance of sample group information. Mol Ecol Resour (2009) 10.81
High-quality binary protein interaction map of the yeast interactome network. Science (2008) 10.65
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
Automating sequence-based detection and genotyping of SNPs from diploid samples. Nat Genet (2006) 9.04
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
Genotype imputation with thousands of genomes. G3 (Bethesda) (2011) 8.77
Effect of VKORC1 haplotypes on transcriptional regulation and warfarin dose. N Engl J Med (2005) 8.77
Interpreting principal component analyses of spatial population genetic variation. Nat Genet (2008) 8.49
A mutation in APP protects against Alzheimer's disease and age-related cognitive decline. Nature (2012) 8.10
The Genomes of Oryza sativa: a history of duplications. PLoS Biol (2005) 7.67
Genome-wide association analysis identifies 13 new risk loci for schizophrenia. Nat Genet (2013) 7.44
Mapping complex disease loci in whole-genome association studies. Nature (2004) 7.31
Concept, design and implementation of a cardiovascular gene-centric 50 k SNP array for large-scale genomic association studies. PLoS One (2008) 7.16
Population history and natural selection shape patterns of genetic variation in 132 genes. PLoS Biol (2004) 7.11
Population analysis of large copy number variants and hotspots of human genetic disease. Am J Hum Genet (2009) 6.79
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
Massively parallel exon capture and library-free resequencing across 16 genomes. Nat Methods (2009) 6.36
Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders. Science (2012) 6.21
DNase I sensitivity QTLs are a major determinant of human expression variation. Nature (2012) 6.17
miRDeep2 accurately identifies known and hundreds of novel microRNA genes in seven animal clades. Nucleic Acids Res (2011) 5.83
Optimal unified approach for rare-variant association testing with application to small-sample case-control whole-exome sequencing studies. Am J Hum Genet (2012) 5.48
Loss-of-function mutations in APOC3, triglycerides, and coronary disease. N Engl J Med (2014) 5.47
Additional SNPs and linkage-disequilibrium analyses are necessary for whole-genome association studies in humans. Nat Genet (2003) 5.30
The oyster genome reveals stress adaptation and complexity of shell formation. Nature (2012) 5.30
Inactivating mutations in NPC1L1 and protection from coronary heart disease. N Engl J Med (2014) 4.94
Inference of population structure using dense haplotype data. PLoS Genet (2012) 4.87
Quality control and quality assurance in genotypic data for genome-wide association studies. Genet Epidemiol (2010) 4.83
Genomic regions exhibiting positive selection identified from dense genotype data. Genome Res (2005) 4.81
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Systematic assessment of copy number variant detection via genome-wide SNP genotyping. Nat Genet (2008) 4.53
Single-nucleotide evolutionary constraint scores highlight disease-causing mutations. Nat Methods (2010) 4.51
Copy number variation detection and genotyping from exome sequence data. Genome Res (2012) 4.44
Completing the map of human genetic variation. Nature (2007) 4.38
Common missense variant in the glucokinase regulatory protein gene is associated with increased plasma triglyceride and C-reactive protein but lower fasting glucose concentrations. Diabetes (2008) 4.20
Actionable, pathogenic incidental findings in 1,000 participants' exomes. Am J Hum Genet (2013) 4.06
A genome-wide scan for common genetic variants with a large influence on warfarin maintenance dose. Blood (2008) 4.02
HDAC-6 interacts with and deacetylates tubulin and microtubules in vivo. EMBO J (2003) 3.96
Pattern of sequence variation across 213 environmental response genes. Genome Res (2004) 3.93
Haplotype diversity across 100 candidate genes for inflammation, lipid metabolism, and blood pressure regulation in two populations. Am J Hum Genet (2004) 3.91
Mutational and selective effects on copy-number variants in the human genome. Nat Genet (2007) 3.82
Comprehensive identification and characterization of diallelic insertion-deletion polymorphisms in 330 human candidate genes. Hum Mol Genet (2004) 3.73
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
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Calmodulin kinase II-mediated sarcoplasmic reticulum Ca2+ leak promotes atrial fibrillation in mice. J Clin Invest (2009) 3.45
Genetic ancestry in lung-function predictions. N Engl J Med (2010) 3.30
Massively parallel sequencing and rare disease. Hum Mol Genet (2010) 3.28
Association of polymorphisms in the CRP gene with circulating C-reactive protein levels and cardiovascular events. JAMA (2006) 3.26
Novel loci for adiponectin levels and their influence on type 2 diabetes and metabolic traits: a multi-ethnic meta-analysis of 45,891 individuals. PLoS Genet (2012) 3.21
Genetic variants associated with warfarin dose in African-American individuals: a genome-wide association study. Lancet (2013) 3.21
Assigning African elephant DNA to geographic region of origin: applications to the ivory trade. Proc Natl Acad Sci U S A (2004) 3.17
Somatic mutations in cerebral cortical malformations. N Engl J Med (2014) 3.13
The Centers for Mendelian Genomics: a new large-scale initiative to identify the genes underlying rare Mendelian conditions. Am J Med Genet A (2012) 3.12
De novo rates and selection of large copy number variation. Genome Res (2010) 3.08
Phenotypic predictors of response to simvastatin therapy among African-Americans and Caucasians: the Cholesterol and Pharmacogenetics (CAP) Study. Am J Cardiol (2006) 2.94