Published in Nat Genet on September 01, 2008
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Origins and functional impact of copy number variation in the human genome. Nature (2009) 23.63
Mechanisms of change in gene copy number. Nat Rev Genet (2009) 9.01
PRDM9 is a major determinant of meiotic recombination hotspots in humans and mice. Science (2009) 8.72
Copy number variation in human health, disease, and evolution. Annu Rev Genomics Hum Genet (2009) 7.64
Drive against hotspot motifs in primates implicates the PRDM9 gene in meiotic recombination. Science (2009) 7.35
Nucleotide-resolution analysis of structural variants using BreakSeq and a breakpoint library. Nat Biotechnol (2009) 5.13
Fine-scale recombination rate differences between sexes, populations and individuals. Nature (2010) 4.74
Genome-wide mapping and assembly of structural variant breakpoints in the mouse genome. Genome Res (2010) 4.22
Genome-wide single-cell analysis of recombination activity and de novo mutation rates in human sperm. Cell (2012) 3.52
Mutation spectrum revealed by breakpoint sequencing of human germline CNVs. Nat Genet (2010) 3.52
Distinct histone modifications define initiation and repair of meiotic recombination in the mouse. EMBO J (2009) 3.47
PRDM9 variation strongly influences recombination hot-spot activity and meiotic instability in humans. Nat Genet (2010) 3.33
A human genome structural variation sequencing resource reveals insights into mutational mechanisms. Cell (2010) 3.22
The landscape of recombination in African Americans. Nature (2011) 3.06
A fine-scale chimpanzee genetic map from population sequencing. Science (2012) 2.83
Genome-wide patterns of genetic variation in worldwide Arabidopsis thaliana accessions from the RegMap panel. Nat Genet (2012) 2.78
The many landscapes of recombination in Drosophila melanogaster. PLoS Genet (2012) 2.68
Mechanisms for recurrent and complex human genomic rearrangements. Curr Opin Genet Dev (2012) 2.67
Trans-regulation of mouse meiotic recombination hotspots by Rcr1. PLoS Biol (2009) 2.66
Genome-wide analysis reveals novel molecular features of mouse recombination hotspots. Nature (2011) 2.61
Transcriptome-guided characterization of genomic rearrangements in a breast cancer cell line. Proc Natl Acad Sci U S A (2009) 2.57
Mammalian recombination hot spots: properties, control and evolution. Nat Rev Genet (2010) 2.54
Differential relationship of DNA replication timing to different forms of human mutation and variation. Am J Hum Genet (2012) 2.33
Genome-wide control of the distribution of meiotic recombination. PLoS Biol (2009) 2.31
Probing meiotic recombination and aneuploidy of single sperm cells by whole-genome sequencing. Science (2012) 2.14
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
Health and population effects of rare gene knockouts in adult humans with related parents. Science (2016) 1.90
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res (2013) 1.83
Genome destabilization by homologous recombination in the germ line. Nat Rev Mol Cell Biol (2010) 1.76
Genome-wide association studies in mice. Nat Rev Genet (2012) 1.75
Mouse PRDM9 DNA-binding specificity determines sites of histone H3 lysine 4 trimethylation for initiation of meiotic recombination. PLoS Biol (2011) 1.73
The recombination landscape of the zebra finch Taeniopygia guttata genome. Genome Res (2010) 1.72
Extensive linkage disequilibrium and parallel adaptive divergence across threespine stickleback genomes. Philos Trans R Soc Lond B Biol Sci (2012) 1.71
Structures and molecular mechanisms for common 15q13.3 microduplications involving CHRNA7: benign or pathological? Hum Mutat (2010) 1.66
A high density recombination map of the pig reveals a correlation between sex-specific recombination and GC content. BMC Genomics (2012) 1.65
Death of PRDM9 coincides with stabilization of the recombination landscape in the dog genome. Genome Res (2011) 1.62
On the sequence-directed nature of human gene mutation: the role of genomic architecture and the local DNA sequence environment in mediating gene mutations underlying human inherited disease. Hum Mutat (2011) 1.53
Identification of uncommon recurrent Potocki-Lupski syndrome-associated duplications and the distribution of rearrangement types and mechanisms in PTLS. Am J Hum Genet (2010) 1.49
Frequency of nonallelic homologous recombination is correlated with length of homology: evidence that ectopic synapsis precedes ectopic crossing-over. Am J Hum Genet (2011) 1.43
APOL1 variants and kidney disease in people of recent African ancestry. Nat Rev Nephrol (2013) 1.43
Maps of open chromatin guide the functional follow-up of genome-wide association signals: application to hematological traits. PLoS Genet (2011) 1.41
Variation in human recombination rates and its genetic determinants. PLoS One (2011) 1.39
Ongoing GC-biased evolution is widespread in the human genome and enriched near recombination hot spots. Genome Biol Evol (2011) 1.36
Genetic recombination is targeted towards gene promoter regions in dogs. PLoS Genet (2013) 1.35
Computational analysis of human adenovirus type 22 provides evidence for recombination among species D human adenoviruses in the penton base gene. J Virol (2009) 1.32
Ontogenetic de novo copy number variations (CNVs) as a source of genetic individuality: studies on two families with MZD twins for schizophrenia. PLoS One (2011) 1.28
High recombination rates and hotspots in a Plasmodium falciparum genetic cross. Genome Biol (2011) 1.27
Copy number variation, chromosome rearrangement, and their association with recombination during avian evolution. Genome Res (2010) 1.26
The rise and fall of a human recombination hot spot. Nat Genet (2009) 1.25
Copy number gain at Xp22.31 includes complex duplication rearrangements and recurrent triplications. Hum Mol Genet (2011) 1.25
Characterizing complex structural variation in germline and somatic genomes. Trends Genet (2011) 1.25
Low-complexity regions in Plasmodium falciparum: missing links in the evolution of an extreme genome. Mol Biol Evol (2010) 1.23
NAHR-mediated copy-number variants in a clinical population: mechanistic insights into both genomic disorders and Mendelizing traits. Genome Res (2013) 1.21
Mechanisms of copy number variation and hybrid gene formation in the KIR immune gene complex. Hum Mol Genet (2009) 1.21
Loss of epigenetic silencing in tumors preferentially affects primate-specific retroelements. Gene (2009) 1.19
A comprehensive linkage map of the dog genome. Genetics (2009) 1.17
Meiosis: making a break for it. Curr Opin Cell Biol (2010) 1.16
Recombination rate variation in closely related species. Heredity (Edinb) (2011) 1.16
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
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
The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles. Am J Hum Genet (2014) 1.14
Deficiency in DNA methylation increases meiotic crossover rates in euchromatic but not in heterochromatic regions in Arabidopsis. Proc Natl Acad Sci U S A (2012) 1.13
Mechanism and regulation of meiotic recombination initiation. Cold Spring Harb Perspect Biol (2014) 1.13
The genomic landscape of meiotic crossovers and gene conversions in Arabidopsis thaliana. Elife (2013) 1.12
xnd-1 regulates the global recombination landscape in Caenorhabditis elegans. Nature (2010) 1.12
Molecular evolution of genes in avian genomes. Genome Biol (2010) 1.12
Genetic analysis of genome-scale recombination rate evolution in house mice. PLoS Genet (2011) 1.12
Gene conversion between the X chromosome and the male-specific region of the Y chromosome at a translocation hotspot. Am J Hum Genet (2009) 1.12
Alu repeats increase local recombination rates. BMC Genomics (2009) 1.11
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
Even small SNP clusters are non-randomly distributed: is this evidence of mutational non-independence? Proc Biol Sci (2010) 1.10
Rare allelic forms of PRDM9 associated with childhood leukemogenesis. Genome Res (2012) 1.09
Recombination spot identification Based on gapped k-mers. Sci Rep (2016) 1.09
Discrete DNA sites regulate global distribution of meiotic recombination. Trends Genet (2010) 1.08
DNA binding specificities of the long zinc-finger recombination protein PRDM9. Genome Biol (2013) 1.08
Novel nucleotide sequence motifs that produce hotspots of meiotic recombination in Schizosaccharomyces pombe. Genetics (2009) 1.07
Novel origins of copy number variation in the dog genome. Genome Biol (2012) 1.06
Mechanisms underlying structural variant formation in genomic disorders. Nat Rev Genet (2016) 1.06
New and old ways to control meiotic recombination. Trends Genet (2011) 1.04
Nucleosomal organization of replication origins and meiotic recombination hotspots in fission yeast. EMBO J (2011) 1.04
Recombination regulator PRDM9 influences the instability of its own coding sequence in humans. Proc Natl Acad Sci U S A (2012) 1.02
A Whole-Chromosome Analysis of Meiotic Recombination in Drosophila melanogaster. G3 (Bethesda) (2012) 1.01
PRDM9 marks the spot. Nat Genet (2010) 0.98
Molecular analysis of a deletion hotspot in the NRXN1 region reveals the involvement of short inverted repeats in deletion CNVs. Am J Hum Genet (2013) 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
Patterns of recombination activity on mouse chromosome 11 revealed by high resolution mapping. PLoS One (2010) 0.96
Recombinational landscape of porcine X chromosome and individual variation in female meiotic recombination associated with haplotypes of Chinese pigs. BMC Genomics (2010) 0.96
Integrated consensus genetic and physical maps of flax (Linum usitatissimum L.). Theor Appl Genet (2012) 0.96
Diversity of Prdm9 zinc finger array in wild mice unravels new facets of the evolutionary turnover of this coding minisatellite. PLoS One (2014) 0.95
The (r)evolution of SINE versus LINE distributions in primate genomes: sex chromosomes are important. Genome Res (2010) 0.95
PRDM9 points the zinc finger at meiotic recombination hotspots. Genome Biol (2010) 0.94
Important characteristics of sequence-specific recombination hotspots in Schizosaccharomyces pombe. Genetics (2010) 0.94
Anatomy of mouse recombination hot spots. Nucleic Acids Res (2010) 0.93
Fine characterisation of a recombination hotspot at the DPY19L2 locus and resolution of the paradoxical excess of duplications over deletions in the general population. PLoS Genet (2013) 0.92
Detecting sequence polymorphisms associated with meiotic recombination hotspots in the human genome. Genome Biol (2010) 0.92
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
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
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
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
The variant call format and VCFtools. Bioinformatics (2011) 25.88
Genome-wide detection and characterization of positive selection in human populations. Nature (2007) 17.27
The fine-scale structure of recombination rate variation in the human genome. Science (2004) 17.05
Replicating genotype-phenotype associations. Nature (2007) 16.11
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
Genes mirror geography within Europe. Nature (2008) 14.23
New models of collaboration in genome-wide association studies: the Genetic Association Information Network. Nat Genet (2007) 13.76
Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature (2011) 13.23
A global reference for human genetic variation. Nature (2015) 12.85
Association scan of 14,500 nonsynonymous SNPs in four diseases identifies autoimmunity variants. Nat Genet (2007) 12.62
Mapping copy number variation by population-scale genome sequencing. Nature (2011) 12.55
A comparison of phasing algorithms for trios and unrelated individuals. Am J Hum Genet (2006) 12.45
Genome-wide association study of CNVs in 16,000 cases of eight common diseases and 3,000 shared controls. Nature (2010) 12.27
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
A genome-wide association study identifies new psoriasis susceptibility loci and an interaction between HLA-C and ERAP1. Nat Genet (2010) 8.48
Comparison of fine-scale recombination rates in humans and chimpanzees. Science (2005) 7.86
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
Designing genome-wide association studies: sample size, power, imputation, and the choice of genotyping chip. PLoS Genet (2009) 6.61
Germline mutations affecting the proofreading domains of POLE and POLD1 predispose to colorectal adenomas and carcinomas. Nat Genet (2012) 6.25
De novo assembly and genotyping of variants using colored de Bruijn graphs. Nat Genet (2012) 5.61
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
Genome-wide patterns of population structure and admixture in West Africans and African Americans. Proc Natl Acad Sci U S A (2009) 5.39
Differential confounding of rare and common variants in spatially structured populations. Nat Genet (2012) 5.28
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
Genome-wide SNP and haplotype analyses reveal a rich history underlying dog domestication. Nature (2010) 4.64
Analysis of immune-related loci identifies 48 new susceptibility variants for multiple sclerosis. Nat Genet (2013) 4.62
Genome-wide association study of ulcerative colitis identifies three new susceptibility loci, including the HNF4A region. Nat Genet (2009) 4.61
Common variants near ATM are associated with glycemic response to metformin in type 2 diabetes. Nat Genet (2010) 4.42
Genome-wide and fine-resolution association analysis of malaria in West Africa. Nat Genet (2009) 4.30
Classic selective sweeps were rare in recent human evolution. Science (2011) 4.09
The influence of recombination on human genetic diversity. PLoS Genet (2006) 4.04
A simple genetic architecture underlies morphological variation in dogs. PLoS Biol (2010) 3.46
Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nat Genet (2012) 3.40
Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet (2010) 3.34
Human recombination hot spots hidden in regions of strong marker association. Nat Genet (2005) 3.33
Bayesian refinement of association signals for 14 loci in 3 common diseases. Nat Genet (2012) 3.31
Evolutionary dynamics of Staphylococcus aureus during progression from carriage to disease. Proc Natl Acad Sci U S A (2012) 3.29
Human genome sequence variation and the influence of gene history, mutation and recombination. Nat Genet (2002) 3.24
Colloquium paper: genome-wide patterns of population structure and admixture among Hispanic/Latino populations. Proc Natl Acad Sci U S A (2010) 3.20
Identification of multiple risk variants for ankylosing spondylitis through high-density genotyping of immune-related loci. Nat Genet (2013) 2.87
A fine-scale chimpanzee genetic map from population sequencing. Science (2012) 2.83
Genome-wide patterns of genetic variation in worldwide Arabidopsis thaliana accessions from the RegMap panel. Nat Genet (2012) 2.78
Mosaic PPM1D mutations are associated with predisposition to breast and ovarian cancer. Nature (2012) 2.66
Inferring human colonization history using a copying model. PLoS Genet (2008) 2.64
HAPGEN2: simulation of multiple disease SNPs. Bioinformatics (2011) 2.58
Complex population structure in African village dogs and its implications for inferring dog domestication history. Proc Natl Acad Sci U S A (2009) 2.42
Multiple instances of ancient balancing selection shared between humans and chimpanzees. Science (2013) 2.32
HLA*IMP--an integrated framework for imputing classical HLA alleles from SNP genotypes. Bioinformatics (2011) 2.21
The origin, evolution, and functional impact of short insertion-deletion variants identified in 179 human genomes. Genome Res (2013) 1.83
A genome-wide metabolic QTL analysis in Europeans implicates two loci shaped by recent positive selection. PLoS Genet (2011) 1.83
Recombination rate estimation in the presence of hotspots. Genome Res (2007) 1.83
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation. Am J Hum Genet (2012) 1.75
Is mate choice in humans MHC-dependent? PLoS Genet (2008) 1.66
Including known covariates can reduce power to detect genetic effects in case-control studies. Nat Genet (2012) 1.66
Recombination and population structure in Salmonella enterica. PLoS Genet (2011) 1.61
Human metabolic profiles are stably controlled by genetic and environmental variation. Mol Syst Biol (2011) 1.60
Application of coalescent methods to reveal fine-scale rate variation and recombination hotspots. Genetics (2004) 1.59
People of the British Isles: preliminary analysis of genotypes and surnames in a UK-control population. Eur J Hum Genet (2011) 1.58