Published in Nature on October 20, 2005
A second generation human haplotype map of over 3.1 million SNPs. Nature (2007) 85.39
Most rare missense alleles are deleterious in humans: implications for complex disease and association studies. Am J Hum Genet (2007) 10.92
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet (2006) 9.56
A census of human transcription factors: function, expression and evolution. Nat Rev Genet (2009) 9.19
Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet (2008) 8.92
A systematic, large-scale resequencing screen of X-chromosome coding exons in mental retardation. Nat Genet (2009) 8.30
Guidelines for investigating causality of sequence variants in human disease. Nature (2014) 7.30
Genetic variation in an individual human exome. PLoS Genet (2008) 6.68
Ascertainment bias in studies of human genome-wide polymorphism. Genome Res (2005) 6.63
Proportionally more deleterious genetic variation in European than in African populations. Nature (2008) 6.61
Constructing genomic maps of positive selection in humans: where do we go from here? Genome Res (2009) 5.88
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44
Patterns of cis regulatory variation in diverse human populations. PLoS Genet (2012) 5.28
Localizing recent adaptive evolution in the human genome. PLoS Genet (2007) 5.11
Characterising and predicting haploinsufficiency in the human genome. PLoS Genet (2010) 4.85
Patterns of positive selection in six Mammalian genomes. PLoS Genet (2008) 4.69
High-throughput gene and SNP discovery in Eucalyptus grandis, an uncharacterized genome. BMC Genomics (2008) 4.62
Recent and ongoing selection in the human genome. Nat Rev Genet (2007) 4.62
How reliable are empirical genomic scans for selective sweeps? Genome Res (2006) 4.14
Exome sequencing and the genetic basis of complex traits. Nat Genet (2012) 4.11
Pervasive hitchhiking at coding and regulatory sites in humans. PLoS Genet (2009) 4.02
A framework for the interpretation of de novo mutation in human disease. Nat Genet (2014) 4.00
Exome sequencing identifies a spectrum of mutation frequencies in advanced and lethal prostate cancers. Proc Natl Acad Sci U S A (2011) 3.54
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
The role of geography in human adaptation. PLoS Genet (2009) 3.41
Human-specific loss of regulatory DNA and the evolution of human-specific traits. Nature (2011) 3.30
Pervasive natural selection in the Drosophila genome? PLoS Genet (2009) 3.27
Genomic islands of differentiation between house mouse subspecies. Genome Res (2006) 3.20
Recent acceleration of human adaptive evolution. Proc Natl Acad Sci U S A (2007) 3.13
Decanalization and the origin of complex disease. Nat Rev Genet (2009) 3.12
The evolution of mammalian gene families. PLoS One (2006) 3.04
Darwinian and demographic forces affecting human protein coding genes. Genome Res (2009) 3.01
From evolutionary genetics to human immunology: how selection shapes host defence genes. Nat Rev Genet (2009) 2.98
Great ape genetic diversity and population history. Nature (2013) 2.95
Novel genes derived from noncoding DNA in Drosophila melanogaster are frequently X-linked and exhibit testis-biased expression. Proc Natl Acad Sci U S A (2006) 2.84
Conservation of core gene expression in vertebrate tissues. J Biol (2009) 2.84
Widely distributed noncoding purifying selection in the human genome. Proc Natl Acad Sci U S A (2007) 2.71
A genome-wide survey of the prevalence and evolutionary forces acting on human nonsense SNPs. Am J Hum Genet (2009) 2.62
Identifying recent adaptations in large-scale genomic data. Cell (2013) 2.57
Genomic signatures of positive selection in humans and the limits of outlier approaches. Genome Res (2006) 2.56
Ascertainment biases in SNP chips affect measures of population divergence. Mol Biol Evol (2010) 2.56
Positive selection at the protein network periphery: evaluation in terms of structural constraints and cellular context. Proc Natl Acad Sci U S A (2007) 2.55
Natural selection on genes that underlie human disease susceptibility. Curr Biol (2008) 2.49
Targeted investigation of the Neandertal genome by array-based sequence capture. Science (2010) 2.49
Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals. Genome Res (2008) 2.46
Signatures of environmental genetic adaptation pinpoint pathogens as the main selective pressure through human evolution. PLoS Genet (2011) 2.44
Evolutionary dynamics of human Toll-like receptors and their different contributions to host defense. PLoS Genet (2009) 2.35
A practical genome scan for population-specific strong selective sweeps that have reached fixation. PLoS One (2007) 2.35
Plant domestication, a unique opportunity to identify the genetic basis of adaptation. Proc Natl Acad Sci U S A (2007) 2.31
Evolutionary constraint facilitates interpretation of genetic variation in resequenced human genomes. Genome Res (2010) 2.31
Population genetic inference from genomic sequence variation. Genome Res (2010) 2.29
Sequencing studies in human genetics: design and interpretation. Nat Rev Genet (2013) 2.27
Evolution in health and medicine Sackler colloquium: Genetic architecture of a complex trait and its implications for fitness and genome-wide association studies. Proc Natl Acad Sci U S A (2010) 2.27
Selecton 2007: advanced models for detecting positive and purifying selection using a Bayesian inference approach. Nucleic Acids Res (2007) 2.21
Estimating selection on nonsynonymous mutations. Genetics (2005) 2.19
Adaptations to climate-mediated selective pressures in humans. PLoS Genet (2011) 2.15
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
Genome-wide inference of natural selection on human transcription factor binding sites. Nat Genet (2013) 2.03
More genes underwent positive selection in chimpanzee evolution than in human evolution. Proc Natl Acad Sci U S A (2007) 2.00
Global analysis of alternative splicing differences between humans and chimpanzees. Genes Dev (2007) 2.00
Chromosomal redistribution of male-biased genes in mammalian evolution with two bursts of gene gain on the X chromosome. PLoS Biol (2010) 1.98
Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence. PLoS Genet (2009) 1.97
Selective sweep mapping of genes with large phenotypic effects. Genome Res (2005) 1.95
Reference-free population genomics from next-generation transcriptome data and the vertebrate-invertebrate gap. PLoS Genet (2013) 1.91
Efficient approximate Bayesian computation coupled with Markov chain Monte Carlo without likelihood. Genetics (2009) 1.90
Hotspots of biased nucleotide substitutions in human genes. PLoS Biol (2009) 1.89
Genomewide spatial correspondence between nonsynonymous divergence and neutral polymorphism reveals extensive adaptation in Drosophila. Genetics (2007) 1.89
The evolutionary conundrum of pathogen mimicry. Nat Rev Microbiol (2009) 1.87
Gene regulation in primates evolves under tissue-specific selection pressures. PLoS Genet (2008) 1.86
Genome-wide scans for footprints of natural selection. Philos Trans R Soc Lond B Biol Sci (2010) 1.84
Identification of the imprinted KLF14 transcription factor undergoing human-specific accelerated evolution. PLoS Genet (2007) 1.79
Genetic-linkage mapping of complex hereditary disorders to a whole-genome molecular-interaction network. Genome Res (2008) 1.71
The population genomics of a fast evolver: high levels of diversity, functional constraint, and molecular adaptation in the tunicate Ciona intestinalis. Genome Biol Evol (2012) 1.71
"Reverse ecology" and the power of population genomics. Evolution (2008) 1.69
Targets of balancing selection in the human genome. Mol Biol Evol (2009) 1.69
Explaining human uniqueness: genome interactions with environment, behaviour and culture. Nat Rev Genet (2008) 1.67
Prevalence of positive selection among nearly neutral amino acid replacements in Drosophila. Proc Natl Acad Sci U S A (2007) 1.63
Adaptive evolution of genes underlying schizophrenia. Proc Biol Sci (2007) 1.58
A large-scale rheumatoid arthritis genetic study identifies association at chromosome 9q33.2. PLoS Genet (2008) 1.53
Natural selection and the distribution of identity-by-descent in the human genome. Genetics (2010) 1.52
High rate of recent transposable element-induced adaptation in Drosophila melanogaster. PLoS Biol (2008) 1.52
Transcriptome profiling of human pre-implantation development. PLoS One (2009) 1.51
Natural selection and infectious disease in human populations. Nat Rev Genet (2014) 1.48
Pervasive positive selection on duplicated and nonduplicated vertebrate protein coding genes. Genome Res (2008) 1.45
Both noncoding and protein-coding RNAs contribute to gene expression evolution in the primate brain. Genome Biol Evol (2010) 1.45
Confounding between recombination and selection, and the Ped/Pop method for detecting selection. Genome Res (2008) 1.42
Fundamental concepts in genetics: genetics and the understanding of selection. Nat Rev Genet (2009) 1.41
Relaxed purifying selection and possibly high rate of adaptation in primate lineage-specific genes. Genome Biol Evol (2010) 1.40
Accelerated recruitment of new brain development genes into the human genome. PLoS Biol (2011) 1.39
Rapid sequence and expression divergence suggest selection for novel function in primate-specific KRAB-ZNF genes. Mol Biol Evol (2010) 1.38
Frequent adaptation and the McDonald-Kreitman test. Proc Natl Acad Sci U S A (2013) 1.37
The structure of common genetic variation in United States populations. Am J Hum Genet (2007) 1.35
Measuring the evolutionary rewiring of biological networks. PLoS Comput Biol (2011) 1.35
Strong purifying selection at synonymous sites in D. melanogaster. PLoS Genet (2013) 1.34
Standard and generalized McDonald-Kreitman test: a website to detect selection by comparing different classes of DNA sites. Nucleic Acids Res (2008) 1.34
Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome. Hum Genet (2006) 1.33
Functional protein divergence in the evolution of Homo sapiens. Genome Biol (2008) 1.32
Evolutionary genetic dissection of human interferons. J Exp Med (2011) 1.32
Widespread over-expression of the X chromosome in sterile F₁hybrid mice. PLoS Genet (2010) 1.32
Finding the missing heritability of complex diseases. Nature (2009) 67.95
The diploid genome sequence of an Asian individual. Nature (2008) 46.29
Genome sequence of the Brown Norway rat yields insights into mammalian evolution. Nature (2004) 24.40
Recent segmental duplications in the human genome. Science (2002) 21.30
The genome sequence of the malaria mosquito Anopheles gambiae. Science (2002) 20.36
Evolution of genes and genomes on the Drosophila phylogeny. Nature (2007) 18.01
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Evolutionary and biomedical insights from the rhesus macaque genome. Science (2007) 16.21
The sequence and de novo assembly of the giant panda genome. Nature (2009) 15.76
A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet (2004) 13.71
A metagenome-wide association study of gut microbiota in type 2 diabetes. Nature (2012) 11.68
Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. Nature (2007) 11.66
The genome of the African trypanosome Trypanosoma brucei. Science (2005) 11.48
Sequencing of 50 human exomes reveals adaptation to high altitude. Science (2010) 11.27
Bayes empirical bayes inference of amino acid sites under positive selection. Mol Biol Evol (2005) 11.26
A high-density admixture map for disease gene discovery in african americans. Am J Hum Genet (2004) 10.87
A comparison of whole-genome shotgun-derived mouse chromosome 16 and the human genome. Science (2002) 9.59
A large-scale genetic association study confirms IL12B and leads to the identification of IL23R as psoriasis-risk genes. Am J Hum Genet (2006) 9.56
Inferring nonneutral evolution from human-chimp-mouse orthologous gene trios. Science (2003) 9.20
The use of coded PCR primers enables high-throughput sequencing of multiple homolog amplification products by 454 parallel sequencing. PLoS One (2007) 9.17
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet (2009) 9.16
Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet (2008) 8.92
Evaluation of an improved branch-site likelihood method for detecting positive selection at the molecular level. Mol Biol Evol (2005) 8.74
Comparative genome sequencing of Drosophila pseudoobscura: chromosomal, gene, and cis-element evolution. Genome Res (2005) 8.38
A scan for positively selected genes in the genomes of humans and chimpanzees. PLoS Biol (2005) 8.32
Multilocus methods for estimating population sizes, migration rates and divergence time, with applications to the divergence of Drosophila pseudoobscura and D. persimilis. Genetics (2004) 7.79
Genome-wide survey of SNP variation uncovers the genetic structure of cattle breeds. Science (2009) 7.64
Ancient human genome sequence of an extinct Palaeo-Eskimo. Nature (2010) 7.51
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
Codon-substitution models for detecting molecular adaptation at individual sites along specific lineages. Mol Biol Evol (2002) 7.21
The evolution of gene expression levels in mammalian organs. Nature (2011) 7.16
Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A (2002) 6.95
Ascertainment bias in studies of human genome-wide polymorphism. Genome Res (2005) 6.63
Proportionally more deleterious genetic variation in European than in African populations. Nature (2008) 6.61
Evolution of transcription factor binding sites in Mammalian gene regulatory regions: conservation and turnover. Mol Biol Evol (2002) 6.44
Genomic scans for selective sweeps using SNP data. Genome Res (2005) 6.43
Evolutionary changes in cis and trans gene regulation. Nature (2004) 6.24
Whole-genome shotgun assembly and comparison of human genome assemblies. Proc Natl Acad Sci U S A (2004) 6.08
Simultaneous inference of selection and population growth from patterns of variation in the human genome. Proc Natl Acad Sci U S A (2005) 5.94
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
Integration within the Felsenstein equation for improved Markov chain Monte Carlo methods in population genetics. Proc Natl Acad Sci U S A (2007) 5.64
Recent explosive human population growth has resulted in an excess of rare genetic variants. Science (2012) 5.58
Resequencing of 200 human exomes identifies an excess of low-frequency non-synonymous coding variants. Nat Genet (2010) 5.44
A 3.9-centimorgan-resolution human single-nucleotide polymorphism linkage map and screening set. Am J Hum Genet (2003) 5.34
Localizing recent adaptive evolution in the human genome. PLoS Genet (2007) 5.11
Resequencing 50 accessions of cultivated and wild rice yields markers for identifying agronomically important genes. Nat Biotechnol (2011) 4.84
An Aboriginal Australian genome reveals separate human dispersals into Asia. Science (2011) 4.84
Genome-wide association study provides evidence for a breast cancer risk locus at 6q22.33. Proc Natl Acad Sci U S A (2008) 4.76
Patterns of positive selection in six Mammalian genomes. PLoS Genet (2008) 4.69
Recent and ongoing selection in the human genome. Nat Rev Genet (2007) 4.62
The functional spectrum of low-frequency coding variation. Genome Biol (2011) 4.42
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun (2010) 4.39
The genome of Nanoarchaeum equitans: insights into early archaeal evolution and derived parasitism. Proc Natl Acad Sci U S A (2003) 4.36
Electromechanical resonators from graphene sheets. Science (2007) 4.36
A Markov chain Monte Carlo approach for joint inference of population structure and inbreeding rates from multilocus genotype data. Genetics (2007) 4.31
Accuracy and power of statistical methods for detecting adaptive evolution in protein coding sequences and for identifying positively selected sites. Genetics (2004) 4.22
Transcriptome-wide identification of novel imprinted genes in neonatal mouse brain. PLoS One (2008) 4.03
Genome-wide single-nucleotide polymorphism analysis defines haplotype patterns in mouse. Proc Natl Acad Sci U S A (2003) 3.93
Effect of recombination on the accuracy of the likelihood method for detecting positive selection at amino acid sites. Genetics (2003) 3.89
Genome-wide patterns of nucleotide polymorphism in domesticated rice. PLoS Genet (2007) 3.83
Characterization of blaKPC-containing Klebsiella pneumoniae isolates detected in different institutions in the Eastern USA. J Antimicrob Chemother (2009) 3.82
The cost of inbreeding in Arabidopsis. Nature (2002) 3.80
Ancient biomolecules from deep ice cores reveal a forested southern Greenland. Science (2007) 3.79
Global landscape of HIV-human protein complexes. Nature (2011) 3.70