Published in Science on May 11, 2012
An integrated map of genetic variation from 1,092 human genomes. Nature (2012) 59.82
Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants. Nature (2012) 8.91
A polygenic burden of rare disruptive mutations in schizophrenia. Nature (2014) 5.99
Analyses of pig genomes provide insight into porcine demography and evolution. Nature (2012) 5.58
Searching for missing heritability: designing rare variant association studies. Proc Natl Acad Sci U S A (2014) 3.47
Finding the sources of missing heritability in a yeast cross. Nature (2013) 3.43
Detection of clinically relevant genetic variants in autism spectrum disorder by whole-genome sequencing. Am J Hum Genet (2013) 2.47
Improving the accuracy and efficiency of identity-by-descent detection in population data. Genetics (2013) 2.26
The deleterious mutation load is insensitive to recent population history. Nat Genet (2014) 2.14
The great human expansion. Proc Natl Acad Sci U S A (2012) 1.86
High-resolution mapping of complex traits with a four-parent advanced intercross yeast population. Genetics (2013) 1.72
Recent mitochondrial DNA mutations increase the risk of developing common late-onset human diseases. PLoS Genet (2014) 1.64
Exploring population size changes using SNP frequency spectra. Nat Genet (2015) 1.64
Global migration and the changing distribution of sickle haemoglobin: a quantitative study of temporal trends between 1960 and 2000. Lancet Glob Health (2014) 1.58
Properties and rates of germline mutations in humans. Trends Genet (2013) 1.58
Estimating the mutation load in human genomes. Nat Rev Genet (2015) 1.57
Haplotype estimation using sequencing reads. Am J Hum Genet (2013) 1.56
Estimating variable effective population sizes from multiple genomes: a sequentially markov conditional sampling distribution approach. Genetics (2013) 1.55
Exome sequencing and complex disease: practical aspects of rare variant association studies. Hum Mol Genet (2012) 1.52
Characteristics of neutral and deleterious protein-coding variation among individuals and populations. Am J Hum Genet (2014) 1.43
Genetic Misdiagnoses and the Potential for Health Disparities. N Engl J Med (2016) 1.42
Sequencing an Ashkenazi reference panel supports population-targeted personal genomics and illuminates Jewish and European origins. Nat Commun (2014) 1.38
Evaluating empirical bounds on complex disease genetic architecture. Nat Genet (2013) 1.37
Host genetic variation impacts microbiome composition across human body sites. Genome Biol (2015) 1.32
High trans-ethnic replicability of GWAS results implies common causal variants. PLoS Genet (2013) 1.32
Low-frequency and rare exome chip variants associate with fasting glucose and type 2 diabetes susceptibility. Nat Commun (2015) 1.27
A recent bottleneck of Y chromosome diversity coincides with a global change in culture. Genome Res (2015) 1.26
Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A (2013) 1.25
Adaptive evolution: evaluating empirical support for theoretical predictions. Nat Rev Genet (2012) 1.22
Large numbers of genetic variants considered to be pathogenic are common in asymptomatic individuals. Hum Mutat (2013) 1.20
The impact of population demography and selection on the genetic architecture of complex traits. PLoS Genet (2014) 1.19
The role of the interactome in the maintenance of deleterious variability in human populations. Mol Syst Biol (2014) 1.18
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics (2013) 1.17
Prostate cancer in young men: an important clinical entity. Nat Rev Urol (2014) 1.15
The relationship between F(ST) and the frequency of the most frequent allele. Genetics (2012) 1.15
Molecular hyperdiversity and evolution in very large populations. Mol Ecol (2013) 1.11
The genetics and functional analysis of primary osteoarthritis susceptibility. Expert Rev Mol Med (2013) 1.10
The epidemiology of longevity and exceptional survival. Epidemiol Rev (2013) 1.09
The impact of rare variation on gene expression across tissues. Nature (2017) 1.09
Evolution and taxonomic classification of alphapapillomavirus 7 complete genomes: HPV18, HPV39, HPV45, HPV59, HPV68 and HPV70. PLoS One (2013) 1.07
Distance from sub-Saharan Africa predicts mutational load in diverse human genomes. Proc Natl Acad Sci U S A (2015) 1.06
Allelic expression of deleterious protein-coding variants across human tissues. PLoS Genet (2014) 1.05
Whole-exome sequencing reveals a rapid change in the frequency of rare functional variants in a founding population of humans. PLoS Genet (2013) 1.03
Genetics in population health science: strategies and opportunities. Am J Public Health (2013) 1.02
Transcriptome sequencing of a large human family identifies the impact of rare noncoding variants. Am J Hum Genet (2014) 0.99
Germline mutations in oncogene-induced senescence pathways are associated with multiple sessile serrated adenomas. Gastroenterology (2014) 0.99
On the need for mechanistic models in computational genomics and metagenomics. Genome Biol Evol (2013) 0.99
Correcting for population structure and kinship using the linear mixed model: theory and extensions. PLoS One (2013) 0.97
Genomic identification of founding haplotypes reveals the history of the selfing species Capsella rubella. PLoS Genet (2013) 0.96
Efficient inference of population size histories and locus-specific mutation rates from large-sample genomic variation data. Genome Res (2015) 0.96
Evaluating rare coding variants as contributing causes to non-syndromic cleft lip and palate. Clin Genet (2012) 0.95
Replication of genome wide association identified candidate genes confirm the role of common and rare variants in PAX7 and VAX1 in the etiology of nonsyndromic CL(P). Am J Med Genet A (2013) 0.95
Identifying rare variants associated with complex traits via sequencing. Curr Protoc Hum Genet (2013) 0.95
Biased gene conversion skews allele frequencies in human populations, increasing the disease burden of recessive alleles. Am J Hum Genet (2014) 0.95
Distortion of genealogical properties when the sample is very large. Proc Natl Acad Sci U S A (2014) 0.93
Pharmacogenetics: implications of race and ethnicity on defining genetic profiles for personalized medicine. J Allergy Clin Immunol (2014) 0.92
Contrasting X-linked and autosomal diversity across 14 human populations. Am J Hum Genet (2014) 0.92
Mapping of genotype-phenotype diversity among clinical isolates of mycobacterium tuberculosis by sequence-based transcriptional profiling. Genome Biol Evol (2013) 0.91
Whole-genome haplotyping approaches and genomic medicine. Genome Med (2014) 0.90
Post-invasion demography of prehistoric humans in South America. Nature (2016) 0.90
Predicting signatures of "synthetic associations" and "natural associations" from empirical patterns of human genetic variation. PLoS Comput Biol (2012) 0.90
Accurate Non-parametric Estimation of Recent Effective Population Size from Segments of Identity by Descent. Am J Hum Genet (2015) 0.89
Genetic disruption of voltage-gated calcium channels in psychiatric and neurological disorders. Prog Neurobiol (2015) 0.89
A genomic approach to therapeutic target validation identifies a glucose-lowering GLP1R variant protective for coronary heart disease. Sci Transl Med (2016) 0.89
Whole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and Africa. BMC Genomics (2014) 0.88
Assessing the effect of sequencing depth and sample size in population genetics inferences. PLoS One (2013) 0.88
High burden of private mutations due to explosive human population growth and purifying selection. BMC Genomics (2014) 0.88
Challenges in medical applications of whole exome/genome sequencing discoveries. Trends Cardiovasc Med (2012) 0.88
Analysis of rare variant population structure in Europeans explains differential stratification of gene-based tests. Eur J Hum Genet (2014) 0.87
A continuum of admixture in the Western Hemisphere revealed by the African Diaspora genome. Nat Commun (2016) 0.87
Population genetics identifies challenges in analyzing rare variants. Genet Epidemiol (2015) 0.87
Exome sequencing of germline DNA from non-BRCA1/2 familial breast cancer cases selected on the basis of aCGH tumor profiling. PLoS One (2013) 0.86
General triallelic frequency spectrum under demographic models with variable population size. Genetics (2013) 0.86
Evolutionary constraints in the β-globin cluster: the signature of purifying selection at the δ-globin (HBD) locus and its role in developmental gene regulation. Genome Biol Evol (2013) 0.86
267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation. Mol Biol Evol (2016) 0.86
Misperceived invasion: the Lusitanian slug (Arion lusitanicus auct. non-Mabille or Arion vulgaris Moquin-Tandon 1855) is native to Central Europe. Evol Appl (2014) 0.86
Aberrant gene expression in humans. PLoS Genet (2015) 0.86
The DRD4 exon III VNTR, bupropion, and associations with prospective abstinence. Nicotine Tob Res (2012) 0.86
Rare functional variants in genome-wide association identified candidate genes for nonsyndromic clefts in the African population. Am J Med Genet A (2014) 0.85
The impact of accelerating faster than exponential population growth on genetic variation. Genetics (2013) 0.85
Causality in genetics: the gradient of genetic effects and back to Koch's postulates of causality. Circ Res (2014) 0.85
Structural architecture of SNP effects on complex traits. Am J Hum Genet (2014) 0.85
Population and genomic lessons from genetic analysis of two Indian populations. Hum Genet (2014) 0.84
Comparative population genomics: power and principles for the inference of functionality. Trends Genet (2014) 0.84
Determining causality and consequence of expression quantitative trait loci. Hum Genet (2014) 0.84
Current and Prospective Methods for Plant Disease Detection. Biosensors (Basel) (2015) 0.84
Excess variants in AFF2 detected by massively parallel sequencing of males with autism spectrum disorder. Hum Mol Genet (2012) 0.83
Efficient genotype compression and analysis of large genetic-variation data sets. Nat Methods (2015) 0.83
Inference of distant genetic relations in humans using "1000 genomes". Genome Biol Evol (2015) 0.83
DESCARTES' RULE OF SIGNS AND THE IDENTIFIABILITY OF POPULATION DEMOGRAPHIC MODELS FROM GENOMIC VARIATION DATA. Ann Stat (2014) 0.82
Rare variation facilitates inferences of fine-scale population structure in humans. Mol Biol Evol (2014) 0.82
Genotype-Frequency Estimation from High-Throughput Sequencing Data. Genetics (2015) 0.82
Selective constraint, background selection, and mutation accumulation variability within and between human populations. BMC Genomics (2013) 0.82
The genetic architecture of gene expression levels in wild baboons. Elife (2015) 0.82
Selection and explosive growth alter genetic architecture and hamper the detection of causal rare variants. Genome Res (2016) 0.81
Balancing selection on a regulatory region exhibiting ancient variation that predates human-neandertal divergence. PLoS Genet (2013) 0.81
Inference of Super-exponential Human Population Growth via Efficient Computation of the Site Frequency Spectrum for Generalized Models. Genetics (2015) 0.81
Why to account for finite sites in population genetic studies and how to do this with Jaatha 2.0. Ecol Evol (2013) 0.81
Common biological networks underlie genetic risk for alcoholism in African- and European-American populations. Genes Brain Behav (2013) 0.81
Evaluating rare variants in complex disorders using next-generation sequencing. Curr Psychiatry Rep (2013) 0.80
A map of human genome variation from population-scale sequencing. Nature (2010) 121.13
Finding the missing heritability of complex diseases. Nature (2009) 67.95
The Atherosclerosis Risk in Communities (ARIC) Study: design and objectives. The ARIC investigators. Am J Epidemiol (1989) 37.83
Generating samples under a Wright-Fisher neutral model of genetic variation. Bioinformatics (2002) 34.50
Integrating common and rare genetic variation in diverse human populations. Nature (2010) 32.30
Sequence variations in PCSK9, low LDL, and protection against coronary heart disease. N Engl J Med (2006) 23.83
Personal genomes: The case of the missing heritability. Nature (2008) 19.56
Calibrating a coalescent simulation of human genome sequence variation. Genome Res (2005) 15.04
Missing heritability and strategies for finding the underlying causes of complex disease. Nat Rev Genet (2010) 14.81
Human genetic variation and its contribution to complex traits. Nat Rev Genet (2009) 12.11
Inferring the joint demographic history of multiple populations from multidimensional SNP frequency data. PLoS Genet (2009) 9.16
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
Excess of rare variants in genes identified by genome-wide association study of hypertriglyceridemia. Nat Genet (2010) 7.08
Rate, molecular spectrum, and consequences of human mutation. Proc Natl Acad Sci U S A (2010) 7.07
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans. Nat Genet (2007) 6.63
Deep resequencing reveals excess rare recent variants consistent with explosive population growth. Nat Commun (2010) 4.39
Screening a large reference sample to identify very low frequency sequence variants: comparisons between two genes. Nat Genet (2001) 2.07
Botswana. Popul Policy Compend (1983) 2.03
Gene genealogies when the sample size exceeds the effective size of the population. Mol Biol Evol (2003) 1.79
9 billion? Science (2011) 1.76
Detailed investigation of the role of common and low-frequency WFS1 variants in type 2 diabetes risk. Diabetes (2009) 1.25
How many people have ever lived on earth? Popul Today (1995) 1.18
The promise and limitations of population exomics for human evolution studies. Genome Biol (2011) 1.13
Finding the missing heritability of complex diseases. Nature (2009) 67.95
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
Discovery of functional elements in 12 Drosophila genomes using evolutionary signatures. Nature (2007) 11.66
Natural selection on protein-coding genes in the human genome. Nature (2005) 10.84
Assessing the evolutionary impact of amino acid mutations in the human genome. PLoS Genet (2008) 8.92
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
Demographic history and rare allele sharing among human populations. Proc Natl Acad Sci U S A (2011) 7.36
Natural selection shaped regional mtDNA variation in humans. Proc Natl Acad Sci U S A (2002) 6.95
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
Natural variation in human membrane transporter genes reveals evolutionary and functional constraints. Proc Natl Acad Sci U S A (2003) 5.77
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
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
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
Transcriptome-wide identification of novel imprinted genes in neonatal mouse brain. PLoS One (2008) 4.03
Reconstituting the frequency spectrum of ascertained single-nucleotide polymorphism data. Genetics (2004) 3.65
Linkage disequilibrium and the mapping of complex human traits. Trends Genet (2002) 3.38
Regulatory changes underlying expression differences within and between Drosophila species. Nat Genet (2008) 3.24
Dynamic evolution of the innate immune system in Drosophila. Nat Genet (2007) 3.09
Darwinian and demographic forces affecting human protein coding genes. Genome Res (2009) 3.01
Genes regulated by mating, sperm, or seminal proteins in mated female Drosophila melanogaster. Curr Biol (2004) 2.84
Y chromosome of D. pseudoobscura is not homologous to the ancestral Drosophila Y. Science (2004) 2.80
Thrice out of Africa: ancient and recent expansions of the honey bee, Apis mellifera. Science (2006) 2.64
Population genetic analysis of shotgun assemblies of genomic sequences from multiple individuals. Genome Res (2008) 2.46
Genetic basis of natural variation in D. melanogaster antibacterial immunity. Science (2004) 2.38
Evolution of protein-coding genes in Drosophila. Trends Genet (2008) 2.36
Genomic analyses of transcription factor binding, histone acetylation, and gene expression reveal mechanistically distinct classes of estrogen-regulated promoters. Mol Cell Biol (2007) 2.33
Fine-scale heterogeneity in crossover rate in the garnet-scalloped region of the Drosophila melanogaster X chromosome. Genetics (2013) 2.17
Balancing selection maintains a form of ERAP2 that undergoes nonsense-mediated decay and affects antigen presentation. PLoS Genet (2010) 2.14
Mapping determinants of variation in energy metabolism, respiration and flight in Drosophila. Genetics (2003) 2.07
Sperm competitive ability in Drosophila melanogaster associated with variation in male reproductive proteins. Genetics (2004) 2.01
Population genetics: malaria variorum. Nature (2002) 1.97
Evolutionary processes acting on candidate cis-regulatory regions in humans inferred from patterns of polymorphism and divergence. PLoS Genet (2009) 1.97
Compensatory cis-trans evolution and the dysregulation of gene expression in interspecific hybrids of Drosophila. Genetics (2005) 1.93
Population genetic structure of the people of Qatar. Am J Hum Genet (2010) 1.91
Full-exon resequencing reveals toll-like receptor variants contribute to human susceptibility to tuberculosis disease. PLoS One (2007) 1.89
Understanding the accuracy of statistical haplotype inference with sequence data of known phase. Genet Epidemiol (2007) 1.87
Contrasting infection strategies in generalist and specialist wasp parasitoids of Drosophila melanogaster. PLoS Pathog (2007) 1.82
Sequence diversity and haplotype structure in the human ABCB1 (MDR1, multidrug resistance transporter) gene. Pharmacogenetics (2003) 1.79
Population genetic inference from personal genome data: impact of ancestry and admixture on human genomic variation. Am J Hum Genet (2012) 1.75
Tracing the evolutionary history of Drosophila regulatory regions with models that identify transcription factor binding sites. Mol Biol Evol (2003) 1.75
The evolutionary costs of immunological maintenance and deployment. BMC Evol Biol (2008) 1.74
Low conservation of gene content in the Drosophila Y chromosome. Nature (2008) 1.72
Targets of balancing selection in the human genome. Mol Biol Evol (2009) 1.69
Genomewide distribution of high-frequency, completely mismatching SNP haplotype pairs observed to be common across human populations. Am J Hum Genet (2003) 1.66
Extended linkage disequilibrium surrounding the hemoglobin E variant due to malarial selection. Am J Hum Genet (2004) 1.61
Polymorphisms in a human kidney xenobiotic transporter, OCT2, exhibit altered function. Pharmacogenetics (2002) 1.57
Conjuring SNPs to detect associations. Nat Genet (2007) 1.57
A genome-wide approach to identifying novel-imprinted genes. Hum Genet (2007) 1.55
Origin and evolution of Y chromosomes: Drosophila tales. Trends Genet (2009) 1.53
Analysis of genetic variation in Ashkenazi Jews by high density SNP genotyping. BMC Genet (2008) 1.53
Estrogen receptor genotypes and haplotypes associated with breast cancer risk. Cancer Res (2004) 1.52
Identification by full-coverage array CGH of human DNA copy number increases relative to chimpanzee and gorilla. Genome Res (2005) 1.51
Impact of microRNA regulation on variation in human gene expression. Genome Res (2012) 1.49
Y chromosome and other heterochromatic sequences of the Drosophila melanogaster genome: how far can we go? Genetica (2003) 1.49
Mapping multiple Quantitative Trait Loci by Bayesian classification. Genetics (2004) 1.46
Natural genetic variation in male reproductive genes contributes to nontransitivity of sperm competitive ability in Drosophila melanogaster. Mol Ecol (2012) 1.46
Independent effects of cis- and trans-regulatory variation on gene expression in Drosophila melanogaster. Genetics (2008) 1.45
Associations between sperm competition and natural variation in male reproductive genes on the third chromosome of Drosophila melanogaster. Genetics (2007) 1.45
Genetic variation in Drosophila melanogaster resistance to infection: a comparison across bacteria. Genetics (2006) 1.44
Methods for human demographic inference using haplotype patterns from genomewide single-nucleotide polymorphism data. Genetics (2009) 1.42
Analyses of X-linked and autosomal genetic variation in population-scale whole genome sequencing. Nat Genet (2011) 1.41
Disentangling the relationship between sex-biased gene expression and X-linkage. Genome Res (2012) 1.40
The linkage disequilibrium maps of three human chromosomes across four populations reflect their demographic history and a common underlying recombination pattern. Genome Res (2005) 1.40
Robustness of inference of haplotype block structure. J Comput Biol (2003) 1.38
Population genomic inferences from sparse high-throughput sequencing of two populations of Drosophila melanogaster. Genome Biol Evol (2009) 1.36
Inferring genetic ancestry: opportunities, challenges, and implications. Am J Hum Genet (2010) 1.36
Post-mating gene expression profiles of female Drosophila melanogaster in response to time and to four male accessory gland proteins. Genetics (2008) 1.33
Knowledge-driven analysis identifies a gene-gene interaction affecting high-density lipoprotein cholesterol levels in multi-ethnic populations. PLoS Genet (2012) 1.31
Genome sequencing reveals complex speciation in the Drosophila simulans clade. Genome Res (2012) 1.31
Optimal haplotype block-free selection of tagging SNPs for genome-wide association studies. Genome Res (2004) 1.28
Genetic incompatibilities are widespread within species. Nature (2013) 1.28
Molecular population genetics of inducible antibacterial peptide genes in Drosophila melanogaster. Mol Biol Evol (2003) 1.27
Larval rearing environment affects several post-copulatory traits in Drosophila melanogaster. Biol Lett (2007) 1.27
Rehabilitation and the single cell. Curr Opin Cell Biol (2006) 1.26
Neutral genomic regions refine models of recent rapid human population growth. Proc Natl Acad Sci U S A (2013) 1.25
Genes involved in convergent evolution of eusociality in bees. Proc Natl Acad Sci U S A (2011) 1.24
A survey for novel imprinted genes in the mouse placenta by mRNA-seq. Genetics (2011) 1.24
Gene-based testing of interactions in association studies of quantitative traits. PLoS Genet (2013) 1.23
Specificity determinants and diversification of the Brassica self-incompatibility pollen ligand. Proc Natl Acad Sci U S A (2003) 1.23
Contributions of 18 additional DNA sequence variations in the gene encoding apolipoprotein E to explaining variation in quantitative measures of lipid metabolism. Am J Hum Genet (2002) 1.22
The resolution of sexual antagonism by gene duplication. Genetics (2011) 1.18
Population growth inflates the per-individual number of deleterious mutations and reduces their mean effect. Genetics (2013) 1.17
Contrasting the efficacy of selection on the X and autosomes in Drosophila. Mol Biol Evol (2007) 1.16
Mining genetic epidemiology data with Bayesian networks application to APOE gene variation and plasma lipid levels. J Comput Biol (2005) 1.15
Function and evolution of DNA methylation in Nasonia vitripennis. PLoS Genet (2013) 1.14
Sex linkage, sex-specific selection, and the role of recombination in the evolution of sexually dimorphic gene expression. Evolution (2010) 1.13
Bayesian sperm competition estimates. Genetics (2003) 1.12
Parent-of-origin effects on mRNA expression in Drosophila melanogaster not caused by genomic imprinting. Genetics (2006) 1.11
Population dynamics of PIWI-interacting RNAs (piRNAs) and their targets in Drosophila. Genome Res (2009) 1.10