• Publications
  • Influence
A global reference for human genetic variation
  • Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, A. Auton, +73 authors Shane A. McCarthy
  • Biology, Medicine
  • Nature
  • 30 September 2015
The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping. Expand
Inferring the Joint Demographic History of Multiple Populations from Multidimensional SNP Frequency Data
Combining the demographic model with a previously estimated distribution of selective effects among newly arising amino acid mutations accurately predicts the frequency spectrum of nonsynonymous variants across three continental populations (YRI, CHB, CEU). Expand
A Markov Chain Monte Carlo Approach for Joint Inference of Population Structure and Inbreeding Rates From Multilocus Genotype Data
The popular Bayesian clustering approach STRUCTURES is extended for simultaneous inference of inbreeding or selfing rates and population-of-origin classification using multilocus genetic markers and it is shown that selfing leads to spurious signals of population substructure using the standard STRUCTURE algorithm with a bias toward spurious signal of admixture. Expand
Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
The findings suggest that most human variation is rare, not shared between populations, and that rare variants are likely to play a role in human health, and show that large sample sizes will be required to associate rare variants with complex traits. Expand
Genomic scans for selective sweeps using SNP data.
This work shows that a new parametric test, based on composite likelihood, has a high power to detect selective sweeps and is surprisingly robust to assumptions regarding recombination rates and demography (i.e., has low Type I error). Expand
Genome-wide association mapping reveals a rich genetic architecture of complex traits in Oryza sativa
This work establishes an open-source translational research platform for genome-wide association studies in rice that directly links molecular variation in genes and metabolic pathways with the germplasm resources needed to accelerate varietal development and crop improvement. Expand
Genes mirror geography within Europe
Despite low average levels of genetic differentiation among Europeans, there is a close correspondence between genetic and geographic distances; indeed, a geographical map of Europe arises naturally as an efficient two-dimensional summary of genetic variation in Europeans. Expand
Great ape genetic diversity and population history
This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations. Expand
REVEL: An Ensemble Method for Predicting the Pathogenicity of Rare Missense Variants.
This work developed REVEL (rare exome variant ensemble learner), an ensemble method for predicting the pathogenicity of missense variants on the basis of individual tools: MutPred, FATHMM, VEST, PolyPhen, SIFT, PROVEAN, MutationAssessor, LRT, GERP, SiPhy, phyloP, and phastCons. Expand
Assessing the Evolutionary Impact of Amino Acid Mutations in the Human Genome
The analysis predicts that many of the alleles identified via whole-genome association mapping may be selectively neutral or (formerly) positively selected, implying that deleterious genetic variation affecting disease phenotype may be missed by this widely used approach for mapping genes underlying complex traits. Expand