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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
Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
Family-based genome analysis enabled us to narrow the candidate genes for both of these Mendelian disorders to only four and demonstrate the value of complete genome sequencing in families. Expand
The Simons Genome Diversity Project: 300 genomes from 142 diverse populations
It is demonstrated that indigenous Australians, New Guineans and Andamanese do not derive substantial ancestry from an early dispersal of modern humans; instead, their modern human ancestry is consistent with coming from the same source as that of other non-Africans. Expand
Genetic Evidence for High-Altitude Adaptation in Tibet
Identifying genes under selection in humans living at high altitudes provides support for previously hypothesized mechanisms of high-altitude adaptation and illuminates the complexity of hypoxia-response pathways in humans. Expand
Genetic traces of ancient demography.
This genetic evidence denies any version of the multiregional model of modern human origins and implies instead that the authors' ancestors were effectively a separate species for most of the Pleistocene. Expand
Mutations in embryonic myosin heavy chain (MYH3) cause Freeman-Sheldon syndrome and Sheldon-Hall syndrome
It is shown that mutations in the embryonic myosin heavy chain (MYH3) gene cause Freeman-Sheldon syndrome, one of the most severe multiple congenital contracture syndromes, and nearly one-third of all cases of Sheldon-Hall syndrome, the most common distal arthrogryposis. Expand
Signatures of population expansion in microsatellite repeat data.
It is proved that population bottleneck followed by growth in size causes an imbalance between allele size variance and heterozygosity, characterized by the variance being transiently higher than expected under equilibrium conditions, analogous to that demonstrated before for the infinite allele model. Expand
Genetic evidence on the origins of Indian caste populations.
It is concluded that Indian castes are most likely to be of proto-Asian origin with West Eurasian admixture resulting in rank-related and sex-specific differences in the genetic affinities of castes to Asians and Europeans. Expand
Genetic variation, classification and 'race'
The results of genetic analyses that show that human genetic variation is geographically structured, in accord with historical patterns of gene flow and genetic drift are reviewed. Expand
A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans
A direct comparison of MEI and SNP diversity levels suggests a differential mobile element insertion rate among populations, and a comprehensive map of 7,380 MEI polymorphisms from the 1000 Genomes Project whole-genome sequencing data is presented. Expand