An integrated map of genetic variation from 1,092 human genomes

@article{Abecasis2012AnIM,
  title={An integrated map of genetic variation from 1,092 human genomes},
  author={Gonçalo R. Abecasis and Adam Auton and Lisa D. Brooks and Mark A. DePristo and Richard Durbin and Robert E. Handsaker and Hyun Min Kang and Gabor T. Marth and Gil McVean},
  journal={Nature},
  year={2012},
  volume={491},
  pages={56 - 65}
}
By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million… Expand
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