[HTML][HTML] A global reference for human genetic variation

1000 Genomes Project Consortium - Nature, 2015 - ncbi.nlm.nih.gov
Abstract 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. Here we report completion of the project, having
reconstructed the genomes of 2,504 individuals from 26 populations using a combination of
low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray
genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million …

A global reference for human genetic variation

RA Gibbs, E Boerwinkle, H Doddapaneni, Y Han… - Nature, 2015 - cdr.lib.unc.edu
Abstract 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. Here we report completion of the project, having
reconstructed the genomes of 2,504 individuals from 26 populations using a combination of
low-coverage whole-genome sequencing, deep exome sequencing, and dense microarray
genotyping. We characterized a broad spectrum of genetic variation, in total over 88 million …