<?xml version="1.0" encoding="UTF-8"?><xml><records><record><source-app name="Biblio" version="7.x">Drupal-Biblio</source-app><ref-type>17</ref-type><contributors><authors><author><style face="normal" font="default" size="100%">Auton, Adam</style></author><author><style face="normal" font="default" size="100%">Brooks, Lisa D</style></author><author><style face="normal" font="default" size="100%">Durbin, Richard M</style></author><author><style face="normal" font="default" size="100%">Garrison, Erik P</style></author><author><style face="normal" font="default" size="100%">Kang, Hyun Min</style></author><author><style face="normal" font="default" size="100%">Korbel, Jan O</style></author><author><style face="normal" font="default" size="100%">Marchini, Jonathan L</style></author><author><style face="normal" font="default" size="100%">McCarthy, Shane</style></author><author><style face="normal" font="default" size="100%">McVean, Gil A</style></author><author><style face="normal" font="default" size="100%">Abecasis, Gonçalo R</style></author></authors><translated-authors><author><style face="normal" font="default" size="100%">1000 Genomes Project Consortium</style></author></translated-authors></contributors><titles><title><style face="normal" font="default" size="100%">A global reference for human genetic variation.</style></title><secondary-title><style face="normal" font="default" size="100%">Nature</style></secondary-title><alt-title><style face="normal" font="default" size="100%">Nature</style></alt-title></titles><keywords><keyword><style  face="normal" font="default" size="100%">Datasets as Topic</style></keyword><keyword><style  face="normal" font="default" size="100%">Demography</style></keyword><keyword><style  face="normal" font="default" size="100%">Disease Susceptibility</style></keyword><keyword><style  face="normal" font="default" size="100%">Exome</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetic Variation</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Medical</style></keyword><keyword><style  face="normal" font="default" size="100%">Genetics, Population</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome, Human</style></keyword><keyword><style  face="normal" font="default" size="100%">Genome-Wide Association Study</style></keyword><keyword><style  face="normal" font="default" size="100%">Genomics</style></keyword><keyword><style  face="normal" font="default" size="100%">Genotype</style></keyword><keyword><style  face="normal" font="default" size="100%">Haplotypes</style></keyword><keyword><style  face="normal" font="default" size="100%">High-Throughput Nucleotide Sequencing</style></keyword><keyword><style  face="normal" font="default" size="100%">Humans</style></keyword><keyword><style  face="normal" font="default" size="100%">INDEL Mutation</style></keyword><keyword><style  face="normal" font="default" size="100%">Internationality</style></keyword><keyword><style  face="normal" font="default" size="100%">Physical Chromosome Mapping</style></keyword><keyword><style  face="normal" font="default" size="100%">Polymorphism, Single Nucleotide</style></keyword><keyword><style  face="normal" font="default" size="100%">Quantitative Trait Loci</style></keyword><keyword><style  face="normal" font="default" size="100%">Rare Diseases</style></keyword><keyword><style  face="normal" font="default" size="100%">Reference Standards</style></keyword><keyword><style  face="normal" font="default" size="100%">Sequence Analysis, DNA</style></keyword></keywords><dates><year><style  face="normal" font="default" size="100%">2015</style></year><pub-dates><date><style  face="normal" font="default" size="100%">2015 Oct 1</style></date></pub-dates></dates><urls><web-urls><url><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26432245</style></url></web-urls></urls><volume><style face="normal" font="default" size="100%">526</style></volume><pages><style face="normal" font="default" size="100%">68-74</style></pages><language><style face="normal" font="default" size="100%">eng</style></language><abstract><style face="normal" font="default" size="100%">&lt;p&gt;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 variants (84.7 million single nucleotide polymorphisms (SNPs), 3.6 million short insertions/deletions (indels), and 60,000 structural variants), all phased onto high-quality haplotypes. This resource includes &gt;99% of SNP variants with a frequency of &gt;1% for a variety of ancestries. We describe the distribution of genetic variation across the global sample, and discuss the implications for common disease studies.&lt;/p&gt;</style></abstract><issue><style face="normal" font="default" size="100%">7571</style></issue><notes><style face="normal" font="default" size="100%">http://www.nature.com/nature/journal/v526/n7571/full/nature15393.html</style></notes><custom1><style face="normal" font="default" size="100%">http://www.ncbi.nlm.nih.gov/pubmed/26432245?dopt=Abstract</style></custom1></record></records></xml>