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A global reference for human genetic variation

Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Garrison, Erik P ; Kang, Hyun Min ; Korbel, Jan O ; Marchini, Jonathan L ; McCarthy, Shane ; McVean, Gil A ; Abecasis, Gonçalo R

Nature (London), 2015-10, Vol.526 (7571), p.68-74 [Periódico revisado por pares]

England: Nature Publishing Group

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Título:
A global reference for human genetic variation
Autor: Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Garrison, Erik P ; Kang, Hyun Min ; Korbel, Jan O ; Marchini, Jonathan L ; McCarthy, Shane ; McVean, Gil A ; Abecasis, Gonçalo R
Assuntos: Accuracy ; Binding sites ; Datasets as Topic ; Demography ; Disease Susceptibility ; DNA sequencing ; Exome - genetics ; Genealogy ; Genetic diversity ; Genetic research ; Genetic variation ; Genetic Variation - genetics ; Genetics, Medical ; Genetics, Population - standards ; Genome, Human - genetics ; Genome-Wide Association Study ; Genomes ; Genomics - standards ; Genotype ; Genotype & phenotype ; Haplotypes ; Haplotypes - genetics ; High-Throughput Nucleotide Sequencing ; Humans ; INDEL Mutation - genetics ; Internationality ; Methods ; Mitochondrial DNA ; Nucleotide sequencing ; Observations ; Physical Chromosome Mapping ; Polymorphism, Single Nucleotide - genetics ; Population ; Quantitative Trait Loci - genetics ; Rare Diseases - genetics ; Reference Standards ; Sequence Analysis, DNA ; Studies
É parte de: Nature (London), 2015-10, Vol.526 (7571), p.68-74
Descrição: 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 >99% of SNP variants with a frequency of >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.
Editor: England: Nature Publishing Group
Idioma: Inglês

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A global reference for human genetic variation

Auton, Adam ; Brooks, Lisa D ; Durbin, Richard M ; Garrison, Erik P ; Kang, Hyun Min ; Korbel, Jan O ; Marchini, Jonathan L ; McCarthy, Shane ; McVean, Gil A ; Abecasis, Gonçalo R

England: Nature Publishing Group

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