A global reference for human genetic variation

Article

关键词: GENOME-WIDE ASSOCIATION;    COMPLEMENT FACTOR-H;    MACULAR DEGENERATION;    MUTATION;    VARIANT;    SUSCEPTIBILITY;    LOC387715;    COMMON;    RARE;   

DOI  :  10.1038/nature15393

来源: SCIE

【 摘 要 】

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.

【 授权许可】

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