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Clan genomics and the complex architecture of human disease.

ABSTRACT: Human diseases are caused by alleles that encompass the full range of variant types, from single-nucleotide changes to copy-number variants, and these variations span a broad frequency spectrum, from the very rare to the common. The picture emerging from analysis of whole-genome sequences, the 1000 Genomes Project pilot studies, and targeted genomic sequencing derived from very large sample sizes reveals an abundance of rare and private variants. One implication of this realization is that recent mutation may have a greater influence on disease susceptibility or protection than is conferred by variations that arose in distant ancestors.

SUBMITTER: Lupski JR

PROVIDER: S-EPMC3656718 | biostudies-literature | 2011 Sep

REPOSITORIES: biostudies-literature

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Clan genomics and the complex architecture of human disease.

Lupski James R JR Belmont John W JW Boerwinkle Eric E Gibbs Richard A RA

Cell 20110901 1

Human diseases are caused by alleles that encompass the full range of variant types, from single-nucleotide changes to copy-number variants, and these variations span a broad frequency spectrum, from the very rare to the common. The picture emerging from analysis of whole-genome sequences, the 1000 Genomes Project pilot studies, and targeted genomic sequencing derived from very large sample sizes reveals an abundance of rare and private variants. One implication of this realization is that recen ...[more]

PMID: 21962505

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