Clan genomics and the complex architecture of human disease.

TitleClan genomics and the complex architecture of human disease.
Publication TypeJournal Article
Year of Publication2011
AuthorsLupski, JR, Belmont, JW, Boerwinkle, E, Gibbs, RA
JournalCell
Volume147
Issue1
Pagination32-43
Date Published2011 Sep 30
ISSN1097-4172
KeywordsGenetic Predisposition to Disease, Genetic Variation, Genetics, Population, Genome, Human, Genomics, Humans, Pedigree, Pilot Projects, Precision Medicine
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.

DOI10.1016/j.cell.2011.09.008
Alternate JournalCell
PubMed ID21962505
PubMed Central IDPMC3656718
Grant ListU54 HG006542 / HG / NHGRI NIH HHS / United States
M01 RR000188 / RR / NCRR NIH HHS / United States
U54 HG003273 / HG / NHGRI NIH HHS / United States
R01 NS058529 / NS / NINDS NIH HHS / United States
5 U54 HG003273 / HG / NHGRI NIH HHS / United States
R01 NS027042 / NS / NINDS NIH HHS / United States
R01NS058529 / NS / NINDS NIH HHS / United States

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