Clan Genomics and the Complex Architecture of Human Disease

被引：268

作者：

Lupski, James R. ^{[1
,2
,3
]}

Belmont, John W. ^{[1
,2
]}

Boerwinkle, Eric ^{[4
,5
]}

Gibbs, Richard A. ^{[1
,5
]}

机构：

[1] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[2] Baylor Coll Med, Dept Pediat, Houston, TX 77030 USA

[3] Univ Texas Hlth Sci Ctr Houston, Texas Childrens Hosp, Houston, TX 77030 USA

[4] Univ Texas Hlth Sci Ctr Houston, Ctr Human Genet, Houston, TX 77030 USA

[5] Baylor Coll Med, Human Genome Sequencing Ctr, Houston, TX 77030 USA

来源：

CELL | 2011年 / 147卷 / 01期

关键词：

MARIE-TOOTH-DISEASE; CASSETTE TRANSPORTER GENE; SEVERE MENTAL-RETARDATION; CYSTIC-FIBROSIS GENE; COPY NUMBER; DENSITY-LIPOPROTEIN; STARGARDT-DISEASE; CHRONIC RHINOSINUSITIS; TREMOR/ATAXIA SYNDROME; HEREDITARY NEUROPATHY;

D O I：

10.1016/j.cell.2011.09.008

中图分类号：

Q5 [生物化学]; Q7 [分子生物学];

学科分类号：

071010 ; 081704 ;

摘要：

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.

引用

页码：32 / 43

页数：12

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