Detection of large-scale variation in the human genome

被引：2117

作者：

Iafrate, AJ

Feuk, L

Rivera, MN

Listewnik, ML

Donahoe, PK

Qi, Y

Scherer, SW

Lee, C

机构：

[1] Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[2] Harvard Univ, Sch Med, Boston, MA 02115 USA

[3] Hosp Sick Children, Dept Genet & Genom Biol, Toronto, ON M5G 1X8, Canada

[4] Univ Toronto, Toronto, ON, Canada

[5] Massachusetts Gen Hosp, Dept Surg, Boston, MA 02114 USA

[6] Massachusetts Gen Hosp, Pediat Surg Res Labs, Boston, MA 02114 USA

来源：

NATURE GENETICS | 2004年 / 36卷 / 09期

基金：

加拿大健康研究院;

关键词：

D O I：

10.1038/ng1416

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in >10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

引用

页码：949 / 951

页数：3

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