A copy number variation map of the human genome

被引：605

作者：

Zarrei, Mehdi ^{[1
,2
]}

MacDonald, Jeffrey R. ^{[1
,2
]}

Merico, Daniele ^{[1
,2
]}

Scherer, Stephen W. ^{[1
,2
,3
,4
]}

机构：

[1] Hosp Sick Children, Ctr Appl Genom, Toronto, ON M5G 1L7, Canada

[2] Hosp Sick Children, Program Genet & Genome Biol, Toronto, ON M5G 1L7, Canada

[3] Univ Toronto, McLaughlin Ctr, Toronto, ON M5G 1L7, Canada

[4] Univ Toronto, Dept Mol Genet, Toronto, ON M5G 1L7, Canada

来源：

NATURE REVIEWS GENETICS | 2015年 / 16卷 / 03期

基金：

加拿大健康研究院;

关键词：

STRUCTURAL VARIATION; CHROMOSOMAL IMBALANCE; FUNCTIONAL IMPACT; ARRAY CGH; VARIANTS; GENE; DATABASE; RESOLUTION; SELECTION; REARRANGEMENTS;

D O I：

10.1038/nrg3871

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A major contribution to the genome variability among individuals comes from deletions and duplications - collectively termed copy number variations (CNVs) - which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8-9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.

引用

页码：172 / 183

页数：12

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