Challenges and standards in integrating surveys of structural variation

被引：276

作者：

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

Lee, Charles ^{[4
,5
]}

Birney, Ewan ^{[6
]}

Altshuler, David M. ^{[8
,9
]}

Eichler, Evan E. ^{[10
,11
]}

Carter, Nigel P. ^{[7
]}

Hurles, Matthew E. ^{[7
]}

Feuk, Lars ^{[1
,2
]}

机构：

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

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

[3] Univ Toronto, Dept Mol & Med Genet, Toronto, ON M5G 1L7, Canada

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

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

[6] European Bioinformat Inst, Cambridge CB10 1SA, England

[7] Wellcome Trust Sanger Inst, Cambridge CB10 1SA, England

[8] Harvard Univ, Board Inst, Program Med & Populat Genet, Cambridge, MA 02142 USA

[9] Harvard Univ, MIT, Cambridge, MA 02142 USA

[10] Univ Washington, Sch Med, Howard Hughes Med Inst, Seattle, WA 98195 USA

[11] Univ Washington, Sch Med, Dept Genome Sci, Seattle, WA 98195 USA

来源：

NATURE GENETICS | 2007年 / 39卷 / Suppl 7期

基金：

英国惠康基金;

关键词：

D O I：

10.1038/ng2093

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its quality or describing identified features. This risks becoming a rampant problem, in particular with respect to surveys of copy number variation and their application to disease studies. Here, we consider the challenges in characterizing and documenting genomic structural variants. From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research.

引用

页码：S7 / S15

页数：9

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