Filter-based hybridization capture of subgenomes enables resequencing and copy-number detection

被引：53

作者：

Herman, Daniel S. ^{[1
]}

Hovingh, G. Kees ^{[1
,2
]}

Iartchouk, Oleg ^{[3
]}

Rehm, Heidi L. ^{[3
,4
]}

Kucherlapati, Raju ^{[1
,3
]}

Seidman, J. G. ^{[1
,3
]}

Seidman, Christine E. ^{[1
,3
,5
]}

机构：

[1] Harvard Univ, Sch Med, Dept Genet, Boston, MA 02115 USA

[2] Univ Amsterdam, Acad Med Ctr, Dept Vasc Med, NL-1105 AZ Amsterdam, Netherlands

[3] Harvard Univ, Sch Med, Partners Healthcare Ctr Personalized Genet Med, Boston, MA USA

[4] Harvard Univ, Brigham & Womens Hosp, Sch Med, Dept Pathol, Boston, MA 02115 USA

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

来源：

NATURE METHODS | 2009年 / 6卷 / 07期

关键词：

HYPERTROPHIC CARDIOMYOPATHY; SELECTION; LOCI;

D O I：

10.1038/nmeth.1343

中图分类号：

Q5 [生物化学];

学科分类号：

071010 ; 081704 ;

摘要：

To exploit contemporary sequencing technologies for targeted genetic analyses, we developed a hybridization enrichment strategy for DNA capture that uses PCR products as subgenomic traps. We applied this strategy to 115 kilobases of the human genome encompassing 47 genes implicated in cardiovascular disease. Massively parallel sequencing of captured subgenomic libraries interrogated 99.8% of targeted nucleotides >= 20 times (similar to 40,000-fold enrichment), enabling sensitive and specific detection of sequence variation and copy-number variation.

引用

页码：507 / U57

页数：7

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