Exome sequencing makes medical genomics a reality

被引：111

作者：

Biesecker, Leslie G. ^{[1
]}

机构：

[1] NHGRI, Bethesda, MD 20892 USA

来源：

NATURE GENETICS | 2010年 / 42卷 / 01期

关键词：

D O I：

10.1038/ng0110-13

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Massively parallel sequencing of the exomes of four individuals with Miller syndrome, combined with filtering to exclude benign and unrelated variants, has identified causative mutations in DHODH. This approach will accelerate discovery of the genetic bases of hundreds of other rare mendelian disorders.

引用

页码：13 / 14

页数：2

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