Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

被引：163

作者：

Adams, David R. ^{[1
,2
]}

Eng, Christine M. ^{[3
,4
]}

机构：

[1] NHGRI, Bethesda, MD 20892 USA

[2] NIH, Undiagnosed Dis Program, Bldg 10,Rm 10C103E,10 Ctr Dr, Bethesda, MD 20892 USA

[3] Baylor Coll Med, Dept Mol & Human Genet, Houston, TX 77030 USA

[4] Baylor Genet, Houston, TX USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2018年 / 379卷 / 14期

基金：

美国国家卫生研究院;

关键词：

COST-EFFECTIVENESS; MEDICAL GENETICS; AMERICAN-COLLEGE; EXOME; RECOMMENDATIONS; VARIANTS; INTEGRATION; GUIDELINES; STANDARDS; GENOMICS;

D O I：

10.1056/NEJMra1711801

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

[No abstract available]

引用

页码：1353 / 1362

页数：10

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