Next-Generation Sequencing to Diagnose Suspected Genetic Disorders

被引:156
|
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
收藏
页码:1353 / 1362
页数:10
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