Genetic Diagnosis through Whole-Exome Sequencing

被引：11

作者：

Rosen, J. Marc ^{[1
]}

机构：

[1] Hawaii Med Serv Assoc, Honolulu, HI USA

来源：

NEW ENGLAND JOURNAL OF MEDICINE | 2014年 / 370卷 / 11期

关键词：

D O I：

10.1056/NEJMc1315908

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

To the Editor: Yang et al. (Oct. 17 issue)(1) report the application of whole-exome sequencing in 250 patients with a potentially genetic disease, which resulted in a molecular diagnosis in 25% of them. A total of 30 patients had medically actionable incidental findings in a total of 16 genes; 18 of these patients had genotypes that the American College of Medical Genetics and Genomics has recommended be reported to the ordering physician.(2) As noted in the editorial by Jacob,(3) reporting these incidental findings is a gray area. We advocate a role for a team of specialized professionals to interpret such ...

引用

页码：1068 / 1068

页数：1

共 3 条

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