期刊
NATURE REVIEWS GENETICS
卷 14, 期 7, 页码 460-470出版社
NATURE PUBLISHING GROUP
DOI: 10.1038/nrg3455
关键词
-
资金
- NIGMS NIH HHS [R01 GM078598] Funding Source: Medline
- NIMH NIH HHS [R01 MH101244] Funding Source: Medline
Next-generation sequencing is becoming the primary discovery tool in human genetics. There have been many clear successes in identifying genes that are responsible for Mendelian diseases, and sequencing approaches are now poised to identify the mutations that cause undiagnosed childhood genetic diseases and those that predispose individuals to more common complex diseases. There are, however, growing concerns that the complexity and magnitude of complete sequence data could lead to an explosion of weakly justified claims of association between genetic variants and disease. Here, we provide an overview of the basic workflow in next-generation sequencing studies and emphasize, where possible, measures and considerations that facilitate accurate inferences from human sequencing studies.
作者
我是这篇论文的作者
点击您的名字以认领此论文并将其添加到您的个人资料中。
推荐
暂无数据