期刊
PEDIATRICS
卷 139, 期 2, 页码 -出版社
AMER ACAD PEDIATRICS
DOI: 10.1542/peds.2016-2252
关键词
-
类别
资金
- National Institute of Health [1U19HD077693, 1U19HD077632, 1U19HD077627, 1U19HD077671]
- Newborn Screening Translational Research Network [HHSN275201300011C]
- National Institutes of Health (NIH)
The rapid development of genomic sequencing technologies has decreased the cost of genetic analysis to the extent that it seems plausible that genome-scale sequencing could have widespread availability in pediatric care. Genomic sequencing provides a powerful diagnostic modality for patients who manifest symptoms of monogenic disease and an opportunity to detect health conditions before their development. However, many technical, clinical, ethical, and societal challenges should be addressed before such technology is widely deployed in pediatric practice. This article provides an overview of the Newborn Sequencing in Genomic Medicine and Public Health Consortium, which is investigating the application of genome-scale sequencing in newborns for both diagnosis and screening.
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