| Literature DB >> 26776219 |
Steven E Brenner1, Stephen Kingsmore, Sean D Mooney, Robert Nussbaum, Jennifer Puck.
Abstract
Rare genetic disorders affect millions of individuals worldwide. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. Many of these disorders can take decades to correctly diagnose. Because of this, genome sequencing of newborns raises a substantial opportunity to identify genetic disorders before they present symptoms, and to identify patient risks at the start of life. This workshop will report on efforts to screen newborns using genetic sequencing technologies, and attendant biomedical informatics and computational biology approaches.Entities:
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Year: 2016 PMID: 26776219
Source DB: PubMed Journal: Pac Symp Biocomput ISSN: 2335-6928