From genes to genomes in the clinic.

TitleFrom genes to genomes in the clinic.
Publication TypeJournal Article
Year of Publication2015
AuthorsVeltman, JA, Lupski, JR
JournalGenome Med
Volume7
Issue1
Pagination78
Date Published2015
ISSN1756-994X
Abstract

Next-generation sequencing is revolutionizing medical genetics and in the near future will pervade all medical fields. To maximize the potential clinical utility of this approach, global data sharing and phenotyping are needed, and the role of the geneticist in the interpretation of variation is vital.

DOI10.1186/s13073-015-0200-0
Alternate JournalGenome Med
PubMed ID26221187
PubMed Central IDPMC4517556