FLAGS, frequently mutated genes in public exomes

BACKGROUND: Dramatic improvements in DNA-sequencing technologies and computational analyses have led to wide use of whole exome sequencing (WES) to identify the genetic basis of Mendelian disorders. More than 180 novel rare-disease-causing genes with Mendelian inheritance patterns have been discover...

Disgrifiad llawn

Wedi'i Gadw mewn:
Manylion Llyfryddiaeth
Cyhoeddwyd yn:BMC Med Genomics
Prif Awduron: Shyr, Casper, Tarailo-Graovac, Maja, Gottlieb, Michael, Lee, Jessica JY, van Karnebeek, Clara, Wasserman, Wyeth W
Fformat: Artigo
Iaith:Inglês
Cyhoeddwyd: BioMed Central 2014
Pynciau:
Research Article
Mynediad Ar-lein:https://ncbi.nlm.nih.gov/pmc/articles/PMC4267152/
https://ncbi.nlm.nih.gov/pubmed/25466818
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-014-0064-y
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