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Secondary findings and carrier test frequencies in a large multiethnic sample

BACKGROUND: Besides its growing importance in clinical diagnostics and understanding the genetic basis of Mendelian and complex diseases, whole exome sequencing (WES) is a rich source of additional information of potential clinical utility for physicians, patients and their families. We analyzed the...

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Bibliografiske detaljer
Udgivet i:Genome Med
Main Authors: Gambin, Tomasz, Jhangiani, Shalini N., Below, Jennifer E., Campbell, Ian M., Wiszniewski, Wojciech, Muzny, Donna M., Staples, Jeffrey, Morrison, Alanna C., Bainbridge, Matthew N., Penney, Samantha, McGuire, Amy L., Gibbs, Richard A., Lupski, James R., Boerwinkle, Eric
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2015
Fag:
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC4507324/
https://ncbi.nlm.nih.gov/pubmed/26195989
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-015-0171-1
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