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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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Pubblicato in:Genome Med
Autori principali: 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
Natura: Artigo
Lingua:Inglês
Pubblicazione: BioMed Central 2015
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Accesso online: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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