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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Vydáno v:Genome Med
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: BioMed Central 2015
Témata:
Research
On-line přístup: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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