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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Detalles Bibliográficos
Publicado en: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
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2015
Assuntos:
Research
Acceso en liña: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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