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
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2015
Materias:
Research
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324/
https://www.ncbi.nlm.nih.gov/pubmed/26195989
http://dx.doi.org/10.1186/s13073-015-0171-1

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4507324/
https://www.ncbi.nlm.nih.gov/pubmed/26195989
http://dx.doi.org/10.1186/s13073-015-0171-1

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