A unified analytic framework for prioritization of non-coding variants of uncertain significance in heritable breast and ovarian cancer

BACKGROUND: Sequencing of both healthy and disease singletons yields many novel and low frequency variants of uncertain significance (VUS). Complete gene and genome sequencing by next generation sequencing (NGS) significantly increases the number of VUS detected. While prior studies have emphasized...

Descripción completa

Detalles Bibliográficos
Autores principales: Mucaki, Eliseos J., Caminsky, Natasha G., Perri, Ami M., Lu, Ruipeng, Laederach, Alain, Halvorsen, Matthew, Knoll, Joan H. M., Rogan, Peter K.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2016
Materias:
Technical Advance
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828881/
https://www.ncbi.nlm.nih.gov/pubmed/27067391
http://dx.doi.org/10.1186/s12920-016-0178-5

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828881/
https://www.ncbi.nlm.nih.gov/pubmed/27067391
http://dx.doi.org/10.1186/s12920-016-0178-5

Ejemplares similares