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...

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Detalhes bibliográficos
Publicado no:BMC Med Genomics
Main Authors: Mucaki, Eliseos J., Caminsky, Natasha G., Perri, Ami M., Lu, Ruipeng, Laederach, Alain, Halvorsen, Matthew, Knoll, Joan H. M., Rogan, Peter K.
Formato: Artigo
Idioma:Inglês
Publicado em: BioMed Central 2016
Assuntos:
Technical Advance
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4828881/
https://ncbi.nlm.nih.gov/pubmed/27067391
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12920-016-0178-5
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