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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Détails bibliographiques
Publié dans:BMC Med Genomics
Auteurs principaux: Mucaki, Eliseos J., Caminsky, Natasha G., Perri, Ami M., Lu, Ruipeng, Laederach, Alain, Halvorsen, Matthew, Knoll, Joan H. M., Rogan, Peter K.
Format: Artigo
Langue:Inglês
Publié: BioMed Central 2016
Sujets:
Technical Advance
Accès en ligne: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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