Comparison of locus-specific databases for BRCA1 and BRCA2 variants reveals disparity in variant classification within and among databases

Genetic variants of uncertain clinical significance (VUSs) are a common outcome of clinical genetic testing. Locus-specific variant databases (LSDBs) have been established for numerous disease-associated genes as a research tool for the interpretation of genetic sequence variants to facilitate varia...

ver descrição completa

Na minha lista:
Detalhes bibliográficos
Publicado no:J Community Genet
Main Authors: Vail, Paris J., Morris, Brian, van Kan, Aric, Burdett, Brianna C., Moyes, Kelsey, Theisen, Aaron, Kerr, Iain D., Wenstrup, Richard J., Eggington, Julie M.
Formato: Artigo
Idioma:Inglês
Publicado em: Springer Berlin Heidelberg 2015
Assuntos:
Original Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4567983/
https://ncbi.nlm.nih.gov/pubmed/25782689
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1007/s12687-015-0220-x
Tags: Adicionar Tag
Sem tags, seja o primeiro a adicionar uma tag!

Registos relacionados