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...

Descripción completa

Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Springer Berlin Heidelberg 2015
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567983/
https://www.ncbi.nlm.nih.gov/pubmed/25782689
http://dx.doi.org/10.1007/s12687-015-0220-x

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4567983/
https://www.ncbi.nlm.nih.gov/pubmed/25782689
http://dx.doi.org/10.1007/s12687-015-0220-x

Ejemplares similares