Evaluation of CADD Scores in Curated Mismatch Repair Gene Variants Yields a Model for Clinical Validation and Prioritization

Next‐generation sequencing in clinical diagnostics is providing valuable genomic variant data, which can be used to support healthcare decisions. In silico tools to predict pathogenicity are crucial to assess such variants and we have evaluated a new tool, Combined Annotation Dependent Depletion (CA...

Descripción completa

Detalles Bibliográficos
Autores principales: van der Velde, K. Joeri, Kuiper, Joël, Thompson, Bryony A., Plazzer, John‐Paul, van Valkenhoef, Gert, de Haan, Mark, Jongbloed, Jan D.H., Wijmenga, Cisca, de Koning, Tom J., Abbott, Kristin M., Sinke, Richard, Spurdle, Amanda B., Macrae, Finlay, Genuardi, Maurizio, Sijmons, Rolf H., Swertz, Morris A.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2015
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973827/
https://www.ncbi.nlm.nih.gov/pubmed/25871441
http://dx.doi.org/10.1002/humu.22798

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4973827/
https://www.ncbi.nlm.nih.gov/pubmed/25871441
http://dx.doi.org/10.1002/humu.22798

Ejemplares similares