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...

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Enregistré dans:
Détails bibliographiques
Publié dans:Hum Mutat
Auteurs principaux: 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.
Format: Artigo
Langue:Inglês
Publié: John Wiley and Sons Inc. 2015
Sujets:
Research Articles
Accès en ligne:https://ncbi.nlm.nih.gov/pmc/articles/PMC4973827/
https://ncbi.nlm.nih.gov/pubmed/25871441
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1002/humu.22798
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