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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Bibliografische gegevens
Gepubliceerd in:Hum Mutat
Hoofdauteurs: 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.
Formaat: Artigo
Taal:Inglês
Gepubliceerd in: John Wiley and Sons Inc. 2015
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Research Articles
Online toegang: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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