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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Foilsithe in:Hum Mutat
Main Authors: 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.
Formáid: Artigo
Teanga:Inglês
Foilsithe: John Wiley and Sons Inc. 2015
Ábhair:
Research Articles
Rochtain Ar Líne: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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