CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations

Exome sequencing is now mainstream in clinical practice. However, identification of pathogenic Mendelian variants remains time-consuming, in part, because the limited accuracy of current computational prediction methods requires manual classification by experts. Here we introduce CAPICE, a new machi...

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Bibliografiske detaljer
Udgivet i:Genome Med
Main Authors: Li, Shuang, van der Velde, K. Joeri, de Ridder, Dick, van Dijk, Aalt D. J., Soudis, Dimitrios, Zwerwer, Leslie R., Deelen, Patrick, Hendriksen, Dennis, Charbon, Bart, van Gijn, Marielle E., Abbott, Kristin, Sikkema-Raddatz, Birgit, van Diemen, Cleo C., Kerstjens-Frederikse, Wilhelmina S., Sinke, Richard J., Swertz, Morris A.
Format: Artigo
Sprog:Inglês
Udgivet: BioMed Central 2020
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Method
Online adgang:https://ncbi.nlm.nih.gov/pmc/articles/PMC7446154/
https://ncbi.nlm.nih.gov/pubmed/32831124
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s13073-020-00775-w
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