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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Detalles Bibliográficos
Autores principales: 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.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2020
Materias:
Method
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446154/
https://www.ncbi.nlm.nih.gov/pubmed/32831124
http://dx.doi.org/10.1186/s13073-020-00775-w

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7446154/
https://www.ncbi.nlm.nih.gov/pubmed/32831124
http://dx.doi.org/10.1186/s13073-020-00775-w

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