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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Xehetasun bibliografikoak
Argitaratua izan da:Genome Med
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: BioMed Central 2020
Gaiak:
Method
Sarrera elektronikoa: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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