CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exo...
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
About this item
Full title
Author / Creator
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 and Swertz, Morris A
Publisher
London: BioMed Central Ltd
Journal title
Language
English
Formats
Publication information
Publisher
London: BioMed Central Ltd
Subjects
More information
Scope and Contents
Contents
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 machine-learning-based method for prioritizing pathogen...
Alternative Titles
Full title
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Authors, Artists and Contributors
Author / Creator
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
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_aa39ee356dcc409a882f0c4904055b68
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_aa39ee356dcc409a882f0c4904055b68
Other Identifiers
ISSN
1756-994X
E-ISSN
1756-994X
DOI
10.1186/s13073-020-00775-w
