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Variant pathogenicity prediction,Machine learning,Exome sequencing,Molecular consequence,Allele frequency,Clinical genetics,Genome diagnostics
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10.1186/s13073-020-00775-w
Genome Medicine
Genome Medicine, 2020, doi:10.1186/s13073-020-00775-w
Variant pathogenicity prediction
Machine learning
Exome sequencing
Molecular consequence
Allele frequency
Clinical genetics
Genome diagnostics
CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations
Shuang Li
K. Joeri Velde
Dick Ridder
Aalt D. J. Dijk
Dimitrios Soudis
Leslie R. Zwerwer
Patrick Deelen
Dennis Hendriksen
Bart Charbon
Marielle E. Gijn
Kristin Abbott
Birgit Sikkema-Raddatz
Cleo C. Diemen
Wilhelmina S. Kerstjens-Frederikse
Richard J. Sinke
Morris A. Swertz
2020-08-24T15:08:10+02:00
2020-08-24T15:08:10+02:00
2020-08-22T11:39:24+08:00
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