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

Autor: Shuang Li, K. Joeri van der Velde, Dick de Ridder, Aalt D. J. van Dijk, Dimitrios Soudis, Leslie R. Zwerwer, Patrick Deelen, Dennis Hendriksen, Bart Charbon, Marielle E. van Gijn, Kristin Abbott, Birgit Sikkema-Raddatz, Cleo C. van Diemen, Wilhelmina S. Kerstjens-Frederikse, Richard J. Sinke, Morris A. Swertz

Publikováno v: Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)

Abstract 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 class

Externí odkaz: https://doaj.org/article/aa39ee356dcc409a882f0c4904055b68

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

Autor: Bart Charbon, Aalt D. J. van Dijk, Richard J. Sinke, Wilhelmina S. Kerstjens-Frederikse, Dennis Hendriksen, Birgit Sikkema-Raddatz, Dick de Ridder, Patrick Deelen, Dimitrios Soudis, Cleo C. van Diemen, Morris A. Swertz, Kristin M. Abbott, Leslie R. Zwerwer, Shuang Li, Marielle E. van Gijn, K. Joeri van der Velde

Publikováno v: Genome Medicine, 12(1)
Genome medicine, 12(1):75. BMC
Genome Medicine 12 (2020) 1
Genome Medicine, Vol 12, Iss 1, Pp 1-11 (2020)
Genome Medicine

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

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::578a8ede32408a15bc991ad931c15155
https://research.wur.nl/en/publications/capice-a-computational-method-for-consequence-agnostic-pathogenic

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