Faster and more accurate pathogenic combination predictions with VarCoPP2.0

Faster and more accurate pathogenic combination predictions with VarCoPP2.0

Abstract Background The prediction of potentially pathogenic variant combinations in patients remains a key task in the field of medical genetics for the understanding and detection of oligogenic/multilocus diseases. Models tailored towards such cases can help shorten the gap of missing diagnoses an...

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Bibliographic Details
Main Authors: Nassim Versbraegen, Barbara Gravel, Charlotte Nachtegael, Alexandre Renaux, Emma Verkinderen, Ann Nowé, Tom Lenaerts, Sofia Papadimitriou
Format: Article
Language:English
Published: BMC 2023-05-01
Series:BMC Bioinformatics
Subjects:
Oligogenic diseases
Variant combinations
Pathogenicity predictor
Balanced random forest
Online Access:https://doi.org/10.1186/s12859-023-05291-3

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