Predicting disease-causing variant combinations
Sofia Papadimitriou, Andrea M. Gazzo, Nassim Versbraegen, Charlotte Nachtegael, Jan A Aerts, Yves Moreau, Sonia Van Dooren, Ann Nowé, Guillaume Smits, Tom Lenaerts
This paper introduces VarCoPP, a machine-learning method that identifies pathogenic variant combinations in gene pairs, achieving high accuracy and providing interpretable explanations for predictions.
Proceedings of the National Academy of Sciences · May 24, 2019Peer-reviewedBioinformatics