Integration of variant annotations using deep set networks boosts rare variant association genetics
Brian Clarke, Eva Holtkamp, Hakime Öztürk, Marcel Mück, Magnus Wahlberg, Kayla Meyer, Felix Munzlinger, Felix Brechtmann, Florian R. Hölzlwimmer, Julien Gagneur, Oliver Stegle
This paper introduces DeepRVAT, a deep learning model for rare variant association genetics, showing improved gene discovery and risk prediction using whole-exome sequencing data from UK Biobank.
bioRxiv · Jul 12, 2023 · PreprintBioinformatics