Proteome-wide model for human disease genetics
Rose Orenbuch, Courtney A. Shearer, Aaron W. Kollasch, Aviv D. Spinner, Thomas A. Hopf, Lood van Niekerk, Dinko Franceschi, Mafalda Dias, Jonathan Frazer, Debora S. Marks
This paper introduces popEVE, a deep generative model for proteome-wide disease variant prediction, identifying 442 genes in a developmental disorder cohort, including 123 novel candidates.
Nature Genetics · Nov 24, 2025Peer-reviewedGenetic & Genomic Medicine