Genetic & Genomic MedicineNature GeneticsPeer-reviewed
Proteome-wide model for human disease genetics
Rose Orenbuch, Courtney A. Shearer, Aaron W. Kollasch…·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.
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