Genetic & Genomic MedicinemedRxivPreprint
Integrating sequence-to-omics predictions and personal multi-omics for rare variant prioritization
Julie Lake, E. Robb, Victoria Rosa…·Stephen B. Montgomery
The paper introduces Watershed-DL, a framework integrating sequence-to-omics predictions and multi-omics data to prioritize rare variants, finding it increases prioritized variants by 61.4% and identifies candidate disease alleles.