Integrating sequence-to-omics predictions and personal multi-omics for rare variant prioritization
Sequence-to-omics (S2O) predictions and molecular outliers provide complementary evidence to prioritize functional rare variants and facilitate rare disease diagnoses. However, current approaches do not integrate both lines of evidence. We present Watershed-DL, a framework that integrates S2O predictions of variant eff...
J. Lake, E. Robb, V. Rosa et al.
· medRxiv · 0 citations