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Orazio Catona

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Open access Jul 2026

Coordinate- and Sequence-Based Features for a new Combined Annotation-Dependent Depletion Framework of Structural Variants (CADD-SV v2.0)

This version introduces a unified Random Forest model trained on an expanded set of proxy-neutral and proxy-deleterious variants drawn from human and non-human primate genomes, and substantially improves the computational workflow, increasing predictive power for genome-wide SV interpretation.

Orazio Catona, M. Kircher · bioRxiv · 0 citations