Article

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

2026-07-10

Abstract excerpt

Structural variants are a major source of genomic variation and contribute to human disease and evolution through diverse mechanisms, yet their functional interpretation remains challenging. We present CADD-SV v2.0, an improved machine learning framework for scoring SV deleteriousness that expands on the original CADD-SV implementation. This version introduces a unified Random Forest model trained on an expanded s...

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Literature Corpus work: 4cd1655e-68d5-5923-9580-c27ff105331e
DOI: 10.64898/2026.07.08.736040

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