A systematic assessment of machine learning for structural variant filtering
Our findings demonstrate that for the established task of germline SV filtering, simpler, interpretable models provide an optimal balance of accuracy, speed, and transparency. This benchmark establishes a pragmatic framework for method selection and argues that increased model complexity must be justified by clear, unmet biological needs rather than marginal predictive gains.
Authors
- Archit Kalra
- Luis Paulin
- FRITZ SEDLAZECK
Institutions
- Baylor College of Medicine (US)
- Kennedy Center (DK)
- Rice University (US)
Publication Details
- Journal
- bioRxiv (Cold Spring Harbor Laboratory)
- Published
- 2026-01-30
- DOI
- https://doi.org/10.64898/2026.01.27.702059
- Primary Topic
- Genomics and Rare Diseases
- Type
- article
- Field-Weighted Citation Impact
- 0.00
Funders
- National Institutes of Health