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.

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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

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article

A systematic assessment of machine learning for structural variant filtering

Archit Kalra, Luis Paulin, FRITZ SEDLAZECK
bioRxiv (Cold Spring Harbor Laboratory)
Genomics and Rare Diseases
article

A systematic assessment of machine learning for structural variant filtering

Archit Kalra, Luis Paulin, FRITZ SEDLAZECK
article en

Abstract

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.

bioRxiv (Cold Spring Harbor Laboratory)
Baylor College of Medicine (US), Kennedy Center (DK), Rice University (US)
National Institutes of Health
Reduced inequalities
Openalex Percentile: Top 67%
Genomics and Rare Diseases
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