Article

Systematic assessment of machine learning-based variant annotation methods for rare variant association testing

2026-03-20

Abstract excerpt

Machine learning-based annotation methods are increasingly used to assess the pathogenicity of genetic variants, but their performance at prioritizing variants for gene-level association testing remains poorly characterized. Here, we systematically benchmark five annotation methods — CADD v1.6, CADD v1.7, AlphaMissense, ESM-1b, and GPN-MSA — using four primary gene-based tests and six annotation-level aggregation...

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Literature Corpus work: cbc84cde-113d-5a7c-9b8d-9612530aceae
DOI: 10.64898/2026.03.18.712715

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