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Article

AutoPM3: enhancing variant interpretation via LLM-driven PM3 evidence extraction from scientific literature.

Bioinformatics (Oxford, England) - 1 Jul 2025

Li Shumin, Wang Yiding, Liu Chi-Man, Huang Yuanhua, Lam Tak-Wah, Luo Ruibang

Abstract excerpt

MOTIVATION: Rare diseases affect over 300 million people worldwide and are often caused by genetic variants. While variant detection has become cost-effective, interpreting these variants-particularly collecting literature-based evidence like ACMG/AMP PM3-remains complex and time-consuming. RESULTS: We present AutoPM3, a method that automates PM3 evidence extraction from literatures using open-source large...

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Topics

Genetic Variation
Humans
Software
Data Mining
Rare Diseases
Databases, Genetic
Computational Biology

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Identifiers

PMID: 40586923
DOI: 10.1093/bioinformatics/btaf382
PMCID: PMC12263107

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