Article

AutoPM3: Enhancing Variant Interpretation via LLM-driven PM3 Evidence Extraction from Scientific Literature

2024-11-03

Abstract excerpt

Rare diseases, affecting 300 million people globally, often result from genetic variants. Wholegenome sequencing has made variant detection more cost-effective, but interpreting these variants remains challenging. Current clinical practice combines quantitative evidence and literature, which is complex and time-consuming. We introduce AutoPM3, a method for automating the extraction of ACMG/AMP PM3 evidence from sc...

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Literature Corpus work: 9ecb9253-48ba-54fa-9af8-810f34e67592
DOI: 10.1101/2024.10.29.621006

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