Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics Literature

2026-02-19 genetic and genomic medicine Title + abstract only

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BACKGROUNDGenetic variant curation, an important step in the implementation of Genomic Medicine, requires literature-guided comparison of variant prevalence in affected individuals versus healthy controls. This evidence is categorized as the PS4 evidence code by the AMP/ACMG variant interpretation guidelines and its manual extraction is a major bottleneck in clinical variant curation. This study aimed to evaluate whether reasoning-capable large language models (LLMs) can support guideline-constr...

Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics Literature

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