Article

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

2026-02-19

Abstract excerpt

<h4>BACKGROUND</h4> Genetic 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 t...

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Literature Corpus work: d99d24b4-9ded-5280-aa23-eb44558b7853
DOI: 10.64898/2026.02.18.26346543

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