Article

Can large language models reliably extract human disease genes from full-text scientific literature?

2025-07-31

Abstract excerpt

Manual extraction of high-fidelity gene-disease-phenotype information from human genetics literature is a labor-intensive task that requires trained human genetics researchers to read through many primary research papers. This presents a major challenge for maintaining up-to-date human disease genetic databases. Recent exploration into large language models (LLMs) opens new directions in automating this manual pro...

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Literature Corpus work: 06ac88a8-ca18-5362-ada2-1482d6d1a9d1
DOI: 10.1101/2025.07.27.667022

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