Large language models identify causal genes in complex trait GWAS.

Abstract excerpt

Pinpointing causal genes at genome-wide association study (GWAS) loci remains a major bottleneck. Existing literature-mining approaches are often limited in accuracy and scalability. We show that large language models (LLMs) can accurately prioritize likely causal genes at GWAS loci. We systematically evaluated several widely available general-purpose LLMs against benchmark datasets of high-confidence causal...

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