PubMind: literature-based genetic variant extraction and functional annotation using large language models.

Abstract excerpt

Biomedical literature contains extensive functional knowledge on genetic variants, but much remains inaccessible in unstructured text. Existing resources such as ClinVar and HGMD remain limited by coverage, submission bias, update frequency, and sparse annotation. We develop PubMind, an artificial intelligence (AI) framework that uses large language models (LLMs) to triage and extract variant-function-disease...

Topics

• Large Language Models
• Humans
• Genetic Variation
• Databases, Genetic
• Genomics
• Molecular Sequence Annotation
• Data Mining