Article

PubMind: Literature-Based Genetic Variant Extraction and Functional Annotation Using Large Language Models

2025-10-15

Abstract excerpt

The rapid growth of biomedical literature has produced extensive functional knowledge on genetic variants, much of which remains buried in unstructured texts. Current databases such as ClinVar and the Human Gene Mutation Database (HGMD) attempt to catalog this knowledge but have significant limitations: ClinVar depends on voluntary submissions and covers only a fraction of published literature, while the academic...

Topics

Open a Topic to create a Post that cites this publication.

Identifiers and source

Literature Corpus work: d245e956-9ffc-5cf7-b133-1e458f1d161b
DOI: 10.1101/2025.10.13.682183

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

PubMind: Literature-Based Genetic Variant Extraction and Functional Annotation Using Large Language ModelsDOI 10.1101/2025.10.13.682183Read

DeepSeek as the paradigm shift in rare disease diagnosis – the power of a fully automated genetic variant classification systemSemantic proximity Read

AI-CURA, an automated LLM workflow for high-accuracy genetic variant classification.Semantic proximity Read

Language models reveal evidence gaps in variants of uncertain significanceSemantic proximity Read

Performance Characteristics of Reasoning Large Language Models for Evidence Extraction from Clinical Genomics LiteratureSemantic proximity Read

aiDIVA – Diagnostics of Rare Genetic Diseases Using Large Language ModelsSemantic proximity Read

Genetic Transformer: An Innovative Large Language Model Driven Approach for Rapid and Accurate Identification of Causative Variants in Rare Genetic DiseasesSemantic proximity Read

From Text to Translation: Using Language Models to Prioritize Variants for Clinical ReviewSemantic proximity Read

Variantscape: Large Language Model-Driven Mining of Biomedical Literature for Clinical Interpretation of Cancer VariantsSemantic proximity Read

From text to translation: using language models to prioritize variants for clinical review.Semantic proximity Read

AutoPM3: Enhancing Variant Interpretation via LLM-driven PM3 Evidence Extraction from Scientific LiteratureSemantic proximity Read

Large Language Model as a Promising Framework for the Complete Clinical Interpretation of Human Genetic VariantsSemantic proximity Read

AVADA Enables Automated Genetic Variant Curation Directly from the Full Text LiteratureSemantic proximity Read