Article

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patients

2023-11-16

Abstract excerpt

Computational methods for identifying gene–disease associations can use both genomic and phenotypic information to prioritize genes and variants that may be associated with genetic diseases. Phenotype-based methods commonly rely on comparing phenotypes observed in a patient with a database of genotype-to-phenotype associations using a measure of semantic similarity, and are primarily limited by the quality and com...

Topics

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

Identifiers and source

Literature Corpus work: a0ccd819-1eb2-5437-8cac-f0a7a34d5c8b
DOI: 10.1101/2023.11.16.23298615

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

The application of Large Language Models to the phenotype-based prioritization of causative genes in rare disease patientsDOI 10.1101/2023.11.16.23298615Read

Large Language Models Enhance Molecular Diagnoses of Mendelian Disorders via A Novel LogicSemantic 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

A robust phenotype-driven likelihood ratio analysis approach assisting interpretable clinical diagnosis of rare diseases.Semantic proximity Read

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

Systematic benchmarking demonstrates large language models have not reached the diagnostic accuracy of traditional rare-disease decision support toolsSemantic proximity Read

Assessing the Reliability of LLM-Generated Phenotype-Genotype Associations Through External ValidationSemantic proximity Read

The Human Phenotype Ontology: Semantic Unification of Common and Rare Disease.Semantic proximity Read

Frequency-Stratified Benchmarking Reveals Strong Long-Tail Limitations of Large Language Models in Diagnosis of Monogenic DiseasesSemantic proximity Read

Genosolver: Rare Disease Diagnosis through Holistic Integration of Unstructured Clinical Narratives Using Large Language and Reasoning ModelsSemantic proximity Read

Bridging clinical narratives and structured phenotypes with large language models and sentence transformers.Semantic proximity Read

Improving Causal Gene Identification Using Large Language ModelsSemantic proximity Read

OARD: Open annotations for rare diseases and their phenotypes based on real-world data.Semantic proximity Read