Article

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

2024-07-19

Abstract excerpt

<h4>Background</h4> Identifying causative variants is crucial for the diagnosis of rare genetic diseases. Over the past two decades, the application of genome sequencing technologies in the field has significantly improved diagnostic outcomes. However, the complexity of data analysis and interpretation continues to limit the efficiency and accuracy of these applications. Various genotype and phenotype-driven filte...

Topics

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

Identifiers and source

Literature Corpus work: 08cea429-08d2-5cd6-9ec7-42dccac0d54e
DOI: 10.1101/2024.07.18.24310666

Open publication

Related research

Semantic proximity does not establish scientific evidence.

Click a neighbor to travelStep 1 · 12 closest

Genetic Transformer: An Innovative Large Language Model Driven Approach for Rapid and Accurate Identification of Causative Variants in Rare Genetic DiseasesDOI 10.1101/2024.07.18.24310666Read

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

Improving automated deep phenotyping through large language models using retrieval-augmented generation.Semantic proximity Read

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

PubMind: Literature-Based Genetic Variant Extraction and Functional Annotation Using Large Language ModelsSemantic proximity Read

Consistent Performance of GPT-4o in Rare Disease Diagnosis Across Nine Languages and 4967 CasesSemantic proximity Read

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

Improving Automated Deep Phenotyping Through Large Language Models Using Retrieval Augmented GenerationSemantic proximity Read

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

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

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

Leveraging Open-Source Large Language Models to Identify Undiagnosed Patients with Rare Genetic AortopathiesSemantic proximity Read

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