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Augmenting Large Language Models via Vector Embeddings to Improve Domain-Specific Responsiveness
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Leveraging Large Language Models for Cancer Variant Classification: A Comparative Study of GPT-4o, LLaMA 3, and Qwen
Kuan-Hsun Lin1,2, Paul Chih-Hsueh Chen3,4, Chen-Tsung Kuo1,2
1Department of Information Management, Taipei Veterans General Hospital, Taipei, 11267, Taiwan, R.O.C.
Studies in Health Technology and Informatics
|August 8, 2025
Abstract
Background:
Interpreting genomic variants from cancer sequencing data is a critical yet complex task in precision oncology. With advances in large language models (LLMs), there is increasing interest in leveraging their capacity for variant classification. This study benchmarks three state-of-the-art LLMs - GPT-4o, LLaMA 3, and Qwen 2.5 - on curated cancer variant databases to assess their utility in clinical genomic interpretation.
Keywords:
CIViCCancer Variant ClassificationClinical GenomicsGenomic ProfilingLarge Language ModelsOncoKBPrecision Oncology
