Jaeyun Jung
Chungbuk National University, South KoreaPresentation Title:
Development of AI-Based Genetic Variant Analysis Support Algorithms Using Large Language Models
Abstract
This study aims to develop an AI-driven algorithm leveraging large language models (LLMs) to support genetic variant analysis, addressing the growing need for automated interpretation platforms in precision medicine. We investigated various facets, including the construction of a comprehensive dataset for explaining genetic variants and the development of an interpretation algorithm using generative AI techniques. In the first year, we focus on employing LLMs, such as ChatGPT, in the medical field by gathering and preprocessing relevant literature data related to genetic variant interpretation. This effort leads to the pre-training and fine-tuning of an LLM constructed from this curated dataset, enhancing existing variant analysis algorithms and providing improved access to current medical knowledge. The integration of these LLMs with established tools like ANNOVAR and VEP facilitates the generation of automated clinical reports, significantly advancing precision medicine endeavors. Our methodology employs a two-phase learning process: initial pre-training on large unlabeled corpora, allowing LLMs to capture a broad linguistic scope, followed by fine-tuning with a targeted labeled dataset to optimize specific tasks efficiently. Furthermore, this study underscores the importance of tools like LiftOver to ensure compatibility between different reference genome versions, enhancing the consistency and accuracy of genetic variant interpretations across studies. By refining genetic variant analysis algorithms through these innovative approaches, we aim to provide robust, accurate, and reliable outcomes that will ultimately aid in clinical decision-making. Future work will focus on resolving issues related to liftover and establishing a comprehensive report generation service for genetic variants to assist physicians effectively.
Biography
Jaeyun Jung holds a Bachelor's degree in Life Sciences from KAIST(Korea Advanced Institute of Science and Technology) and obtained a D.V.M (Doctor of Veterinary Medicine) from Kyungpook National University in Korea. He earned her Master's and Ph.D. in Medical Science from Ulsan University College of Medicine in Korea. After completing a postdoctoral fellowship at Seoul National University in Korea, she conducted various cancer-related research as a researcher at Asan Medical Center and Samsung Medical Center in Korea. She served as a research professor at Sungkyunkwan University School of Medicine, and she is currently working as an assistant professor at Chungbuk National University Department of Medicine. She has published 25 SCI(E) papers in the fields of cancer biology, oncology, and genetics.
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