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Abstract

Integrating artificial intelligence (AI), particularly large language models (LLMs), into the healthcare industry is revolutionizing the field of medicine. LLMs possess the capability to analyze the scientific literature and genomic data by comprehending and producing human-like text. This enhances the accuracy, precision, and efficiency of extensive genomic analyses through contextualization. LLMs have made significant advancements in their ability to understand complex genetic terminology and accurately predict medical outcomes. These capabilities allow for a more thorough understanding of genetic influences on health issues and the creation of more effective therapies. This review emphasizes LLMs’ significant impact on healthcare, evaluates their triumphs and limitations in genomic data processing, and makes recommendations for addressing these limitations in order to enhance the healthcare system. It explores the latest advancements in LLMs for genomic analysis, focusing on enhancing disease diagnosis and treatment accuracy by taking into account an individual’s genetic composition. It also anticipates a future in which AI-driven genomic analysis is commonplace in clinical practice, suggesting potential research areas. To effectively leverage LLMs’ potential in personalized medicine, it is vital to actively support innovation across multiple sectors, ensuring that AI developments directly contribute to healthcare solutions tailored to individual patients.

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1009240
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Title
Large Language Models in Genomics—A Perspective on Personalized Medicine
Author
Ali, Shahid 1   VIAFID ORCID Logo  ; Qadri Yazdan Ahmad 2   VIAFID ORCID Logo  ; Khurshid, Ahmad 3   VIAFID ORCID Logo  ; Lin Zhizhe 1   VIAFID ORCID Logo  ; Man-Fai, Leung 4   VIAFID ORCID Logo  ; Kim, Sung Won 2   VIAFID ORCID Logo  ; Vasilakos, Athanasios V 5   VIAFID ORCID Logo  ; Zhou, Teng 1   VIAFID ORCID Logo 

 School of Cyberspace Security, Hainan University, Haikou 570228, China; [email protected] (S.A.); [email protected] (Z.L.) 
 School of Computer Science and Engineering, Yeungnam University, 280, Daehak-ro, Gyeongsan-si 38541, Gyeongsangbuk-do, Republic of Korea; [email protected] (Y.A.Q.); [email protected] (S.W.K.) 
 Department of Health Informatics, College of Applied Medical Sciences, Qassim University, Buraydah 51452, Saudi Arabia; [email protected] 
 School of Computing and Information Science, Anglia Ruskin University, Cambridge CB1 1PT, UK; [email protected] 
 Department of Information and Communication Technology, University of Agder, 4879 Grimstad, Norway 
Publication title
Volume
12
Issue
5
First page
440
Publication year
2025
Publication date
2025
Publisher
MDPI AG
Place of publication
Basel
Country of publication
Switzerland
Publication subject
e-ISSN
23065354
Source type
Scholarly Journal
Language of publication
English
Document type
Journal Article
Publication history
 
 
Online publication date
2025-04-23
Milestone dates
2025-04-01 (Received); 2025-04-22 (Accepted)
Publication history
 
 
   First posting date
23 Apr 2025
ProQuest document ID
3211859438
Document URL
https://www.proquest.com/scholarly-journals/large-language-models-genomics-perspective-on/docview/3211859438/se-2?accountid=208611
Copyright
© 2025 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (https://creativecommons.org/licenses/by/4.0/). Notwithstanding the ProQuest Terms and Conditions, you may use this content in accordance with the terms of the License.
Last updated
2025-05-28
Database
2 databases
  • Coronavirus Research Database
  • ProQuest One Academic