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Although traditional statistical techniques and machine learning methods have contributed significantly to genetics and, in particular, inherited disease diagnosis, they often struggle with complex, high-dimensional data, a challenge now…

Machine Learning · Computer Science 2025-08-29 Anton Changalidis , Yury Barbitoff , Yulia Nasykhova , Andrey Glotov

Automatic disease diagnosis has become increasingly valuable in clinical practice. The advent of large language models (LLMs) has catalyzed a paradigm shift in artificial intelligence, with growing evidence supporting the efficacy of LLMs…

Recent advances in artificial intelligence, particularly large language models LLMs, have shown promising capabilities in transforming rare disease research. This survey paper explores the integration of LLMs in the analysis of rare…

Computation and Language · Computer Science 2025-05-26 Valentina Carbonari , Pierangelo Veltri , Pietro Hiram Guzzi

The integration of Large Language Models (LLMs) into the drug discovery and development field marks a significant paradigm shift, offering novel methodologies for understanding disease mechanisms, facilitating drug discovery, and optimizing…

Quantitative Methods · Quantitative Biology 2024-09-10 Yizhen Zheng , Huan Yee Koh , Maddie Yang , Li Li , Lauren T. May , Geoffrey I. Webb , Shirui Pan , George Church

Large Language models (LLMs) have emerged as powerful tools for addressing challenges across diverse domains. Notably, recent studies have demonstrated that large language models significantly enhance the efficiency of biomolecular analysis…

Computation and Language · Computer Science 2025-03-07 Jiyue Jiang , Zikang Wang , Yuheng Shan , Heyan Chai , Jiayi Li , Zixian Ma , Xinrui Zhang , Yu Li

With the exponential increase in online scientific literature, identifying reliable domain-specific data has become increasingly important but also very challenging. Manual data collection and filtering for domain-specific scientific…

Information Retrieval · Computer Science 2026-03-10 Nikita Gautam , Doina Caragea , Ignacio Ciampitti , Federico Gomez

Emerging topics in biomedical research are continuously expanding, providing a wealth of information about genes and their function. This rapid proliferation of knowledge presents unprecedented opportunities for scientific discovery and…

Genomics · Quantitative Biology 2024-12-25 Zhijian Chen , Chuan Hu , Min Wu , Qingqing Long , Xuezhi Wang , Yuanchun Zhou , Meng Xiao

Large language models (LLMs) have emerged as powerful tools for medical information retrieval, yet their accuracy and depth remain limited in specialized domains such as Alzheimer's disease (AD), a growing global health challenge. To…

Understanding the interactions between biomarkers among brain regions during neurodegenerative disease is essential for unravelling the mechanisms underlying disease progression. For example, pathophysiological models of Alzheimer's Disease…

Artificial Intelligence · Computer Science 2025-11-17 Tiantian He , An Zhao , Elinor Thompson , Anna Schroder , Ahmed Abdulaal , Frederik Barkhof , Daniel C. Alexander

This paper explores the advancements and applications of large-scale models in the medical field, with a particular focus on Medical Large Models (MedLMs). These models, encompassing Large Language Models (LLMs), Vision Models, 3D Large…

Artificial Intelligence · Computer Science 2025-10-08 YunHe Su , Zhengyang Lu , Junhui Liu , Ke Pang , Haoran Dai , Sa Liu , Yuxin Jia , Lujia Ge , Jing-min Yang

The classification of genetic variants, particularly Variants of Uncertain Significance (VUS), poses a significant challenge in clinical genetics and precision medicine. Large Language Models (LLMs) have emerged as transformative tools in…

Large Language Models (LLMs) are revolutionizing bioinformatics, enabling advanced analysis of DNA, RNA, proteins, and single-cell data. This survey provides a systematic review of recent advancements, focusing on genomic sequence modeling,…

Computation and Language · Computer Science 2026-03-03 Zhenyu Wang , Zikang Wang , Jiyue Jiang , Pengan Chen , Xiangyu Shi , Yu Li

Recent advancements in artificial intelligence (AI), especially large language models (LLMs), have significantly advanced healthcare applications and demonstrated potentials in intelligent medical treatment. However, there are conspicuous…

Computation and Language · Computer Science 2025-05-26 Qinkai Yu , Mingyu Jin , Dong Shu , Chong Zhang , Lizhou Fan , Wenyue Hua , Suiyuan Zhu , Yanda Meng , Zhenting Wang , Mengnan Du , Yongfeng Zhang

Large language models (LLMs) are having transformative impacts across a wide range of scientific fields, particularly in the biomedical sciences. Just as the goal of Natural Language Processing is to understand sequences of words, a major…

Genomics · Quantitative Biology 2024-09-24 Gonzalo Benegas , Chengzhong Ye , Carlos Albors , Jianan Canal Li , Yun S. Song

Background: Identification of the interactions and regulatory relations between biomolecules play pivotal roles in understanding complex biological systems and the mechanisms underlying diverse biological functions. However, the collection…

Computation and Language · Computer Science 2025-04-24 Gilchan Park , Byung-Jun Yoon , Xihaier Luo , Vanessa López-Marrero , Shinjae Yoo , Shantenu Jha

Pre-trained large language models(LLMs) have attracted increasing attention in biomedical domains due to their success in natural language processing. However, the complex traits and heterogeneity of multi-sources genomics data pose…

Computation and Language · Computer Science 2025-11-25 Yanjun Lyu , Zihao Wu , Lu Zhang , Jing Zhang , Yiwei Li , Wei Ruan , Zhengliang Liu , Zeyu Zhang , Xiang Li , Rongjie Liu , Chao Huang , Wentao Li , Tianming Liu , Dajiang Zhu

Generative Large Language Models (LLMs) hold significant promise in healthcare, demonstrating capabilities such as passing medical licensing exams and providing clinical knowledge. However, their current use as information retrieval tools…

Large Language Models (LLMs) show promise in biomedicine but lack true causal understanding, relying instead on correlations. This paper envisions causal LLM agents that integrate multimodal data (text, images, genomics, etc.) and perform…

Artificial Intelligence · Computer Science 2025-05-23 Adib Bazgir , Amir Habibdoust Lafmajani , Yuwen Zhang

Identifying disease interconnections through manual analysis of large-scale clinical data is labor-intensive, subjective, and prone to expert disagreement. While machine learning (ML) shows promise, three critical challenges remain: (1)…

The rapid advancement of large language models (LLMs) has opened new boundaries in the extraction and synthesis of medical knowledge, particularly within evidence synthesis. This paper reviews the state-of-the-art applications of LLMs in…

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