AI applications in genomics and pathology informatics, including generative AI

Machine Learning for Predicting Stroke Risk Stratification Using Multiomics Data: Systematic Review

Hae Young Yoo, Hyerim Shin, Eun-Jung Kim, Youn-Jung Son

J Med Internet Res 2026 (Feb 19); 28:e85654

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Ranking-Aware Multiple Instance Learning for Histopathology Slide Classification: Development and Validation Study

Ho Heon Kim, Gisu Hwang, Won Chan Jeong, Young Sin Ko

JMIR Med Inform 2026 (Feb 04); 14:e84417

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Identification and Localization of Breast Tumor Components via a Convolutional Neural Network Based on High-Frequency Ultrasound Combined With Histopathologic Registration: Prospective Study

Jia-Qian Yao, Wen-Wen Zhou, Zhi-Fei Chai, Fei Ren, Tong-Yi Huang, Tian-Tian Zhen, Hui-Juan Shi, Xiao-Yan Xie, Ze Zhao, Ming Xu

JMIR Med Inform 2026 (Jan 23); 14:e81181

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Development of Venous Thromboembolism Risk Prediction Models Based on Whole Blood Gene Expression Profiling Using 20 Machine Learning Algorithms: Comprehensive Analysis Study

Yedong Huang, Xiaoyun Chen, Guannan Bai, Yajun Zhao, Dapeng Kuang, Lin Zhang, Wei Lu

JMIR Med Inform 2026 (Jan 16); 14:e75565

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Unpacking Genomic Biomarkers for Programmed Cell Death Receptor-1 Immunotherapy Success in Non–Small Cell Lung Cancer Using Deep Neural Networks: Quantitative Study

Rayan Mubarak, Fahim Islam Anik, Jean T Rodriguez, Nazmus Sakib, Mohammad A Rahman

JMIR Bioinform Biotech 2026 (Jan 13); 7:e70553

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Systematic Mining of Bioactive Compounds for Wound Healing From Cayratia Japonica Exosome-Like Nanovesicles: A Workflow Combining LC-MS and DeepSeek Models

Qiang Fu, Wei Ji, Yu-Ping Fan, Jian Yao, Ming-Xia Song, Qiao-Jing Yan

JMIR Bioinform Biotech 2026 (Jan 08); 7:e80539

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Association of the Transmembrane Protease Serine 6 rs855791 Variant and Nongenetic Factors With Iron Deficiency Among Female Medical Students in Yogyakarta: Protocol for a Case-Control Study

Fenty Fenty, Erna Kristin, Tri Ratnaningsih, Supanji Supanji, Jajah Fachiroh, Dwi Aris Agung Nugrahaningsih

JMIR Res Protoc 2025 (Oct 29); 14:e79555

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Conversational Artificial Intelligence for Integrating Social Determinants, Genomics, and Clinical Data in Precision Medicine: Development and Implementation Study of the AI-HOPE-PM System

Ei-Wen Yang, Brigette Waldrup, Enrique Velazquez-Villarreal

JMIR Bioinform Biotech 2025 (Oct 10); 6:e76553

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Systemic Anticancer Therapy Timelines Extraction From Electronic Medical Records Text: Algorithm Development and Validation

Jiarui Yao, Eli Goldner, Harry Hochheiser, Sean Finan, John Levander, David Harris, Piet C de Groen, Elizabeth Buchbinder, Danielle Bitterman, Jeremy L Warner, Guergana Savova

JMIR Bioinform Biotech 2025 (Sep 03); 6:e67801

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Consumer Data is Key to Artificial Intelligence Value: Welcome to the Health Care Future

James P Cummings

J Particip Med 2025 (Aug 01); 17:e68261

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Framework for Race-Specific Prostate Cancer Detection Using Machine Learning Through Gene Expression Data: Feature Selection Optimization Approach

David Agustriawan, Adithama Mulia, Marlinda Vasty Overbeek, Vincent Kurniawan, Jheno Syechlo, Moeljono Widjaja, Muhammad Imran Ahmad

JMIR Bioinform Biotech 2025 (Jul 31); 6:e72423

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Automating Colon Polyp Classification in Digital Pathology by Evaluation of a “Machine Learning as a Service” AI Model: Algorithm Development and Validation Study

David Beyer, Evan Delancey, Logan McLeod

JMIR Form Res 2025 (Jul 31); 9:e67457

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Using Natural Language Processing to Identify Symptomatic Adverse Events in Pediatric Oncology: Tutorial for Clinician Researchers

Clifton P Thornton, Maryam Daniali, Lei Wang, Spandana Makeneni, Allison Barz Leahy

JMIR Bioinform Biotech 2025 (Jul 24); 6:e70751

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Extracting Knowledge From Scientific Texts on Patient-Derived Cancer Models Using Large Language Models: Algorithm Development and Validation Study

Jiarui Yao, Zinaida Perova, Tushar Mandloi, Elizabeth Lewis, Helen Parkinson, Guergana Savova

JMIR Bioinform Biotech 2025 (Jun 30); 6:e70706

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Public Awareness of and Attitudes Toward the Use of AI in Pathology Research and Practice: Mixed Methods Study

Claire Lewis, Jenny Groarke, Lisa Graham-Wisener, Jacqueline James

J Med Internet Res 2025 (Apr 02); 27:e59591

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Evaluating and Enhancing Japanese Large Language Models for Genetic Counseling Support: Comparative Study of Domain Adaptation and the Development of an Expert-Evaluated Dataset

Takuya Fukushima, Masae Manabe, Shuntaro Yada, Shoko Wakamiya, Akiko Yoshida, Yusaku Urakawa, Akiko Maeda, Shigeyuki Kan, Masayo Takahashi, Eiji Aramaki

JMIR Med Inform 2025 (Jan 16); 13:e65047

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Eco-Evolutionary Drivers of Vibrio parahaemolyticus Sequence Type 3 Expansion: Retrospective Machine Learning Approach

Amy Marie Campbell, Chris Hauton, Ronny van Aerle, Jaime Martinez-Urtaza

JMIR Bioinform Biotech 2024 (Nov 28); 5:e62747

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Exploring the Potential of Claude 3 Opus in Renal Pathological Diagnosis: Performance Evaluation

Xingyuan Li, Ke Liu, Yanlin Lang, Zhonglin Chai, Fang Liu

JMIR Med Inform 2024 (Nov 15); 12:e65033

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Exploring the Intersection of Schizophrenia, Machine Learning, and Genomics: Scoping Review

Alexandre Hudon, Mélissa Beaudoin, Kingsada Phraxayavong, Stéphane Potvin, Alexandre Dumais

JMIR Bioinform Biotech 2024 (Nov 15); 5:e62752

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Deep Learning–Based Identification of Tissue of Origin for Carcinomas of Unknown Primary Using MicroRNA Expression: Algorithm Development and Validation

Ananya Raghu, Anisha Raghu, Jillian F Wise

JMIR Bioinform Biotech 2024 (Jul 24); 5:e56538

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