{"title":"Conditional Generative Models for Synthetic Tabular Data: Applications for Precision Medicine and Diverse Representations.","authors":"Kara Liu, Russ B Altman","doi":"10.1146/annurev-biodatasci-103123-094844","DOIUrl":"10.1146/annurev-biodatasci-103123-094844","url":null,"abstract":"<p><p>Tabular medical datasets, like electronic health records (EHRs), biobanks, and structured clinical trial data, are rich sources of information with the potential to advance precision medicine and optimize patient care. However, real-world medical datasets have limited patient diversity and cannot simulate hypothetical outcomes, both of which are necessary for equitable and effective medical research. Fueled by recent advancements in machine learning, generative models offer a promising solution to these data limitations by generating enhanced synthetic data. This review highlights the potential of conditional generative models (CGMs) to create patient-specific synthetic data for a variety of precision medicine applications. We survey CGM approaches that tackle two medical applications: correcting for data representation biases and simulating digital health twins. We additionally explore how the surveyed methods handle modeling tabular medical data and briefly discuss evaluation criteria. Finally, we summarize the technical, medical, and ethical challenges that must be addressed before CGMs can be effectively and safely deployed in the medical field.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"21-49"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"142984817","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Integrative Data Science in Drug Safety Research: Experiences, Challenges, and Perspectives.","authors":"Ferran Sanz","doi":"10.1146/annurev-biodatasci-103123-095506","DOIUrl":"10.1146/annurev-biodatasci-103123-095506","url":null,"abstract":"<p><p>Pharmaceutical research and development largely depend on the quantity and quality of data that are available to support projects. The secondary use of data by means of collaborative and integrative approaches is yielding promising results in drug safety research. However, there are challenges that must be overcome in these integrative approaches, such as interoperability issues, intellectual property protection, and, in the case of clinical information, personal data safeguards. The OMOP common data model and the EHDEN and DARWIN EU platforms constitute successful examples of data sharing initiatives in the clinical domain, while the eTOX, eTRANSAFE, and VICT3R international projects are examples of corporate data sharing in toxicology research. The VICT3R project is using these shared data for generating virtual control groups to be applied in nonclinical drug safety assessment. Drug-related knowledge bases that integrate information from different sources also constitute useful tools in the drug safety domain.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"275-285"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765289","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Vivian Utti, Vasiliki Bikia, Ank A Agarwal, Roxana Daneshjou
{"title":"Integrating Artificial Intelligence in Dermatological Cancer Screening and Diagnosis: Efficacy, Challenges, and Future Directions.","authors":"Vivian Utti, Vasiliki Bikia, Ank A Agarwal, Roxana Daneshjou","doi":"10.1146/annurev-biodatasci-103123-094521","DOIUrl":"10.1146/annurev-biodatasci-103123-094521","url":null,"abstract":"<p><p>Skin cancer is the most common cancer in the United States, with incidence rates continuing to rise both nationally and globally, posing significant health and economic burdens. These challenges are compounded by shortages in dermatological care and barriers to insurance access. To address these gaps, artificial intelligence (AI) and deep learning technologies offer promising solutions, enhancing skin cancer screening and diagnosis. AI has the potential to improve diagnostic accuracy and expand access to care, but significant challenges restrict its deployment. These challenges include clinical validation, algorithmic bias, regulatory oversight, and patient acceptance. Ethical concerns, such as disparities in access and fairness of AI algorithms, also require attention. In this review, we explore these limitations and outline future directions, including advancements in teledermatology and vision-language models (VLMs). Future research should focus on improving VLM reliability and interpretability and developing systems capable of integrating clinical context with dermatological images in a way that assists, rather than replaces, clinicians in making more accurate, timely diagnoses.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"591-603"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144001083","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Thodoris Koutsandreas, Kalliopi Tsafou, Heiko Horn, Ian Barrett, Evangelia Petsalaki
{"title":"Network-Based Approaches for Drug Target Identification.","authors":"Thodoris Koutsandreas, Kalliopi Tsafou, Heiko Horn, Ian Barrett, Evangelia Petsalaki","doi":"10.1146/annurev-biodatasci-101424-120950","DOIUrl":"10.1146/annurev-biodatasci-101424-120950","url":null,"abstract":"<p><p>Drug target identification is the first step in drug development, and its importance is underscored by the fact that, even when using genetic evidence to improve success rates, only a small fraction of lead targets end up approved for use in the clinic. One of the reasons for this is the lack of in-depth understanding of the complexity of human diseases.In this review we argue that network-based approaches, which are able to capture relationships between relevant genes and proteins, and diverse data modalities have high potential for improving drug target identification and drug repurposing. We present the evolution of network-based methods that have been developed for this purpose and discuss the limitations of these approaches that are holding them back from making an impact in the clinic. We finish by presenting our recommendations for overcoming these limitations, for example, by leveraging emerging technologies such as artificial intelligence and knowledge graphs.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"423-446"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144050632","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Zhiping Xiao, Bin Feng, Junwei Yang, Gongbo Sun, Yuxi Shen, Shengyuan Xu, Lina Yang, Hanwen Xu, Ming Zhang, Sheng Wang
{"title":"Artificial Intelligence in Pathology: Advancing Large Models for Scalable Applications.","authors":"Zhiping Xiao, Bin Feng, Junwei Yang, Gongbo Sun, Yuxi Shen, Shengyuan Xu, Lina Yang, Hanwen Xu, Ming Zhang, Sheng Wang","doi":"10.1146/annurev-biodatasci-103123-095814","DOIUrl":"10.1146/annurev-biodatasci-103123-095814","url":null,"abstract":"<p><p>The rapid development of artificial intelligence (AI) has had a significant impact on medical research, introducing new possibilities for pathology studies. There is a recent trend of applying large-scale AI models to many fields, and this trend has given rise to the pathology foundation models and pathology ensemble models. Large models in pathology are not standalone innovations; they build upon a legacy where AI has consistently played a vital role in pathology studies long before their advent. Numerous pathology datasets and AI models have been developed to support advancements in the field, with these combined efforts paving the way for the emergence of large models in pathology. AI greatly enhances pathology studies, yet its widespread use in sensitive applications also raises significant ethical concerns, including privacy risks. In this review, we summarize the datasets and models that are useful to pathology studies, with a particular focus on how they illuminate the path toward large-scale applications.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"8 1","pages":"149-171"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822750","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"From Prediction to Prescription: Machine Learning and Causal Inference for the Heterogeneous Treatment Effect.","authors":"Judith Abécassis, Élise Dumas, Julie Alberge, Gaël Varoquaux","doi":"10.1146/annurev-biodatasci-103123-095750","DOIUrl":"10.1146/annurev-biodatasci-103123-095750","url":null,"abstract":"<p><p>The increasing accumulation of medical data brings the hope of data-driven medical decision-making, but data's increasing complexity-as text or images in electronic health records-calls for complex models, such as machine learning. Here, we review how machine learning can be used to inform decisions for individualized interventions, a causal question. Going from prediction to causal effects is challenging, as no individual is seen as both treated and not. We detail how some data can support some causal claims and how to build causal estimators with machine learning. Beyond variable selection to adjust for confounding bias, we cover the broader notions of study design that make or break causal inference. As the problems span across diverse scientific communities, we use didactic yet statistically precise formulations to bridge machine learning to epidemiology.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"381-404"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144003572","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"Generative Artificial Intelligence: Implications for Biomedical and Health Professions Education.","authors":"William Hersh","doi":"10.1146/annurev-biodatasci-103123-094756","DOIUrl":"10.1146/annurev-biodatasci-103123-094756","url":null,"abstract":"<p><p>Generative artificial intelligence (AI) has had a profound impact on biomedicine and health, both in professional work and in education. Based on large language models (LLMs), generative AI has been found to perform as well as humans in simulated situations taking medical board exams, answering clinical questions, solving clinical cases, applying clinical reasoning, and summarizing information. Generative AI is also being used widely in education, performing well in academic courses and their assessments. This review summarizes the successes of LLMs and highlights some of their challenges in the context of education, most notably aspects that may undermine the acquisition of knowledge and skills for professional work. It then provides recommendations for best practices to overcome the shortcomings of LLM use in education. Although there are challenges for the use of generative AI in education, all students and faculty, in biomedicine and health and beyond, must have understanding of it and be competent in its use.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"355-380"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052507","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Su Golder, Karen O'Connor, Guillermo Lopez-Garcia, Nicholas P Tatonetti, Graciela Gonzalez-Hernandez
{"title":"Leveraging Unstructured Data in Electronic Health Records to Detect Adverse Events from Pediatric Drug Use: A Scoping Review.","authors":"Su Golder, Karen O'Connor, Guillermo Lopez-Garcia, Nicholas P Tatonetti, Graciela Gonzalez-Hernandez","doi":"10.1146/annurev-biodatasci-111224-124530","DOIUrl":"10.1146/annurev-biodatasci-111224-124530","url":null,"abstract":"<p><p>Adverse drug events (ADEs) in pediatric populations pose significant public health challenges, yet research on their detection and monitoring remains limited. This scoping review evaluates the use of unstructured data from electronic health records (EHRs) to identify ADEs in children. We searched six databases, including MEDLINE, Embase, and IEEE Xplore, in September 2024. From 984 records, only nine studies met our inclusion criteria, indicating a significant gap in research toward identifying ADEs in children. We found that unstructured data in EHRs can indeed be of value and enhance pediatric pharmacovigilance, although their use has been so far very limited. Traditional natural language processing methods have been employed to extract ADEs, but the approaches utilized face challenges in generalizability and context interpretation. These challenges could be addressed with recent advances in transformer-based models and large language models, unlocking the use of EHR data at scale for pediatric pharmacovigilance.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"8 1","pages":"227-250"},"PeriodicalIF":8.1,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822751","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
Yuehua Zhu, Weiguang Mao, Rezwan Hosseini, Maria Chikina
{"title":"Methylation Data Analysis and Interpretation.","authors":"Yuehua Zhu, Weiguang Mao, Rezwan Hosseini, Maria Chikina","doi":"10.1146/annurev-biodatasci-120924-091033","DOIUrl":"10.1146/annurev-biodatasci-120924-091033","url":null,"abstract":"<p><p>DNA methylation, a covalent modification, fundamentally shapes mammalian gene regulation and cellular identity. This review examines methylation's biochemical underpinnings, genomic distribution patterns, and analytical approaches. We highlight three distinctive aspects that separate methylation from other epigenetic marks: its remarkable stability as a silencing mechanism, its capacity to maintain distinct states independently of DNA sequence, and its effectiveness as a quantitative trait linking genotype to disease risk. We also explore the phenomenon of methylation clocks and their biological significance. The review addresses technical considerations across major assay types-both array-based technologies and sequencing approaches-with emphasis on data normalization, quality control, cell proportion inference, and the specialized statistical models required for next-generation sequencing analysis.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":"8 1","pages":"605-632"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144822753","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}
{"title":"The Development Landscape of Large Language Models for Biomedical Applications.","authors":"Zhiyuan Cao, Vipina K Keloth, Qianqian Xie, Lingfei Qian, Yuntian Liu, Yan Wang, Rui Shi, Weipeng Zhou, Gui Yang, Jeffrey Zhang, Xueqing Peng, Ethan Zhen, Ruey-Ling Weng, Qingyu Chen, Hua Xu","doi":"10.1146/annurev-biodatasci-102224-074736","DOIUrl":"10.1146/annurev-biodatasci-102224-074736","url":null,"abstract":"<p><p>Large language models (LLMs) have become powerful tools for biomedical applications, offering potential to transform healthcare and medical research. Since the release of ChatGPT in 2022, there has been a surge in LLMs for diverse biomedical applications. This review examines the landscape of text-based biomedical LLM development, analyzing model characteristics (e.g., architecture), development processes (e.g., training strategy), and applications (e.g., chatbots). Following PRISMA guidelines, 82 articles were selected out of 5,512 articles since 2022 that met our rigorous criteria, including the requirement of using biomedical data when training LLMs. Findings highlight the predominant use of decoder-only architectures such as Llama 7B, prevalence of task-specific fine-tuning, and reliance on biomedical literature for training. Challenges persist in balancing data openness with privacy concerns and detailing model development, including computational resources used. Future efforts would benefit from multimodal integration, LLMs for specialized medical applications, and improved data sharing and model accessibility.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":"251-274"},"PeriodicalIF":6.0,"publicationDate":"2025-08-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://www.ncbi.nlm.nih.gov/pmc/articles/PMC12372014/pdf/","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143765290","PeriodicalName":null,"FirstCategoryId":null,"ListUrlMain":null,"RegionNum":0,"RegionCategory":"","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":"OA","EPubDate":null,"PubModel":null,"JCR":null,"JCRName":null,"Score":null,"Total":0}