Lucy Ham, Taylor E Woodward, Megan A Coomer, Michael P H Stumpf
{"title":"Mapping, Modeling, and Reprogramming Cell-Fate Decision-Making Systems.","authors":"Lucy Ham, Taylor E Woodward, Megan A Coomer, Michael P H Stumpf","doi":"10.1146/annurev-biodatasci-101424-121439","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-101424-121439","url":null,"abstract":"<p><p>Many cellular processes involve information processing and decision-making. We can probe these processes at increasing molecular detail. The analysis of heterogeneous data remains a challenge that requires new ways of thinking about cells in quantitative, predictive, and mechanistic ways. We discuss the role of mathematical models in the context of cell-fate decision-making systems across the tree of life. Complex multicellular organisms have been a particular focus, but single-celled organisms also have to sense and respond to their environment. We center our discussion around the idea of design principles that we can learn from observations and modeling and exploit in order to (re)-design or guide cellular behavior.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"143984534","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":"https://doi.org/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":""},"PeriodicalIF":7.0,"publicationDate":"2025-05-01","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}
Hope Zehr, Alberto Baiardi, Francesco Tacchino, Anthony Gandon, Laurin E Fischer, Yue Xu, Frank P DiFilippo, Leonardo Guidoni, Pi A B Haase, Walter N Talarico, Martina Stella, Fabio Tarocco, Anton Nykänen, Aaron Fitzpatrick, Aaron Miller, Leander Thiessen, Stefan Knecht, Elsi-Mari Borrelli, Sabrina Maniscalco, Fabijan Pavošević, Ivano Tavernelli, Edward Maytin, Vijay Krishna
{"title":"Quantum Computing for Photosensitizer Design in Photodynamic Therapy.","authors":"Hope Zehr, Alberto Baiardi, Francesco Tacchino, Anthony Gandon, Laurin E Fischer, Yue Xu, Frank P DiFilippo, Leonardo Guidoni, Pi A B Haase, Walter N Talarico, Martina Stella, Fabio Tarocco, Anton Nykänen, Aaron Fitzpatrick, Aaron Miller, Leander Thiessen, Stefan Knecht, Elsi-Mari Borrelli, Sabrina Maniscalco, Fabijan Pavošević, Ivano Tavernelli, Edward Maytin, Vijay Krishna","doi":"10.1146/annurev-biodatasci-103123-095644","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-103123-095644","url":null,"abstract":"<p><p>Use of light in healthcare is evolving with increasing applications of photodynamic therapy (PDT) for treating various cancers. PDT utilizes light-activated molecules called photosensitizers (PSs) that generate reactive oxygen species (ROSs) to induce tumor cell apoptosis and necrosis. However, the use of PDT is limited by the availability of PSs that can be activated by deep tissue-penetrating near-infrared light, exhibit low dark toxicity, and produce ROSs efficiently. Here we review the different categories of PS currently used in clinical or preclinical trials and highlight the significance of advanced computational methods, including density functional and wave function-based quantum chemistry, for understanding the molecular mechanisms involved in PS activation. Despite advancements in classical computational techniques, the complexities of excited state dynamics in highly correlated molecular systems demand innovative simulation approaches such as quantum computing. We propose that quantum computing holds promise for accurately modeling the excited-state properties of PSs to optimize their design and broaden clinical applications.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144017049","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}
Justin Kauffman, Riccardo Miotto, Eyal Klang, Anthony Costa, Beau Norgeot, Marinka Zitnik, Shameer Khader, Fei Wang, Girish N Nadkarni, Benjamin S Glicksberg
{"title":"Embedding Methods for Electronic Health Record Research.","authors":"Justin Kauffman, Riccardo Miotto, Eyal Klang, Anthony Costa, Beau Norgeot, Marinka Zitnik, Shameer Khader, Fei Wang, Girish N Nadkarni, Benjamin S Glicksberg","doi":"10.1146/annurev-biodatasci-103123-094729","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-103123-094729","url":null,"abstract":"<p><p>This review aims to elucidate the role and impact of embedding techniques in the analysis and utilization of electronic health record data for research. By integrating multidimensional, incongruent, and often unstructured medical data for machine learning models, embeddings provide a powerful tool for enhancing data utility, especially under certain conditions and for asking certain questions. We explore a variety of embedding methods, including but not limited to word embeddings, graph embeddings, and other deep learning models. We highlight key applications of embeddings that are representative of a variety of areas of research, including predictive modeling, patient stratification, clinical decision support, and beyond. Finally, we show how to evaluate the impact and quality of embeddings in real-world clinical settings, assessing their performance against traditional models and noting areas where they deliver substantial improvements or fall short.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-05-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144048052","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}
Anthony L Lin, Amanda B Parrish, Michael Cary, Christina Silcox, Suresh Balu, J Eric Jelovsek, Cara O'Brien, Michael Pencina, Eric Poon, Nicoleta J Economou-Zavlanos
{"title":"Algorithm-Based Clinical Decision Support: Evolving Regulatory Landscape and Best Practices for Local Oversight.","authors":"Anthony L Lin, Amanda B Parrish, Michael Cary, Christina Silcox, Suresh Balu, J Eric Jelovsek, Cara O'Brien, Michael Pencina, Eric Poon, Nicoleta J Economou-Zavlanos","doi":"10.1146/annurev-biodatasci-103123-094601","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-103123-094601","url":null,"abstract":"<p><p>The potential of algorithm-based clinical decision support (CDS) in healthcare continues to increase with the growing field of artificial intelligence (AI)-enabled CDS. The use of these technologies to support clinicians, patients, and health systems is still quite new, and to date, implementors and regulators are still identifying the best processes and practices to ensure the effective, safe, and equitable use of these technology solutions. To assist individuals and organizations interested in implementation of algorithm-based CDS and AI-enabled CDS in healthcare, this article reviews the important regulatory decisions that form the landscape within which algorithm-based CDS has emerged, modern governance frameworks used to oversee these CDS systems, nuances in evaluation and monitoring throughout the CDS life cycle, best practices for real-world implementation, safety and equity considerations, and avenues for future collaboration and innovation.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-21","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144022132","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":"Biomedical Natural Language Processing in the Era of Large Language Models.","authors":"Naoto Usuyama, Cliff Wong, Sheng Zhang, Tristan Naumann, Hoifung Poon","doi":"10.1146/annurev-biodatasci-103123-095406","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-103123-095406","url":null,"abstract":"<p><p>Biomedicine has rapidly digitized over recent decades, from genomic sequencing to electronic medical records. Now, the rise of large language models (LLMs) is driving a generative artificial intelligence (AI) revolution in natural language processing (NLP). Together, these trends create unprecedented possibilities to optimize patient care and accelerate biomedical discovery. Biomedical NLP already boosts productivity by automating labor-intensive tasks such as knowledge extraction and medical abstraction. Emerging approaches promise creativity gain, surpassing standard healthcare practices and uncovering emergent capabilities through Web-scale biomedical knowledge and population-level patient data. However, LLMs remain prone to hallucinations and omissions, and ensuring compliance and safety is vital in order to do no harm. Incorporating diverse modalities such as imaging and genomics is also essential for comprehensive solutions. We review these challenges and opportunities in biomedical NLP, offering historical context, surveying the current state of the art, and exploring frontiers for AI researchers and biomedical practitioners.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-17","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144052846","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}
Ryan Baker, Josep Bassaganya-Riera, Nuria Tubau-Juni, Andrew J Leber, Raquel Hontecillas
{"title":"The TITAN-X Platform Integrates Big Data, Artificial Intelligence, Bioinformatics, and Advanced Computational Modeling to Understand Immune Responses and Develop the Next Wave of Precision Medicines.","authors":"Ryan Baker, Josep Bassaganya-Riera, Nuria Tubau-Juni, Andrew J Leber, Raquel Hontecillas","doi":"10.1146/annurev-biodatasci-103123-094804","DOIUrl":"https://doi.org/10.1146/annurev-biodatasci-103123-094804","url":null,"abstract":"<p><p>The TITAN-X Precision Medicine Platform was engineered to rapidly, fully, and efficiently utilize large-scale immunology datasets, including public data, in drug discovery and development. TITAN-X integrates big data with artificial intelligence (AI), bioinformatics, and advanced computational modeling to seamlessly transition from early target discovery to clinical testing of new therapeutics, developing biomarker-driven precision medicines tailored to specific patient populations. We illustrate the capabilities of TITAN-X through four case studies, demonstrating its use in computationally driven target discovery; characterization of novel immunometabolic mechanisms in infectious, inflammatory, and autoimmune diseases; and identification of biomarker signatures for patient stratification in clinical trials designed to maximize therapeutic efficacy and safety. Data-driven and AI-powered approaches like TITAN-X are enhancing the pace of drug development, reducing costs, tailoring treatments, and increasing the probability of success in clinical trials.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-16","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":null,"resultStr":null,"platform":"Semanticscholar","paperid":"144039901","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":"https://doi.org/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":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-16","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}
{"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":"https://doi.org/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":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-09","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":"https://doi.org/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 undermines 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 and be competent in its use.</p>","PeriodicalId":29775,"journal":{"name":"Annual Review of Biomedical Data Science","volume":" ","pages":""},"PeriodicalIF":7.0,"publicationDate":"2025-04-09","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}