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This paper presents a comprehensive systematic review of generative models (GANs, VAEs, DMs, and LLMs) used to synthesize various medical data types, including imaging (dermoscopic, mammographic, ultrasound, CT, MRI, and X-ray), text,…

Publicly accessible benchmarks that allow for assessing and comparing model performances are important drivers of progress in artificial intelligence (AI). While recent advances in AI capabilities hold the potential to transform medical…

Artificial Intelligence · Computer Science 2022-12-26 Kathrin Blagec , Jakob Kraiger , Wolfgang Frühwirt , Matthias Samwald

The genotype-phenotype gap is a persistent barrier to complex trait genetic dissection, worsened by the explosive growth of genomic data (1.5 billion variants identified in the UK Biobank WGS study) alongside persistently scarce and…

Artificial intelligence (AI) systems have the potential to revolutionize clinical practices, including improving diagnostic accuracy and surgical decision-making, while also reducing costs and manpower. However, it is important to recognize…

Artificial Intelligence · Computer Science 2024-09-18 Yifan Yang , Mingquan Lin , Han Zhao , Yifan Peng , Furong Huang , Zhiyong Lu

The limited data availability due to strict privacy regulations and significant resource demands severely constrains biomedical time-series AI development, which creates a critical gap between data requirements and accessibility. Synthetic…

Machine Learning · Computer Science 2025-11-25 Youngjoon Lee , Seongmin Cho , Yehhyun Jo , Jinu Gong , Hyunjoo Jenny Lee , Joonhyuk Kang

DNA sequencing is becoming increasingly commonplace, both in medical and direct-to-consumer settings. To promote discovery, collected genomic data is often de-identified and shared, either in public repositories, such as OpenSNP, or with…

Machine Learning · Computer Science 2022-12-21 Rajagopal Venkatesaramani , Bradley A. Malin , Yevgeniy Vorobeychik

The rapid integration of Artificial Intelligence (AI) into medical diagnostics has raised pressing concerns about patient privacy, especially when sensitive imaging data must be transferred, stored, or processed. In this paper, we propose a…

Cryptography and Security · Computer Science 2025-07-30 Abdullah Al Siam , Sadequzzaman Shohan

Despite the promises of data-driven artificial intelligence (AI), little is known about how we can bridge the gulf between traditional physician-driven diagnosis and a plausible future of medicine automated by AI. Specifically, how can we…

Human-Computer Interaction · Computer Science 2021-02-12 Hongyan Gu , Jingbin Huang , Lauren Hung , Xiang 'Anthony' Chen

Translating the vast data generated by genomic platforms into reliable predictions of clinical outcomes remains a critical challenge in realizing the promise of genomic medicine largely due to small number of independent samples. In this…

Quantitative Methods · Quantitative Biology 2019-04-04 Safoora Yousefi , Amirreza Shaban , Mohamed Amgad , Ramraj Chandradevan , Lee A. D. Cooper

Inherited retinal diseases (IRDs) are a diverse group of genetic disorders that lead to progressive vision loss and are a major cause of blindness in working-age adults. The complexity and heterogeneity of IRDs pose significant challenges…

Image and Video Processing · Electrical Eng. & Systems 2024-10-15 Han Trinh , Jordan Vice , Jason Charng , Zahra Tajbakhsh , Khyber Alam , Fred K. Chen , Ajmal Mian

Artificial Intelligence (AI) and Machine-Learning (ML) models have been increasingly used in medical products, such as medical device software. General considerations on the statistical aspects for the evaluation of AI/ML-enabled medical…

Methodology · Statistics 2023-03-10 Feiming Chen , Hong Laura Lu , Arianna Simonetti

Human-AI interfaces play a pivotal role in integrating clinicians' expertise with artificial intelligence to enhance both healthcare practice and research. However, designing effective interfaces in this domain remains a significant…

Human-Computer Interaction · Computer Science 2026-01-21 Rui Sheng , Chuhan Shi , Sobhan Lotfi , Shiyi Liu , Adam Perer , Huamin Qu , Furui Cheng

A major challenge in biomedical data science is to identify the causal genes underlying complex genetic diseases. Despite the massive influx of genome sequencing data, identifying disease-relevant genes remains difficult as individuals with…

Genomics · Quantitative Biology 2020-01-20 Borislav H. Hristov , Bernard Chazelle , Mona Singh

This paper introduces BioAgent Bench, a benchmark dataset and an evaluation suite designed for measuring the performance and robustness of AI agents in common bioinformatics tasks. The benchmark contains curated end-to-end tasks (e.g.,…

Artificial Intelligence · Computer Science 2026-05-08 Dionizije Fa , Marko Culjak , Bruno Pandza , Mateo Cupic

Despite considerable progress in developing artificial intelligence (AI) algorithms for prostate cancer detection from whole slide images, the clinical applicability of these models remains limited due to variability in pathological…

Tissues and Organs · Quantitative Biology 2024-06-12 T. J. Hart , Chloe Engler Hart , Spencer Hopson , Paul M. Urie , Dennis Della Corte

Artificial intelligence (AI)-enabled digital interventions, including Generative AI (GenAI) and Human-Centered AI (HCAI), are increasingly used to expand access to digital psychiatry and mental health care. This PRISMA-ScR scoping review…

Computers and Society · Computer Science 2026-03-18 Yang Ni , Fanli Jia

The data revolution holds significant promise for the health sector. Vast amounts of data collected from individuals will be transformed into knowledge, AI models, predictive systems, and best practices. One area of health that stands to…

Cryptography and Security · Computer Science 2024-07-15 Zahra Rahmani , Nahal Shahini , Nadav Gat , Zebin Yun , Yuzhou Jiang , Ofir Farchy , Yaniv Harel , Vipin Chaudhary , Mahmood Sharif , Erman Ayday

Clinical coding is crucial for healthcare billing and data analysis. Manual clinical coding is labour-intensive and error-prone, which has motivated research towards full automation of the process. However, our analysis, based on US English…

Computation and Language · Computer Science 2025-06-19 Yidong Gan , Maciej Rybinski , Ben Hachey , Jonathan K. Kummerfeld

To facilitate the widespread acceptance of AI systems guiding decision-making in real-world applications, it is key that solutions comprise trustworthy, integrated human-AI systems. Not only in safety-critical applications such as…

Artificial Intelligence · Computer Science 2020-01-16 Florian Buettner , John Piorkowski , Ian McCulloh , Ulli Waltinger

With the recent developments in neuroscience and engineering, it is now possible to record brain signals and decode them. Also, a growing number of stimulation methods have emerged to modulate and influence brain activity. Current…

Systems and Control · Electrical Eng. & Systems 2024-01-18 Hoda Fares , Margherita Ronchini , Milad Zamani , Hooman Farkhani , Farshad Moradi
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