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arXiv 2023年

作者： Lekadir, Karim Feragen, Aasa Fofanah, Abdul Joseph Frangi, Alejandro F. Buyx, Alena Emelie, Anais Lara, Andrea Porras, Antonio R. Chan, An-Wen Navarro, Arcadi Glocker, Ben Botwe, Benard O. Khanal, Bishesh Beger, Brigit Wu, Carol C. Cintas, Celia Langlotz, Curtis P. Rueckert, Daniel Mzurikwao, Deogratias Fotiadis, Dimitrios I. Zhussupov, Doszhan Ferrante, Enzo Meijering, Erik Weicken, Eva González, Fabio A. Asselbergs, Folkert W. Prior, Fred Krestin, Gabriel P. Collins, Gary S. Tegenaw, Geletaw S. Kaissis, Georgios Misuraca, Gianluca Tsakou, Gianna Dwivedi, Girish Kondylakis, Haridimos Jayakody, Harsha Woodruf, Henry C. Mayer, Horst Joachim Aerts, Hugo JWL Walsh, Ian Chouvarda, Ioanna Buvat, Irène Tributsch, Isabell Rekik, Islem Duncan, James Kalpathy-Cramer, Jayashree Zahir, Jihad Park, Jinah Mongan, John Gichoya, Judy W. Schnabel, Julia A. Kushibar, Kaisar Riklund, Katrine Mori, Kensaku Marias, Kostas Amugongo, Lameck M. Fromont, Lauren A. Maier-Hein, Lena Alberich, Leonor Cerdá Rittner, Leticia Phiri, Lighton Marrakchi-Kacem, Linda Donoso-Bach, Lluís Martí-Bonmatí, Luis Cardoso, M. Jorge Bobowicz, Maciej Shabani, Mahsa Tsiknakis, Manolis Zuluaga, Maria A. Bielikova, Maria Fritzsche, Marie-Christine Camacho, Marina Linguraru, Marius George Wenzel, Markus De Bruijne, Marleen Tolsgaard, Martin G. Ghassemi, Marzyeh Ashrafuzzaman, Md Goisauf, Melanie Yaqub, Mohammad Abadía, Mónica Cano Mahmoud, Mukhtar M.E. Elattar, Mustafa Rieke, Nicola Papanikolaou, Nikolaos Lazrak, Noussair Díaz, Oliver Salvado, Olivier Pujol, Oriol Sall, Ousmane Guevara, Pamela Gordebeke, Peter Lambin, Philippe Brown, Pieta Abolmaesumi, Purang Dou, Qi Lu, Qinghua Osuala, Richard Nakasi, Rose Zhou, S. Kevin Napel, Sandy Colantonio, Sara Albarqouni, Shadi Joshi, Smriti Carter, Stacy Klein, Stefan Petersen, Steffen E. Aussó, Susanna Awate, Suyash Raviv, Tammy Riklin Cook, Tessa Mutsvangwa, Tinashe E.M. Rogers, Wendy A. Niessen, Wiro J. Puig-Bosch, Xènia Zeng, Yi Mohammed, Yunusa G. Aquino, Yves Saint James Salahuddin, Zohaib Starmans, Martijn P.A. Department de Matemàtiques i Informàtica Universitat de Barcelona Barcelona Spain Barcelona Spain DTU Compute Technical University of Denmark Kgs Lyngby Denmark Department of Mathematics and Computer Science Faculty of Science and Technology Milton Margai Technical University Freetown Sierra Leone Center for Computational Imaging & Simulation Technologies in Biomedicine Schools of Computing and Medicine University of Leeds Leeds United Kingdom Cardiovascular Science and Electronic Engineering Departments KU Leuven Leuven Belgium Institute of History and Ethics in Medicine Technical University of Munich Munich Germany Faculty of Engineering of Systems Informatics and Sciences of Computing Galileo University Guatemala City Guatemala Department of Biostatistics and Informatics Colorado School of Public Health University of Colorado Anschutz Medical Campus AuroraCO United States Department of Medicine Women’s College Research Institute University of Toronto Toronto Canada Universitat Pompeu Fabra BarcelonaBeta Brain Research Center Barcelona Spain Department of Computing Imperial College London London United Kingdom School of Biomedical & Allied Health Sciences University of Ghana Accra Ghana Department of Midwifery & Radiography School of Health & Psychological Sciences City University of London United Kingdom Kathmandu Nepal European Heart Network Brussels Belgium Department of Thoracic Imaging University of Texas MD Anderson Cancer Center Houston United States IBM Research Africa Nairobi Kenya Departments of Radiology Medicine and Biomedical Data Science Stanford University School of Medicine Stanford United States Institute for AI and Informatics in Medicine Klinikum rechts der Isar Technical University Munich Munich Germany Department of Computing Imperial College London London United Kingdom Muhimbili University of Health and Allied Sciences Dar es Salaam Tanzania United Republic of Ioannina Greece Almaty AI Lab Almaty Kazakhstan

Background: Despite major advances in artificial intelligence (AI) research for healthcare, the deployment and adoption of AI technologies remain limited in clinical practice. In recent years, concerns have been raised about the clinical, technical, ethical and legal risks associated with healthcare AI. To increase adoption in the real world, it is essential that AI technologies are trusted and accepted by patients, clinicians, health organisations and authorities. This paper describes the FUTURE-AI framework as the first international consensus guideline for trustworthy AI in healthcare. Methods: The FUTURE-AI consortium was founded in 2021 and now comprises 117 interdisciplinary experts from 50 countries representing all continents, including AI scientists, clinical researchers, biomedical ethicists, and social scientists. Over a two-year period, the consortium established guiding principles and best practices for trustworthy and deployable AI through an iterative process comprising an in-depth literature review, a modified Delphi survey, and online consensus meetings. Findings: The FUTURE-AI framework was established based on six guiding principles for trustworthy AI in healthcare, i.e. Fairness, Universality, Traceability, Usability, Robustness and Explainability. Through consensus, a set of 30 best practices were defined, addressing technical, clinical, socio-ethical and legal dimensions of trustworthy AI. The recommendations cover the entire lifecycle of healthcare AI, from design, development and validation to regulation, deployment, and monitoring. Interpretation: FUTURE-AI is a structured, risk-informed framework which provides guidance for constructing healthcare AI tools that will be trusted, deployed and adopted in real-world clinical practice. Researchers are encouraged to take the recommendations into account in proof-of-concept stages to facilitate future translation towards clinical practice of healthcare AI. Copyright © 2023, The Authors. All rights

关键词： Clinical research

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The power of specialty palliative care: moving towards a systems perspective

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The Lancet Haematology 2021年第5期8卷 e376-e381页

作者： Barnato, Amber E Khayal, Inas S The Dartmouth Institute for Health Policy and Clinical Practice Geisel School of Medicine at Dartmouth Lebanon NH United States Department of Biomedical Data Science Geisel School of Medicine at Dartmouth Lebanon NH United States Section of Palliative Care Department of Medicine Dartmouth-Hitchcock Medical Center Lebanon NH United States Department of Computer Science Dartmouth College Hanover NH United States Cancer Population Sciences Program Norris Cotton Cancer Center Lebanon NH United States

Three palliative care clinical trials were presented at the 2020 American Society for Clinical Oncology Annual Meeting. The heterogeneity in populations, models of care, study design, and assessment of clinical outcomes across these three studies show the broad opportunities for research into interventions for palliative care. In this Viewpoint, we summarise the characteristics of these studies, discuss their novel features and lingering questions, and offer a suggestion for further expanding the focus of clinical trials for delivery of palliative care in the future. We particularly argue that the propensity to characterise palliative care as if it was a clinical or biomedical intervention hampers the design and evaluation of complex clinical interventions that influence clinicians, systems for health-care delivery, individual patients, and their families. © 2021 Elsevier Ltd

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The Minimum Information about CLinical Artificial Intelligence Checklist for Generative Modeling Research (MI-CLAIM-GEN)

arXiv

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arXiv 2024年

作者： Miao, Brenda Y. Chen, Irene Y. Williams, Christopher Y.K. Davidson, Jaysón Garcia-Agundez, Augusto Sun, Shenghuan Zack, Travis Saria, Suchi Arnaout, Rima Quer, Giorgio Sadaei, Hossein J. Torkamani, Ali Beaulieu-Jones, Brett Yu, Bin Gianfrancesco, Milena Butte, Atul J. Norgeot, Beau Sushil, Madhumita Bakar Computational Health Sciences Institute University of California San Francisco San FranciscoCA United States UCSF-UC Berkeley Joint Program in Computational Precision Health University of California Berkeley University of California San Francisco BerkeleyCA United States Department of Electrical Engineering and Computer Sciences University of California Berkeley BerkeleyCA United States Berkeley AI Research University of California Berkeley BerkeleyCA United States Department of Medicine Division of Rheumatology University of California San Francisco San FranciscoCA United States Helen Diller Family Comprehensive Cancer Center University of California San Francisco San FranciscoCA United States Center for Data-driven Insights and Innovation University of California Office of the President OaklandCA United States Bayesian Health New YorkNY10282 United States Department of Computer Science Johns Hopkins University Whiting School of Engineering BaltimoreMD United States Department of Health Policy & Management Johns Hopkins University Bloomberg School of Public Health BaltimoreMD United States Department of Medicine Johns Hopkins Medicine BaltimoreMD21205 United States Departments of Medicine Radiology and Pediatrics University of California San Francisco San FranciscoCA United States Scripps Research Translational Institute La Jolla CA United States Department of Integrative Structural and Computational Biology Scripps Research La Jolla CA92037 United States Department of Medicine University of Chicago ChicagoIL United States Department of Statistics University of California Berkeley BerkeleyCA United States Center for Computational Biology University of California Berkeley BerkeleyCA United States Qualified Health PBC Palo AltoCA United States

Recent advances in generative models, including large language models (LLMs), vision language models (VLMs), and diffusion models, have accelerated the field of natural language and image processing in medicine and marked a significant paradigm shift in how biomedical models can be developed and deployed. While these models are highly adaptable to new tasks, scaling and evaluating their usage presents new challenges not addressed in previous frameworks. In particular, the ability of these models to produce useful outputs with little to no specialized training data ("zero-" or "few-shot" approaches), as well as the open-ended nature of their outputs, necessitate the development of new guidelines for robust reporting of clinical generative model research. In response to gaps in standards and best practices for the development of clinical AI tools identified by US Executive Order 141103 and several emerging national networks for clinical AI evaluation, we begin to formalize some of these guidelines by building on the original MI-CLAIM checklist. The new checklist, MI-CLAIM-GEN (Table 1), aims to address differences in training, evaluation, interpretability, and reproducibility of new generative models compared to non-generative ("predictive") AI models. This MI-CLAIM-GEN checklist also seeks to clarify cohort selection reporting with unstructured clinical data and adds additional items on alignment with ethical standards for clinical AI research. © 2024, CC BY.

关键词： Generative adversarial networks

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An Open-Source Knowledge Graph Ecosystem for the Life sciences

arXiv

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arXiv 2023年

作者： Callahan, Tiffany J. Tripodi, Ignacio J. Stefanski, Adrianne L. Cappelletti, Luca Taneja, Sanya B. Wyrwa, Jordan M. Casiraghi, Elena Matentzoglu, Nicolas A. Reese, Justin Silverstein, Jonathan C. Hoyt, Charles Tapley Boyce, Richard D. Malec, Scott A. Unni, Deepak R. Joachimiak, Marcin P. Robinson, Peter N. Mungall, Christopher J. Cavalleri, Emanuele Fontana, Tommaso Valentini, Giorgio Mesiti, Marco Gillenwater, Lucas A. Santangelo, Brook Vasilevsky, Nicole A. Hoehndorf, Robert Bennett, Tellen D. Ryan, Patrick B. Hripcsak, George Kahn, Michael G. Bada, Michael Baumgartner, William A. Hunter, Lawrence E. Computational Bioscience Program University of Colorado Anschutz Medical Campus AuroraCO80045 United States Department of Biomedical Informatics Columbia University Irving Medical Center New YorkNY10032 United States Computer Science Department Interdisciplinary Quantitative Biology University of Colorado Boulder BoulderCO80301 United States AnacletoLab Computer Science Department University of Milan 20122 Italy Intelligent Systems Program University of Pittsburgh PittsburghPA15260 United States Department of Physical Medicine and Rehabilitation School of Medicine University of Colorado Anschutz Medical Campus AuroraCO80045 United States Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory BerkeleyCA94720 United States Semanticly Ltd Athens Greece Department of Biomedical Informatics University of Pittsburgh School of Medicine PittsburghPA15206 United States Laboratory of Systems Pharmacology Harvard Medical School BostonMA02115 United States Division of Translational Informatics University of New Mexico School of Medicine AlbuquerqueNM87131 United States SIB Swiss Institute of Bioinformatics Basel Switzerland Berlin Institute of Health at Charité-Universitatsmedizin Berlin10117 Germany ELLIS European Laboratory for Learning and Intelligent Systems Germany Department of Biomedical Informatics University of Colorado School of Medicine AuroraCO80045 United States Data Collaboration Center Critical Path Institute 1840 E River Rd. Suite 100 TucsonAZ85718 United States Computer Electrical and Mathematical Sciences & Engineering Division Computational Bioscience Research Center King Abdullah University of Science and Technology Thuwal23955-6900 Saudi Arabia Department of Pediatrics University of Colorado School of Medicine AuroraCO80045 United States Janssen Research and Development RaritanNJ08869 United States Division of General Internal Medicine University of Colorado School of Medicine A

Translational research requires data at multiple scales of biological organization. Advancements in sequencing and multi-omics technologies have increased the availability of these data, but researchers face significant integration challenges. Knowledge graphs (KGs) are used to model complex phenomena, and methods exist to construct them automatically. However, tackling complex biomedical integration problems requires flexibility in the way knowledge is modeled. Moreover, existing KG construction methods provide robust tooling at the cost of fixed or limited choices among knowledge representation models. PheKnowLator (Phenotype Knowledge Translator) is a semantic ecosystem for automating the FAIR (Findable, Accessible, Interoperable, and Reusable) construction of ontologically grounded KGs with fully customizable knowledge representation. The ecosystem includes KG construction resources (e.g., data preparation APIs), analysis tools (e.g., SPARQL endpoints and abstraction algorithms), and benchmarks (e.g., prebuilt KGs and embeddings). We evaluated the ecosystem by systematically comparing it to existing open-source KG construction methods and by analyzing its computational performance when used to construct 12 large-scale KGs. With flexible knowledge representation, PheKnowLator enables fully customizable KGs without compromising performance or usability. © 2023, CC BY.

关键词： Ecosystems

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Explainable AI: Definition and attributes of a good explanation for health AI

arXiv

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arXiv 2024年

作者： Kyrimi, Evangelia McLachlan, Scott Wohlgemut, Jared M. Perkins, Zane B. Lagnado, David A. Marsh, William Gimson, Alexander Shafti, Ali Ercole, Ari Banerjee, Amitava Glocker, Ben Schafer, Burkhard Gatsonis, Constantine Grosan, Crina Sent, Danielle Berman, David S. Glass, David O'Regan, Declan P. Letsios, Dimitrios Morrissey, Dylan Pisirir, Erhan Leofante, Francesco Soyel, Hamit Williamson, Jon Grieman, Keri Dube, Kudakwashe Mardsen, Max Nagendran, Myura Tai, Nigel Kostopoulou, Olga Jones, Owain Curzon, Paul Stoner, Rebecca S. Tandle, Sankalp Joshi, Shalmali Mossadegh, Somayyeh Buijsman, Stefan Miller, Tim Madai, Vince Istvan School of Electronic Engineering and Computer Science Queen Mary University of London London United Kingdom School of Nursing Midwifery and Palliative Care King's College London London United Kingdom Centre for Trauma Sciences Blizard Institute Queen Mary University of London London United Kingdom Royal London Hospital Barts Health NHS Trust London United Kingdom Department of Experiment Psychology University College London London United Kingdom Cambridge Liver Unit Addenbrooke's Hospital Cambridge University Hospitals Hills Road Box 210 Cambridge United Kingdom University of Cambridge United Kingdom Cambridge Consultants Ltd. United Kingdom Division of Anaesthesia Cambridge Centre for AI in Medicine University of Cambridge Cambridge United Kingdom Magdelene College University of Cambridge United Kingdom Institute of Health Informatics University College London London United Kingdom Department of Computing Imperial College London London United Kingdom SCRIPT Centre for IT and IP Law School of Law University of Edinburgh United Kingdom Center for Statistical Sciences School of Public Health Brown University Providence United States Research Group Artificial Intelligence HU University of Applied Sciences Utrecht Netherlands Jheronimus Academy of Data Science Tilburg University Eindhoven University of Technology s-Hertogenbosch Netherlands Centre for Theoretical Physics Queen Mary University of London London United Kingdom School of Computing Ulster University Belfast United Kingdom MRC Laboratory of Medical Sciences Imperial College London London United Kingdom Department of Informatics King's College London United Kingdom Physiotherapy Department Barts Health NHS Trust London United Kingdom Sport and Exercise Medicine Queen Mary University of London London United Kingdom School of Electronic Engineering and Computer Science Queen Mary University of London United Kingdom Department of Computing Imperial College London United Kingdom Departmen

Proposals of artificial intelligence (AI) solutions based on increasingly complex and accurate predictive models are becoming ubiquitous across many disciplines. As the complexity of these models grows, transparency and users' understanding often diminish. This suggests that accurate prediction alone is insufficient for making an AI-based solution truly useful. In the development of healthcare systems, this introduces new issues related to accountability and safety. Understanding how and why an AI system makes a recommendation may require complex explanations of its inner workings and reasoning processes. Although research on explainable AI (XAI) has significantly increased in recent years and there is high demand for XAI in medicine, defining what constitutes a good explanation remains ad hoc, and providing adequate explanations continues to be challenging. To fully realize the potential of AI, it is critical to address two fundamental questions about explanations for safety-critical AI applications, such as health-AI: (1) What is an explanation in health-AI? and (2) What are the attributes of a good explanation in health-AI? In this study, we examined published literature and gathered expert opinions through a two-round Delphi study. The research outputs include (1) a definition of what constitutes an explanation in health-AI and (2) a comprehensive list of attributes that characterize a good explanation in health-AI. © 2024, CC BY.

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BigNeuron: a resource to benchmark and predict performance of algorithms for automated tracing of neurons in light microscopy datasets

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Nature methods 2023年第6期20卷 824-835页

作者： Linus Manubens-Gil Zhi Zhou Hanbo Chen Arvind Ramanathan Xiaoxiao Liu Yufeng Liu Alessandro Bria Todd Gillette Zongcai Ruan Jian Yang Miroslav Radojević Ting Zhao Li Cheng Lei Qu Siqi Liu Kristofer E Bouchard Lin Gu Weidong Cai Shuiwang Ji Badrinath Roysam Ching-Wei Wang Hongchuan Yu Amos Sironi Daniel Maxim Iascone Jie Zhou Erhan Bas Eduardo Conde-Sousa Paulo Aguiar Xiang Li Yujie Li Sumit Nanda Yuan Wang Leila Muresan Pascal Fua Bing Ye Hai-Yan He Jochen F Staiger Manuel Peter Daniel N Cox Michel Simonneau Marcel Oberlaender Gregory Jefferis Kei Ito Paloma Gonzalez-Bellido Jinhyun Kim Edwin Rubel Hollis T Cline Hongkui Zeng Aljoscha Nern Ann-Shyn Chiang Jianhua Yao Jane Roskams Rick Livesey Janine Stevens Tianming Liu Chinh Dang Yike Guo Ning Zhong Georgia Tourassi Sean Hill Michael Hawrylycz Christof Koch Erik Meijering Giorgio A Ascoli Hanchuan Peng Institute for Brain and Intelligence Southeast University Nanjing China. Microsoft Corporation Redmond WA USA. Tencent AI Lab Bellevue WA USA. Computing Environment and Life Sciences Directorate Argonne National Laboratory Lemont IL USA. Kaya Medical Seattle WA USA. University of Cassino and Southern Lazio Cassino Italy. Center for Neural Informatics Structures and Plasticity Krasnow Institute for Advanced Study George Mason University Fairfax VA USA. Faculty of Information Technology Beijing University of Technology Beijing China. Beijing International Collaboration Base on Brain Informatics and Wisdom Services Beijing China. Nuctech Netherlands Rotterdam the Netherlands. Janelia Research Campus Howard Hughes Medical Institute Ashburn VA USA. Department of Electrical and Computer Engineering University of Alberta Edmonton Alberta Canada. Ministry of Education Key Laboratory of Intelligent Computation and Signal Processing Anhui University Hefei China. Paige AI New York NY USA. Scientific Data Division and Biological Systems and Engineering Division Lawrence Berkeley National Lab Berkeley CA USA. Helen Wills Neuroscience Institute and Redwood Center for Theoretical Neuroscience UC Berkeley Berkeley CA USA. RIKEN AIP Tokyo Japan. Research Center for Advanced Science and Technology (RCAST) The University of Tokyo Tokyo Japan. School of Computer Science University of Sydney Sydney New South Wales Australia. Texas A&M University College Station TX USA. Cullen College of Engineering University of Houston Houston TX USA. Graduate Institute of Biomedical Engineering National Taiwan University of Science and Technology Taipei Taiwan. National Centre for Computer Animation Bournemouth University Poole UK. PROPHESEE Paris France. Department of Neuroscience Columbia University New York NY USA. Mortimer B. Zuckerman Mind Brain Behavior Institute Columbia University New York NY USA. Department of Computer Science Northern Illinois Universit

BigNeuron is an open community bench-testing platform with the goal of setting open standards for accurate and fast automatic neuron tracing. We gathered a diverse set of image volumes across several species that is representative of the data obtained in many neuroscience laboratories interested in neuron tracing. Here, we report generated gold standard manual annotations for a subset of the available imaging datasets and quantified tracing quality for 35 automatic tracing algorithms. The goal of generating such a hand-curated diverse dataset is to advance the development of tracing algorithms and enable generalizable benchmarking. Together with image quality features, we pooled the data in an interactive web application that enables users and developers to perform principal component analysis, t-distributed stochastic neighbor embedding, correlation and clustering, visualization of imaging and tracing data, and benchmarking of automatic tracing algorithms in user-defined data subsets. The image quality metrics explain most of the variance in the data, followed by neuromorphological features related to neuron size. We observed that diverse algorithms can provide complementary information to obtain accurate results and developed a method to iteratively combine methods and generate consensus reconstructions. The consensus trees obtained provide estimates of the neuron structure ground truth that typically outperform single algorithms in noisy datasets. However, specific algorithms may outperform the consensus tree strategy in specific imaging conditions. Finally, to aid users in predicting the most accurate automatic tracing results without manual annotations for comparison, we used support vector machine regression to predict reconstruction quality given an image volume and a set of automatic tracings.

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GREGoR: Accelerating Genomics for Rare Diseases

arXiv

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arXiv 2024年

作者： Dawood, Moez Heavner, Ben Wheeler, Marsha M. Ungar, Rachel A. LoTempio, Jonathan Wiel, Laurens Berger, Seth Bernstein, Jonathan A. Chong, Jessica X. Délot, Emmanuèle C. Eichler, Evan E. Gibbs, Richard A. Lupski, James R. Shojaie, Ali Talkowski, Michael E. Wagner, Alex H. Wei, Chia-Lin Wellington, Christopher Wheeler, Matthew T. Carvalho, Claudia M.B. Gifford, Casey A. May, Susanne Miller, Danny E. Rehm, Heidi L. Sedlazeck, Fritz J. Vilain, Eric O'Donnell-Luria, Anne Posey, Jennifer E. Chadwick, Lisa H. Bamshad, Michael J. Montgomery, Stephen B. Human Genome Sequencing Center Baylor College of Medicine HoustonTX United States Department of Molecular and Human Genetics Baylor College of Medicine HoustonTX United States Medical Scientist Training Program Baylor College of Medicine HoustonTX United States Department of Biostatistics University of Washington SeattleWA United States Department of Genetics School of Medicine Stanford University StanfordCA United States Department of Pathology School of Medicine Stanford University Stanford CA United States Stanford Center for Biomedical Ethics School of Medicine Stanford University Stanford CA United States Institute for Clinical and Translational Science University of California IrvineCA United States Division of Cardiovascular Medicine School of Medicine Stanford University Stanford CA United States Division of Genetics and Metabolism Children’s National Rare Disease Institute WashingtonDC United States Center for Genetic Medicine Research Children’s National Rare Disease Institute WashingtonDC United States Department of Genomics and Precision Medicine George Washington University WashingtonDC United States Department of Pediatrics School of Medicine Stanford University Stanford CA United States Department of Pediatrics Dvision of Genetic Medicine University of Washington SeattleWA United States Brotman Baty Institute for Precision Medicine University of Washington SeattleWA United States Department of Genome Sciences University of Washington SeattleWA United States Howard Hughes Medical Institute University of Washington SeattleWA United States Department of Pediatrics Baylor College of Medicine HoustonTX United States Center for Genomic Medicine Massachusetts General Hospital BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard BostonMA United States Department of Neurology Massachusetts General Hospital Harvard Medical School BostonMA United States Stanley Center for

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic data science Analysis, Visualization, and Informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://***/data). The majority of these families have undergone prior clinical genetic testing but remained unsolved, with most being exome-negative. Here, we describe the collaborative research framework, datasets, and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics. © 2024, CC BY.

关键词： Genome

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Hidden figures underlying quality measures: revealing hidden racial inequalities in end-of-life cancer care delivery: a cohort study

The Lancet Regional Health - Americas

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The Lancet Regional Health - Americas 2025年 47卷

作者： Inas S. Khayal John J. Shin Gabriel A. Brooks Amber E. Barnato Ellesse-Roselee Akré Terri Lewinson Amro M. Farid A. James O'Malley The Dartmouth Institute for Health Policy and Clinical Practice Geisel School of Medicine at Dartmouth Lebanon NH 03756 USA Biomedical Data Science Geisel School of Medicine at Dartmouth Lebanon NH 03756 USA Department of Computer Science Dartmouth College Hanover NH 03755 USA Cancer Population Sciences Program Dartmouth Cancer Center Lebanon NH 03756 USA Department of Medicine Dartmouth Hitchcock Medical Center Lebanon NH 03756 USA Section of Palliative Care Department of Medicine Dartmouth Hitchcock Medical Center Lebanon NH 03756 USA Department of Health Policy and Management Johns Hopkins Bloomberg School of Public Health Baltimore MD 21205 USA Department of Systems Engineering School of Engineering and Science Stevens Institute of Technology Hoboken NJ 07030 USA Department of Mathematics Dartmouth College Hanover NH 03755 USA

Background Calls for healthcare systems to reduce disparities in cancer care access and outcomes draw on comparisons of existing measures across race and ethnicity subgroups. This approach may hide inequities driven by systematic bias in the timing of care delivery. The goals of this study were to: (1) identify differences in the timing of care delivery between racial groups, and (2) determine whether these differences could be identified from quality measures. Methods Retrospective decedent follow-back study of hospitals treating Medicare fee-for-service beneficiaries with advanced cancer aged 65–99 who died April–December 2016. Among hospitals serving at least 11 decedents of color (including Black or African-American, Asian/Pacific Islander, Hispanic, American Indian/Alaska Native, and Other) and 11 White decedents, we calculated hospital-level differences between White decedents and decedents of color for 1) any use of palliative care and hospice (Measures) and 2) daily counts of palliative care and hospice use for each day in the 6 months before death (Signatures). Findings The cohort included 30,319 decedents across 217 hospitals, of whom 7,852 (25.9%) were people of color (POC). The median of the hospital-specific aggregate measure difference was −5.35% (IQR = 12.83) for palliative care, indicating more POC received any palliative care, and 3.66% (IQR = 12.45) for hospice care, indicating more White people (WP) received any hospice care. We identified 5 high-level cluster-group descriptions of inequality from signatures. Inequality information from signatures matched those from measures in only 46.5% and 39.2% of hospitals for palliative and hospice care, respectively. Interpretation Signatures incorporating timing of care delivery using longitudinal data revealed patterns of racial-ethnic inequalities in end-of-life cancer care otherwise missed by traditional aggregate quality measures. Funding This work was supported by the American Cancer Society Award (RS

关键词： Racial/ethnic healthcare inequities Palliative care Hospice care Healthcare quality indicators

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A Robust Ensemble Algorithm for Ischemic Stroke Lesion Segmentation: Generalizability and Clinical Utility Beyond the ISLES Challenge

arXiv

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arXiv 2024年

作者： de la Rosa, Ezequiel Reyes, Mauricio Liew, Sook-Lei Hutton, Alexandre Wiest, Roland Kaesmacher, Johannes Hanning, Uta Hakim, Arsany Zubal, Richard Valenzuela, Waldo Robben, David Sima, Diana M. Anania, Vincenzo Brys, Arne Meakin, James A. Mickan, Anne Broocks, Gabriel Heitkamp, Christian Gao, Shengbo Liang, Kongming Zhang, Ziji Siddiquee, Md Mahfuzur Rahman Myronenko, Andriy Ashtari, Pooya Van Huffel, Sabine Jeong, Hyun-Su Yoon, Chi-Ho Kim, Chulhong Huo, Jiayu Ourselin, Sebastien Sparks, Rachel Clèrigues, Albert Oliver, Arnau Lladó, Xavier Chalcroft, Liam Pappas, Ioannis Bertels, Jeroen Heylen, Ewout Moreau, Juliette Hatami, Nima Frindel, Carole Qayyum, Abdul Mazher, Moona Puig, Domenec Lin, Shao-Chieh Juan, Chun-Jung Hu, Tianxi Boone, Lyndon Goubran, Maged Liu, Yi-Jui Wegener, Susanne Kofler, Florian Ezhov, Ivan Shit, Suprosanna Hernandez Petzsche, Moritz R. Menze, Bjoern Kirschke, Jan S. Wiestler, Benedikt Department of Quantitative Biomedicine University of Zurich Zurich Switzerland Department of Informatics Technical University Munich Germany Icometrix Leuven Belgium ARTORG Center for Biomedical Research University of Bern Bern Switzerland Department of Radiation Oncology University Hospital Bern University of Bern Switzerland University of Bern Bern Switzerland Chan Division of Occupational Science and Occupational Therapy University of Southern California Los AngelesCA United States Stevens Neuroimaging and Informatics Institute Department of Neurology Keck School of Medicine University of Southern California United States University Institute of Diagnostic and Interventional Neuroradiology Inselspital Bern Switzerland University Institute of Diagnostic and Interventional Neuroradiology University Hospital Bern Inselspital University of Bern Bern Switzerland Department of Diagnostic and Interventional neuroradiology University Medical Center Hamburg-Eppendorf Hamburg Germany Department of Medical Imaging Radboud University Medical Center Institute for Health Sciences Nijmegen Netherlands Deepwise AI Lab Beijing China Beijing University of Posts and Telecommunications Bejing China School of Computing and Augmented Intelligence Arizona State University TempeAZ United States NVIDIA Santa ClaraCA United States STADIUS Center for Dynamical Systems Signal Processing and Data Analytics KU Leuven Leuven Belgium Pohang Korea Republic of School of Biomedical Engineering & Imaging Sciences King’s College London United Kingdom Institute of Computer Vision and Robotics University of Girona Spain Wellcome Centre for Human Neuroimaging University College London London United Kingdom Laboratory of Neuro Imaging Stevens Institute for Neuroimaging and Informatics Keck School of Medicine University of Southern California Los Angeles United States KU Leuven Leuven Belgium CREATIS Université Lyon1 CNRS UMR5220 INSERM U1206 INSA-Lyon Villeurbanne696

Diffusion-weighted MRI (DWI) is essential for stroke diagnosis, treatment decisions, and prognosis. However, image and disease variability hinder the development of generalizable AI algorithms with clinical value. We address this gap by presenting a novel ensemble algorithm derived from the 2022 Ischemic Stroke Lesion Segmentation (ISLES) challenge. ISLES’22 provided 400 patient scans with ischemic stroke from various medical centers, facilitating the development of a wide range of cutting-edge segmentation algorithms by the research community. By assessing them against a hidden test set, we identified strengths, weaknesses, and potential biases. Through collaboration with leading teams, we combined top-performing algorithms into an ensemble model that overcomes the limitations of individual solutions. Our ensemble model combines the individual algorithms’ strengths and achieved superior ischemic lesion detection and segmentation accuracy (median Dice score: 0.82, median lesion-wise F1 score: 0.86) on our internal test set compared to individual algorithms. This accuracy generalized well across diverse image and disease variables. Furthermore, the model excelled in extracting clinical biomarkers like lesion types and affected vascular territories. Notably, in a Turing-like test, neuroradiologists consistently preferred the algorithm’s segmentations over manual expert efforts, highlighting increased comprehensiveness and precision. Validation using a real-world external dataset (N=1686) confirmed the model’s generalizability (median Dice score: 0.82, median lesion-wise F1 score: 0.86). The algorithm’s outputs also demonstrated strong correlations with clinical scores (admission NIHSS and 90-day mRS) on par with or exceeding expert-derived results, underlining its clinical relevance. This study offers two key findings. First, we present an ensemble algorithm that detects and segments ischemic stroke lesions on DWI across diverse scenarios on par with expert (neuro)rad

关键词： Diagnosis

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Masses of Sunyaev-Zel’dovich Galaxy Clusters Detected by The Atacama Cosmology Telescope: Stacked Lensing Measurements with Subaru HSC Year 3 data

arXiv

引用

arXiv 2024年

作者： Shirasaki, Masato Sifón, Cristóbal Miyatake, Hironao Lau, Erwin Zhang, Zhuowen Bahcall, Neta Battaglia, Nicholas Devlin, Mark Dunkley, Jo Farahi, Arya Hilton, Matt Lin, Yen-Ting Nagai, Daisuke Staggs, Suzanne T. Sunayama, Tomomi Spergel, David Wollack, Edward J. National Institutes of Natural Science Mitaka Tokyo181-8588 Japan The Institute of Statistical Mathematics Tachikawa Tokyo190-8562 Japan Instituto de Física Pontificia Universidad Católica de Valparaíso Valparaíso Casilla4059 Chile Nagoya University Nagoya464-8602 Japan Institute for Advanced Research Nagoya University Nagoya464-8601 Japan The University of Tokyo Chiba277-8583 Japan Center for Astrophysics Harvard & Smithsonian 60 Garden St CambridgeMA02138 United States Department of Astronomy and Astrophysics University of Chicago 5640 S. Ellis Ave ChicagoIL60637 United States Fermilab Kirk & Pine Road BataviaIL60510 United States Department of Astrophysical Sciences Princeton University Peyton Hall PrincetonNJ08544 United States Department of Astronomy Cornell University IthacaNY14853 United States Department of Physics and Astronomy University of Pennsylvania 209 South 33rd Street PhiladelphiaPA United States Joseph Henry Laboratories of Physics Princeton University Jadwin Hall PrincetonNJ08544 United States Department of Statistics and Data Science The University of Texas AustinTX78712 United States Wits Centre for Astrophysics School of Physics University of the Witwatersrand Private Bag 3 Johannesburg2050 South Africa Astrophysics Research Centre School of Mathematics Statistics and Computer Science University of KwaZulu-Natal Westville Campus Durban4041 South Africa Institute of Astronomy and Astrophysics Academia Sinica Taipei10617 Taiwan Department of Physics Yale University New HavenCT06520 United States Steward Observatory University of Arizona TucsonAZ85704 United States Simons Foundation 160 Fifth Avenue NY NY10010 United States NASA/Goddard Space Flight Center GreenbeltMD20771 United States

We present a stacked lensing analysis of 96 galaxy clusters selected by the thermal Sunyaev-Zel’dovich (SZ) effect in maps of the cosmic microwave background (CMB). We select foreground galaxy clusters with a 5σ-level SZ threshold in CMB observations from the Atacama Cosmology Telescope, while we define background source galaxies for the lensing analysis with secure photometric redshift cuts in Year 3 data of the Subaru Hyper Suprime Cam survey. We detect the stacked lensing signal in the range of 0.1 −1Mpc] 14 h−1M), our likelihood analysis shows that the average total mass differs from the SZ counterpart by a factor of 1.3 ± 0.2, 1.6 ± 0.2, and 1.6 ±0.3 (68%) in the aforementioned redshift ranges, respectively. Our limits are consistent with previous lensing measurements, and we find that the cluster modeling choices can introduce a 1σ-level difference in our parameter inferences. © 2024, CC BY.

关键词： Cosmology

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