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arXiv 2023年

作者： Kazerooni, Anahita Fathi Khalili, Nastaran Liu, Xinyang Haldar, Debanjan Jiang, Zhifan Anwar, Syed Muhammed Albrecht, Jake Adewole, Maruf Anazodo, Udunna Anderson, Hannah Bagheri, Sina Baid, Ujjwal Bergquist, Timothy Borja, Austin J. Calabrese, Evan Chung, Verena Conte, Gian-Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Haldar, Shuvanjan Iglesias, Juan Eugenio Janas, Anastasia Johansen, Elaine Jones, Blaise V. Kofler, Florian LaBella, Dominic Lai, Hollie Anne Van Leemput, Koen Li, Hongwei Bran Maleki, Nazanin McAllister, Aaron S. Meier, Zeke Menze, Bjoern Moawad, Ahmed W. Nandolia, Khanak K. Pavaine, Julija Piraud, Marie Poussaint, Tina Prabhu, Sanjay P. Reitman, Zachary Rodriguez, Andres Rudie, Jeffrey D. Sanchez-Montano, Mariana Shaikh, Ibraheem Salman Shah, Lubdha M. Sheth, Nakul Shinohara, Russel Taki Tu, Wenxin Viswanathan, Karthik Wang, Chunhao Ware, Jeffrey B. Wiestler, Benedikt Wiggins, Walter Zapaishchykova, Anna Aboian, Mariam Bornhorst, Miriam de Blank, Peter Deutsch, Michelle Fouladi, Maryam Hoffman, Lindsey Kann, Benjamin Lazow, Margot Mikael, Leonie Nabavizadeh, Ali Packer, Roger Resnick, Adam Rood, Brian Vossough, Arastoo Bakas, Spyridon Linguraru, Marius George Children’s Hospital of Philadelphia PhiladelphiaPA United States Department of Neurosurgery University of Pennsylvania PhiladelphiaPA United States University of Pennsylvania PhiladelphiaPA United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Neurosurgery Thomas Jefferson University Hospital PA United States Sage Bionetworks United States Lab Crestview Radiology Lagos Nigeria McGill University MontrealQC Canada Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Neurosurgery The University of Southern California CA United States Department of Radiology Duke University Medical Center United States Mayo Clinic MN United States Center for Global Health Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University Munich Germany TranslaTUM - Central Institute for Translational Cancer Research Technical University of Munich Germany Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Biomedical Engineering Rutgers University New BrunswickNJ United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Yale University New HavenCT United States PrecisionFDA U.S. Food and Drug Administration Silver SpringMD United States Cincinnati Children’s Hospital Medical Center United States Helmholtz AI Helmholtz Munich Germany Department of Radiation Oncology Duke University Medical Center United States Department of Radiology Children’s Health Orange County CA United States Department of Applied Mathematics and Computer Science Technical University of Denmark Denmark Department of Radiol

Pediatric tumors of the central nervous system are the most common cause of cancer-related death in children. The five-year survival rate for high-grade gliomas in children is less than 20%. Due to their rarity, the diagnosis of these entities is often delayed, their treatment is mainly based on historic treatment concepts, and clinical trials require multi-institutional collaborations. The MICCAI Brain Tumor Segmentation (BraTS) Challenge is a landmark community benchmark event with a successful history of 12 years of resource creation for the segmentation and analysis of adult glioma. Here we present the CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge, which represents the first BraTS challenge focused on pediatric brain tumors with data acquired across multiple international consortia dedicated to pediatric neuro-oncology and clinical trials. The BraTS-PEDs 2023 challenge focuses on benchmarking the development of volumentric segmentation algorithms for pediatric brain glioma through standardized quantitative performance evaluation metrics utilized across the BraTS 2023 cluster of challenges. Models gaining knowledge from the BraTS-PEDs multi-parametric structural MRI (mpMRI) training data will be evaluated on separate validation and unseen test mpMRI dataof high-grade pediatric glioma. The CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge brings together clinicians and AI/imaging scientists to lead to faster development of automated segmentation techniques that could benefit clinical trials, and ultimately the care of children with brain tumors. © 2023, CC BY.

关键词： Tumors

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Diabetic foot ulcers segmentation challenge report: Benchmark and analysis

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Medical image analysis 2024年 94卷 103153页

作者： Moi Hoon Yap Bill Cassidy Michal Byra Ting-Yu Liao Huahui Yi Adrian Galdran Yung-Han Chen Raphael Brüngel Sven Koitka Christoph M Friedrich Yu-Wen Lo Ching-Hui Yang Kang Li Qicheng Lao Miguel A González Ballester Gustavo Carneiro Yi-Jen Ju Juinn-Dar Huang Joseph M Pappachan Neil D Reeves Vishnu Chandrabalan Darren Dancey Connah Kendrick Department of Computing and Mathematics Manchester Metropolitan University John Dalton Building Chester Street Manchester M1 5GD United Kingdom Lancashire Teaching Hospitals NHS Trust Preston PR2 9HT United Kingdom. Electronic address: m.yap@mmu.ac.uk. Department of Computing and Mathematics Manchester Metropolitan University John Dalton Building Chester Street Manchester M1 5GD United Kingdom. Institute of Fundamental Technological Research Polish Academy of Sciences Warsaw Poland RIKEN Center for Brain Science Wako Japan. Department of Computer Science National Tsing Hua University No. 101 Section 2 Kuang-Fu Road Hsinchu Taiwan. West China Biomedical Big Data Center West China Hospital Sichuan University Chengdu China. BCN Medtech Universitat Pompeu Fabra Barcelona Spain AIML University of Adelaide Australia. Institute of Electronics National Yang Ming Chiao Tung University No. 1001 University Road Hsinchu 300 Taiwan. Department of Computer Science University of Applied Sciences and Arts Dortmund (FH Dortmund) Emil-Figge-Str. 42 44227 Dortmund Germany Institute for Medical Informatics Biometry and Epidemiology (IMIBE) University Hospital Essen Zweigertstr. 37 45130 Essen Germany Institute for Artificial Intelligence in Medicine (IKIM) University Hospital Essen Girardetstr. 2 45131 Essen Germany. Institute for Artificial Intelligence in Medicine (IKIM) University Hospital Essen Girardetstr. 2 45131 Essen Germany Institute of Diagnostic and Interventional Radiology and Neuroradiology University Hospital Essen Hufelandstr. 55 45147 Essen Germany. Institute for Medical Informatics Biometry and Epidemiology (IMIBE) University Hospital Essen Zweigertstr. 37 45130 Essen Germany. West China Biomedical Big Data Center West China Hospital Sichuan University Chengdu China Shanghai Artificial Intelligence Laboratory Shanghai China. School of Artificial Intelligence Beijing University of Posts and Telecommunications Beijing China BCN Medtech Universit

Monitoring the healing progress of diabetic foot ulcers is a challenging process. Accurate segmentation of foot ulcers can help podiatrists to quantitatively measure the size of wound regions to assist prediction of healing status. The main challenge in this field is the lack of publicly available manual delineation, which can be time consuming and laborious. Recently, methods based on deep learning have shown excellent results in automatic segmentation of medical images, however, they require large-scale datasets for training, and there is limited consensus on which methods perform the best. The 2022 Diabetic Foot Ulcers segmentation challenge was held in conjunction with the 2022 International Conference on Medical Image Computing and Computer Assisted Intervention, which sought to address these issues and stimulate progress in this research domain. A training set of 2000 images exhibiting diabetic foot ulcers was released with corresponding segmentation ground truth masks. Of the 72 (approved) requests from 47 countries, 26 teams used this data to develop fully automated systems to predict the true segmentation masks on a test set of 2000 images, with the corresponding ground truth segmentation masks kept private. Predictions from participating teams were scored and ranked according to their average Dice similarity coefficient of the ground truth masks and prediction masks. The winning team achieved a Dice of 0.7287 for diabetic foot ulcer segmentation. This challenge has now entered a live leaderboard stage where it serves as a challenging benchmark for diabetic foot ulcer segmentation.

关键词： Convolutional neural networks Deep learning Diabetic foot ulcers Metrics Segmentation

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Brain Tumor Segmentation (BraTS) Challenge 2024: Meningioma Radiotherapy Planning Automated Segmentation

arXiv

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arXiv 2024年

作者： LaBella, Dominic Schumacher, Katherine Mix, Michael Leu, Kevin McBurney-Lin, Shan Nedelec, Pierre Villanueva-Meyer, Javier Shapey, Jonathan Vercauteren, Tom Chia, Kazumi Ivory, Marina Barfoot, Theodore Al-Salihi, Omar Leu, Justin Halasz, Lia Velichko, Yury Wang, Chunhao Kirkpatrick, John Floyd, Scott Reitman, Zachary J. Mullikin, Trey Bagci, Ulas Sachdev, Sean Hattangadi-Gluth, Jona A. Seibert, Tyler M. Farid, Nikdokht Puett, Connor Pease, Matthew W. Shiue, Kevin Anwar, Syed Muhammad Faghani, Shahriar Taylor, Peter Haider, Muhammad Ammar Warman, Pranav Albrecht, Jake Jakab, András Moassefi, Mana Chung, Verena Aristizabal, Alejandro Karargyris, Alexandros Kassem, Hasan Pati, Sarthak Sheller, Micah Coley, Aaron Huang, Christina Ghanta, Siddharth Schneider, Alex Sharp, Conrad Saluja, Rachit Kofler, Florian Lohmann, Philipp Vollmuth, Phillipp Gagnon, Louis Adewole, Maruf Li, Hongwei Bran Kazerooni, Anahita Fathi Tahon, Nourel Hoda Anazodo, Udunna Moawad, Ahmed W. Menze, Bjoern Linguraru, Marius George Aboian, Mariam Wiestler, Benedikt Baid, Ujjwal Conte, Gian-Marco Rauschecker, Andreas M. Nada, Ayman Abayazeed, Aly H. Huang, Raymond de Verdier, Maria Correia Rudie, Jeffrey D. Bakas, Spyridon Calabrese, Evan Department of Radiation Oncology Duke University Medical Center DurhamNC United States Department of Radiation Oncology SUNY Upstate Medical University SyracuseNY United States San FranciscoCA United States Department of Neurosurgery King’s College Hospital London United Kingdom School of Biomedical Engineering and Imaging Sciences King’s College London London United Kingdom Guy’s and St Thomas’ NHS Foundation Trust United Kingdom Department of Radiation Oncology University of Washington SeattleWA United States Department of Radiology Northwestern University EvanstonIL United States Department of Radiation Oncology Northwestern University EvanstonIL United States Department of Radiation Medicine and Applied Sciences University of California San Diego La Jolla CA United States Department of Radiology University of California San Diego La Jolla CA United States Department of Bioengineering University of California San Diego La Jolla CA United States Department of Neurological Surgery Indiana University School of Medicine IndianapolisIN United States Department of Radiation Oncology Indiana University IndianapolisIN United States Children’s National Hospital WashingtonDC United States George Washington University WashingtonDC United States Mayo Clinic RochesterMN United States CMH Lahore Medical College Lahore Pakistan Duke University Medical Center School of Medicine DurhamNC United States Sage Bionetworks United States University of Zürich Zürich Switzerland Artificial Intelligence Lab Department of Radiology Mayo Clinic RochesterMN United States MLCommons United States Factored AI United States Center For Federated Learning in Medicine Indiana University IndianapolisIN United States Division of Computational Pathology Department of Pathology and Laboratory Medicine Indiana University School of Medicine IndianapolisIN United States Medical Working Group MLCommons San FranciscoCA United States Intel United States Duke Universi

The 2024 Brain Tumor Segmentation Meningioma Radiotherapy (BraTS-MEN-RT) challenge aims to advance automated segmentation algorithms using the largest known multi-institutional dataset of 750 radiotherapy planning brain MRIs with expert-annotated target labels for patients with intact or postoperative meningioma that underwent either conventional external beam radiotherapy or stereotactic radiosurgery. Each case includes a defaced 3D post-contrast T1-weighted radiotherapy planning MRI in its native acquisition space, accompanied by a single-label "target volume" representing the gross tumor volume (GTV) and any at-risk postoperative site. Target volume annotations adhere to established radiotherapy planning protocols, ensuring consistency across cases and institutions. For preoperative meningiomas, the target volume encompasses the entire GTV and associated nodular dural tail, while for postoperative cases, it includes at-risk resection cavity margins as determined by the treating institution. Case annotations were reviewed and approved by expert neuroradiologists and radiation oncologists. Participating teams will develop, containerize, and evaluate automated segmentation models using this comprehensive dataset. Model performance will be assessed using an adapted lesion-wise Dice Similarity Coefficient and the 95% Hausdorff distance. The top-performing teams will be recognized at the Medical Image Computing and Computer Assisted Intervention Conference in October 2024. BraTS-MEN-RT is expected to significantly advance automated radiotherapy planning by enabling precise tumor segmentation and facilitating tailored treatment, ultimately improving patient outcomes. © 2024, CC BY.

关键词： Radiotherapy

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Authorship Correction: International Changes in COVID-19 Clinical Trajectories Across 315 Hospitals and 6 Countries: Retrospective Cohort Study

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Journal of medical Internet research 2021年第11期23卷 e34625页

作者： Griffin M Weber Harrison G Zhang Sehi L'Yi Clara-Lea Bonzel Chuan Hong Paul Avillach Alba Gutiérrez-Sacristán Nathan P Palmer Amelia Li Min Tan Xuan Wang William Yuan Nils Gehlenborg Anna Alloni Danilo F Amendola Antonio Bellasi Riccardo Bellazzi Michele Beraghi Mauro Bucalo Luca Chiovato Kelly Cho Arianna Dagliati Hossein Estiri Robert W Follett Noelia García Barrio David A Hanauer Darren W Henderson Yuk-Lam Ho John H Holmes Meghan R Hutch Ramakanth Kavuluru Katie Kirchoff Jeffrey G Klann Ashok K Krishnamurthy Trang T Le Molei Liu Ne Hooi Will Loh Sara Lozano-Zahonero Yuan Luo Sarah Maidlow Adeline Makoudjou Alberto Malovini Marcelo Roberto Martins Bertrand Moal Michele Morris Danielle L Mowery Shawn N Murphy Antoine Neuraz Kee Yuan Ngiam Marina P Okoshi Gilbert S Omenn Lav P Patel Miguel Pedrera Jiménez Robson A Prudente Malarkodi Jebathilagam Samayamuthu Fernando J Sanz Vidorreta Emily R Schriver Petra Schubert Pablo Serrano Balazote Byorn Wl Tan Suzana E Tanni Valentina Tibollo Shyam Visweswaran Kavishwar B Wagholikar Zongqi Xia Daniela Zöller Isaac S Kohane Tianxi Cai Andrew M South Gabriel A Brat Department of Biomedical Informatics Harvard Medical School Boston MA United States. BIOMERIS (BIOMedical Research Informatics Solutions) Pavia Italy. Clinical Research Unit Botucatu Medical School São Paulo State University Botucatu Brazil. Division of Nephrology Department of Medicine Ente Ospedaliero Cantonale Lugano Switzerland. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Information Technology Department Azienda Socio-Sanitaria Territoriale di Pavia Pavia Italy. Unit of Internal Medicine and Endocrinology Istituti Clinici Scientifici Maugeri SpA SB IRCCS Pavia Italy. Massachusetts Veterans Epidemiology Research and Information Center Veterans Affairs Boston Healthcare System Boston MA United States. Department of Electrical Computer and Biomedical Engineering University of Pavia Pavia Italy. Department of Medicine Massachusetts General Hospital Boston MA United States. Department of Medicine David Geffen School of Medicine University of California Los Angeles Los Angeles CA United States. Health Informatics Hospital Universitario 12 de Octubre Madrid Spain. Department of Learning Health Sciences University of Michigan Medical School Ann Arbor MI United States. Department of Biomedical Informatics University of Kentucky Lexington KY United States. Department of Biostatistics Epidemiology and Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Institute for Biomedical Informatics University of Pennsylvania Perelman School of Medicine Philadelphia PA United States. Department of Preventive Medicine Northwestern University Chicago IL United States. Institute for Biomedical Informatics University of Kentucky Lexington KY United States. Medical University of South Carolina Charleston SC United States. Department of Computer Science Renaissance Computing Institute University of North Carolina at Chapel Hill Chapel Hill NC United States. Departm

[This corrects the article DOI: 10.2196/31400.].

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The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI

arXiv

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arXiv 2023年

作者： Moawad, Ahmed W. Janas, Anastasia Baid, Ujjwal Ramakrishnan, Divya Saluja, Rachit Ashraf, Nader Jekel, Leon Amiruddin, Raisa Adewole, Maruf Albrecht, Jake Anazodo, Udunna Aneja, Sanjay Anwar, Syed Muhammad Bergquist, Timothy Calabrese, Evan Chiang, Veronica Chung, Verena Conte, Gian Marco Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Iglesias, Juan Eugenio Jiang, Zhifan Johanson, Elaine Kazerooni, Anahita Fathi Kofler, Florian Krantchev, Kiril LaBella, Dominic Van Leemput, Koen Li, Hongwei Bran Linguraru, Marius George Link, Katherine E. Liu, Xinyang Maleki, Nazanin Meier, Zeke Menze, Bjoern H. Moy, Harrison Osenberg, Klara Piraud, Marie Reitman, Zachary Shinohara, Russel Takeshi Tahon, Nourel hoda Nada, Ayman Velichko, Yuri S. Wang, Chunhao Wiestler, Benedikt Wiggins, Walter Shafique, Umber Willms, Klara Avesta, Arman Bousabarah, Khaled Chakrabarty, Satrajit Gennaro, Nicolo Holler, Wolfgang Kaur, Manpreet LaMontagne, Pamela Lin, MingDe Lost, Jan Marcus, Daniel S. Maresca, Ryan Merkaj, Sarah Nada, Ayaman Pedersen, Gabriel Cassinelli von Reppert, Marc Sotiras, Aristeidis Teytelboym, Oleg Tillmans, Niklas Westerhoff, Malte Youssef, Ayda Godfrey, Devon Floyd, Scott Rauschecker, Andreas Villanueva-Meyer, Javier Pflüger, Irada Cho, Jaeyoung Bendszus, Martin Brugnara, Gianluca Cramer, Justin Perez-Carillo, Gloria Guzman J. Johnson, Derek R. Kam, Anthony Kwan, Benjamin Yin Ming Lai, Lillian Lall, Neil U. Memon, Fatima Patro, Satya Narayana Petrovic, Bojan So, Tiffany Y. Thompson, Gerard Wu, Lei Schrickel, E. Brooke Bansal, Anu Barkhof, Frederik Besada, Cristina Chu, Sammy Druzgal, Jason Dusoi, Alexandru Farage, Luciano Feltrin, Fabricio Fong, Amy Fung, Steve H. Gray, R. Ian Ikuta, Ichiro Iv, Michael Postma, Alida A. Mahajan, Amit Joyner, David Krumpelman, Chase Letourneau-Guillon, Laurent Lincoln, Christie M. Maros, Mate E. Miller, Elka Morón, Fanny Nimchinsky, Esther A. Ozsarlak, Ozkan Patel, Uresh Rohatgi, Saurabh Saha, Atin Sayah, Anousheh Schwartz, Eric D. Shih, Robert Shiroishi, Mark Trinity health Mid Atlantic Hosiptals DarbyPA United States Department of Radiology and Biomedical Imaging Yale School of Medicine New HavenCT United States Division of Computational Pathology Department of Pathology and Laboratory Medicine School of Medicine Indiana University IndianapolisIN United States Department of Electical and Computer Engineering Cornell University Cornell Tech New YorkNY United States Department of Radiology Weill Cornell Medicine New YorkNY United States ImagineQuant Children’s Hospital of Philadelphia PhiladelphiaPA United States College of Medicine Alfaisal University Riyadh Saudi Arabia DKFZ Division of Translational Neurooncology The WTZ German Cancer Consortium DKTK Partner Site University Hospital Essen Essen Germany Medical Artificial Intelligence Lab Crestview Radiology Lagos Nigeria Sage Bionetworks SeattleWA United States Montreal Neurological Institute McGill University Montreal Canada lab Crestview Radiology Lagos Nigeria Department of Therapeutic Radiology Yale School of Medicine New HavenCT United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Radiology Mayo Clinic RochesterMN United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Neurosurgery Yale School of Medicine New HavenCT United States Center for Global Health Perelman School of Medicine University of Pennsylvania PA United States Department of Informatics Technical University Munich Germany Children’s Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Children’s National Hospital WashingtonDC United States PrecisionFDA U.S. Food and Drug Administration S

The translation of AI-generated brain metastases (BM) segmentation into clinical practice relies heavily on diverse, high-quality annotated medical imaging datasets. The BraTS-METS 2023 challenge has gained momentum for testing and benchmarking algorithms using rigorously annotated internationally compiled real-world datasets. This study presents the results of the segmentation challenge and characterizes the challenging cases that impacted the performance of the winning algorithms. Untreated brain metastases on standard anatomic MRI sequences (T1, T2, FLAIR, T1PG) from eight contributed international datasets were annotated in stepwise method: published UNET algorithms, student, neuroradiologist, final approver neuroradiologist. Segmentations were ranked based on lesion-wise Dice and Hausdorff distance (HD95) scores. False positives (FP) and false negatives (FN) were rigorously penalized, receiving a score of 0 for Dice and a fixed penalty of 374 for HD95. The mean scores for the teams were calculated. Eight datasets comprising 1303 studies were annotated, with 402 studies (3076 lesions) released on Synapse as publicly available datasets to challenge competitors. Additionally, 31 studies (139 lesions) were held out for validation, and 59 studies (218 lesions) were used for testing. Segmentation accuracy was measured as rank across subjects, with the winning team achieving a LesionWise mean score of 7.9. The Dice score for the winning team was 0.65 ± 0.25. Common errors among the leading teams included false negatives for small lesions and misregistration of masks in space. The Dice scores and lesion detection rates of all algorithms diminished with decreasing tumor size, particularly for tumors smaller than 100 mm3. In conclusion, algorithms for BM segmentation require further refinement to balance high sensitivity in lesion detection with the minimization of false positives and negatives. The BraTS-METS 2023 challenge successfully curated well-annotated, diverse d

关键词： Image segmentation

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A genome-wide association study with 1,126,563 individuals identifies new risk loci for Alzheimer's disease (Sep, 10.1038/s41588-021-00921-z, 2021)

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NATURE GENETICS 2022年第7期54卷 1062-1062页

作者： Wightman, Douglas P. Jansen, Iris E. Savage, Jeanne E. Shadrin, Alexey A. Bahrami, Shahram Holland, Dominic Rongve, Arvid Borte, Sigrid Winsvold, Bendik S. Drange, Ole Kristian Martinsen, Amy E. Skogholt, Anne Heidi Willer, Cristen Brathen, Geir Bosnes, Ingunn Nielsen, Jonas Bille Fritsche, Lars G. Thomas, Laurent F. Pedersen, Linda M. Gabrielsen, Maiken E. Johnsen, Marianne Bakke Meisingset, Tore Wergeland Zhou, Wei Proitsi, Petroula Hodges, Angela Dobson, Richard Velayudhan, Latha Heilbron, Karl Auton, Adam Sealock, Julia M. Davis, Lea K. Pedersen, Nancy L. Reynolds, Chandra A. Karlsson, Ida K. Magnusson, Sigurdur Stefansson, Hreinn Thordardottir, Steinunn Jonsson, Palmi V. Snaedal, Jon Zettergren, Anna Skoog, Ingmar Kern, Silke Waern, Margda Zetterberg, Henrik Blennow, Kaj Stordal, Eystein Hveem, Kristian Zwart, John-Anker Athanasiu, Lavinia Selnes, Per Saltvedt, Ingvild Sando, Sigrid B. Ulstein, Ingun Djurovic, Srdjan Fladby, Tormod Aarsland, Dag Selbaek, Geir Ripke, Stephan Stefansson, Kari Andreassen, Ole A. Posthuma, Danielle Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU Amsterdam Amsterdam the Netherlands Department of Child and Adolescent Psychiatry and Pediatric Psychology Section Complex Trait Genetics Amsterdam Neuroscience Vrije Universiteit Medical Center Amsterdam University Medical Center Amsterdam the Netherlands NORMENT Centre University of Oslo Oslo Norway Institute of Clinical Medicine University of Oslo Oslo Norway Division of Mental Health and Addiction Oslo University Hospital Oslo Norway Research and Communication Unit for Musculoskeletal Health (FORMI) Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway K. G. Jebsen Center for Genetic Epidemiology Department of Public Health and Nursing Faculty of Medicine and Health Sciences Norwegian University of Science and Technology Trondheim Norway Department of Research Innovation and Education Division of Clinical Neuroscience Oslo University Hospital Oslo Norway Department of Neurology Akershus University Hospital Lørenskog Norway Department of Geriatric Medicine Oslo University Hospital Oslo Norway Norwegian National Advisory Unit on Ageing and Health Vestfold Hospital Trust Tønsberg Norway Department of Neurosciences University of California San Diego La Jolla CA USA Department of Research and Innovation Helse Fonna Haugesund Hospital Haugesund Norway The University of Bergen Institute of Clinical Medicine (K1) Bergen Norway Department of Neurology Oslo University Hospital Oslo Norway Department of Clinical and Molecular Medicine Norwegian University of Science and Technology Trondheim Norway Department of Internal Medicine Division of Cardiovascular Medicine University of Michigan Ann Arbor MI USA Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark HUNT Research Center Department of Public Health and Nursing Faculty of Medicine and Health Scien

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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The repertoire of mutational signatures in human cancer (vol 578, pg 94, 2020)

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NATURE 2023年第7948期614卷 E41-E41页

作者： Alexandrov, Ludmil B. Kim, Jaegil Haradhvala, Nicholas J. Huang, Mi Ni Ng, Alvin Wei Tian Wu, Yang Boot, Arnoud Covington, Kyle R. Gordenin, Dmitry A. Bergstrom, Erik N. Islam, S. M. Ashiqul Lopez-Bigas, Nuria Klimczak, Leszek J. McPherson, John R. Morganella, Sandro Sabarinathan, Radhakrishnan Wheeler, David A. Mustonen, Ville Getz, Gad Rozen, Steven G. Stratton, Michael R. Department of Cellular and Molecular Medicine Department of Bioengineering Moores Cancer Center University of California San Diego CA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Cellular and Molecular Medicine and Department of Bioengineering University of California San Diego La Jolla CA USA UC San Diego Moores Cancer Center San Diego CA USA University of California San Diego San Diego CA USA Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Massachusetts General Hospital Boston MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Laboratory for Medical Science Mathematics RIKEN Center for Integrative Medical Sciences Yokohama Japan Computational Biology Program Ontario Institute for Cancer Research Toronto ON Canada Programme in Cancer & Stem Cell Biology Duke-NUS Medical School Singapore Singapore Centre for Computational Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Centre for Computational Biology Duke-NUS Medical School Singapore Singapore SingHealth Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore Singapore Cancer Science Institute of Singapore National University of Singapore Singapore Singapore Institute of Molecular and Cell Biology Singapore Singapore Laboratory of Cancer Epigenome Division of Medical Science National Cancer Centre Singapore Singapore Singapore Duke-NUS Medical School Singapore Singapore Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Dan L. Duncan Cancer Center Baylor College of Medicine Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Genome Integrity and Structural Biology Laboratory National Ins

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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

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NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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