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Author Correction: Systematic dissection of tumor-normal single-cell ecosystems across a thousand tumors of 30 cancer types

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Nature communications 2025年第1期16卷 2806页

作者： Junho Kang Jun Hyeong Lee Hongui Cha Jinhyeon An Joonha Kwon Seongwoo Lee Seongryong Kim Mert Yakup Baykan So Yeon Kim Dohyeon An Ah-Young Kwon Hee Jung An Se-Hoon Lee Jung Kyoon Choi Jong-Eun Park Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon Republic of Korea. Department of Bio and Brain Engineering Korea Advanced Institute of Science and Technology Daejeon Republic of Korea. Division of Hematology-Oncology Department of Medicine Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea. Division of Cancer Data Science National Cancer Center Bioinformatics Branch Goyang Republic of Korea. Department of Pathology CHA Bundang Medical Center CHA University Seongnam-si Republic of Korea. Division of Hematology-Oncology Department of Medicine Samsung Medical Center Sungkyunkwan University School of Medicine Seoul Republic of Korea. shlee119@skku.edu. Department of Health Sciences and Technology Samsung Advanced Institute of Health Science and Technology Sungkyunkwan University School of Medicine Seoul Republic of Korea. shlee119@skku.edu. Department of Bio and Brain Engineering Korea Advanced Institute of Science and Technology Daejeon Republic of Korea. jungkyoon@kaist.ac.kr. Penta Medix Co. Ltd. Seongnam-si Gyeonggi-do Republic of Korea. jungkyoon@kaist.ac.kr. Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon Republic of Korea. jp24@kaist.ac.kr. Biomedical Research Center Korea Advanced Institute of Science and Technology Daejeon Republic of Korea. jp24@kaist.ac.kr.

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From mechanism to medicine: The progress and potential of epigenetics in osteoarthritis

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Osteoarthritis and Cartilage Open 2025年第3期7卷 100621-100621页

作者： Roberts, Jack B. Rockel, Jason S. Mulders, Rick Capellini, Terence D. Appleton, C. Thomas Phanstiel, Douglas H. Lories, Rik Geurts, Jeroen Ali, Shabana Amanda Bhutani, Nidhi Stone, Laura Cruz-Almeida, Yenisel Jurisica, Igor Boer, Cindy G. Ramos, Yolande F.M. Rice, Sarah J. Kapoor, Mohit Biosciences Institute Newcastle University Newcastle upon Tyne United Kingdom Division of Orthopedics Osteoarthritis Research Program Schroeder Arthritis Institute University Health Network and Krembil Research Institute University Health Network Toronto ON Canada Department of Medical Biophysics and Computer Science University of Toronto Toronto ON Canada Department of Biomedical Data Sciences Section Molecular Epidemiology Leiden University Medical Center Leiden Netherlands Department of Human Evolutionary Biology Harvard University Cambridge MA United States Bone and Joint Institute and Department of Medicine Schulich School of Medicine and Dentistry Western University London Canada Curriculum in Bioinformatics and Computational Biology University of North Carolina Chapel Hill NC United States Laboratory of Tissue Homeostasis and Disease Skeletal Biology and Engineering Research Centre Department of Development and Regeneration KU Leuven Leuven Belgium Division of Rheumatology University Hospitals Leuven Leuven Belgium Rheumatology Department of Musculoskeletal Medicine Lausanne University Hospital and University of Lausanne (CHUV-UNIL) Lausanne Switzerland Bone and Joint Center Henry Ford Health + Michigan State University Health Sciences Detroit MI United States Department of Orthopaedic Surgery Stanford School of Medicine Stanford CA United States Department of Anesthesiology School of Medicine University of Minnesota Minneapolis MN United States Pain Research and Intervention Center of Excellence (PRICE) at the University of Florida Gainesville FL United States Department of Internal Medicine Genomics Medicine Center Erasmus MC University Medical Center Rotterdam Netherlands Department of Laboratory Medicine and Pathobiology University of Toronto Toronto ON Canada Department of Surgery University of Toronto Toronto ON Canada

Objective: Osteoarthritis (OA) is a chronic, degenerative disease of the articular joints. The disease presents an enormous clinical and economic burden globally, due in part to the lack of disease modifying therapies. For over a decade, OA researchers have been working to determine epigenetic mechanisms underlying the disease to better understand pathology, identify biomarkers of progression, and pinpoint novel targets for therapeutic intervention. Design: This article presents a summary of the 3rd International Workshop on the Epigenetics of Osteoarthritis held in Toronto, Ontario, Canada, in September 2024. The purpose of this meeting was to gather the international community to discuss the status of OA epigenetic research and share expertise on innovative techniques for future. Results: Since the two previous meetings, there has been increasing adoption of advanced single-cell and spatial sequencing technologies and bioinfomatic analyses. Furthermore, investigations of multiple joint tissues has highlighted the shifting paradigm from OA as a cartilage centric disease to the consideration of all joint tissues. Conclusions: The workshop provided a unique opportunity for early-career researchers to expand their network, and for all participants to discuss new or improved approaches to advance the field, including international consortia and data sharing. The highlights and outcomes from this OA epigenetics workshop are described in this report. © 2025 The Authors

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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

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NATURE GENETICS 2023年第3期55卷 519-520页

作者： Fernandez-Rozadilla, Ceres Timofeeva, Maria Chen, Zhishan Law, Philip Thomas, Minta Schmit, Stephanie Diez-Obrero, Virginia Hsu, Li Fernandez-Tajes, Juan Palles, Claire Sherwood, Kitty Briggs, Sarah Svinti, Victoria Donnelly, Kevin Farrington, Susan Blackmur, James Vaughan-Shaw, Peter Shu, Xiao-ou Long, Jirong Cai, Qiuyin Guo, Xingyi Lu, Yingchang Broderick, Peter Studd, James Huyghe, Jeroen Harrison, Tabitha Conti, David Dampier, Christopher Devall, Mathew Schumacher, Fredrick Melas, Marilena Rennert, Gad Obon-Santacana, Mireia Martin-Sanchez, Vicente Moratalla-Navarro, Ferran Oh, Jae Hwan Kim, Jeongseon Jee, Sun Ha Jung, Keum Ji Kweon, Sun-Seog Shin, Min-Ho Shin, Aesun Ahn, Yoon-Ok Kim, Dong-Hyun Oze, Isao Wen, Wanqing Matsuo, Keitaro Matsuda, Koichi Tanikawa, Chizu Ren, Zefang Gao, Yu-Tang Jia, Wei-Hua Hopper, John Jenkins, Mark Win, Aung Ko Pai, Rish Figueiredo, Jane Haile, Robert Gallinger, Steven Woods, Michael Newcomb, Polly Duggan, David Cheadle, Jeremy Kaplan, Richard Maughan, Timothy Kerr, Rachel Kerr, David Kirac, Iva Bohm, Jan Mecklin, Lukka-Pekka Jousilahti, Pekka Knekt, Paul Aaltonen, Lauri Rissanen, Harri Pukkala, Eero Eriksson, Johan Cajuso, Tatiana Hanninen, Ulrika Kondelin, Johanna Palin, Kimmo Tanskanen, Tomas Renkonen-Sinisalo, Laura Zanke, Brent Mannisto, Satu Albanes, Demetrius Weinstein, Stephanie Ruiz-Narvaez, Edward Palmer, Julie Buchanan, Daniel Platz, Elizabeth Visvanathan, Kala Ulrich, Cornelia Siegel, Erin Brezina, Stefanie Gsur, Andrea Campbell, Peter Chang-Claude, Jenny Hoffmeister, Michael Brenner, Hermann Slattery, Martha Potter, John Tsilidis, Konstantinos Schulze, Matthias Gunter, Marc Murphy, Neil Castells, Antoni Castellvi-Bel, Sergi Moreira, Leticia Arndt, Volker Shcherbina, Anna Stern, Mariana Pardamean, Bens Bishop, Timothy Giles, Graham Southey, Melissa Idos, Gregory McDonnell, Kevin Abu-Ful, Zomoroda Greenson, Joel Shulman, Katerina Lejbkowicz, Flavio Offit, Kenneth Su, Yu-Ru Steinfelder, Robert Keku, Temitope van Guelpen, Bethany Hudson, Thomas Hampel, Heather Pearlman, Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Division of Genetics and Epidemiology Institute of Cancer Research London UK Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA Genomic Medicine Institute Cleveland Clinic Cleveland OH USA Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain Department of Biostatistics School of Public Health University of Washington Seattle WA USA Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK Department of Public Health Richard Doll Building University of Oxford Oxford UK Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA Department of Populat

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

关键词： Colorectal cancer Epigenomics Genome-wide association studies Transcriptomics

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Correction: Real-world effectiveness and safety of trastuzumab-deruxtecan in Japanese patients with HER2-positive advanced gastric cancer (EN-DEAVOR study)

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Gastric cancer : official journal of the International Gastric Cancer Association and the Japanese Gastric Cancer Association 2025年第1期28卷 62页

作者： Hisato Kawakami Koki Nakanishi Akitaka Makiyama Hirotaka Konishi Satoshi Morita Yukiya Narita Naotoshi Sugimoto Keiko Minashi Motohiro Imano Rin Inamoto Yasuhiro Kodera Hiroki Kume Keita Yamaguchi Wataru Hashimoto Kei Muro Department of Medical Oncology Kindai University Faculty of Medicine Osakasayama Japan. kawakami_h@med.kindai.ac.jp. Department of Gastroenterological Surgery Nagoya University Graduate School of Medicine Nagoya Japan. Cancer Center Gifu University Hospital Gifu Japan. Division of Digestive Surgery Kyoto Prefectural University of Medicine Kyoto Japan. Department of Biomedical Statistics and Bioinformatics Kyoto University Graduate School of Medicine Kyoto Japan. Department of Clinical Oncology Aichi Cancer Center Hospital Nagoya Japan. Department of Genetic Oncology Osaka International Cancer Institute Osaka Japan. Division of Gastroenterology Chiba Cancer Center Chiba Japan. Department of Surgery Kindai University Faculty of Medicine Osakasayama Japan. Department of Gastroenterology Saitama Cancer Center Saitama Japan. Oncology Medical Science Department I Daiichi Sankyo Co. Ltd. Tokyo Japan. Data Intelligence Department Daiichi Sankyo Co. Ltd. Tokyo Japan.

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Author Correction: The landscape of viral associations in human cancers

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Nature genetics 2023年第6期55卷 1077页

作者： Marc Zapatka Ivan Borozan Daniel S Brewer Murat Iskar Adam Grundhoff Malik Alawi Nikita Desai Holger Sültmann Holger Moch Colin S Cooper Roland Eils Vincent Ferretti Peter Lichter Division of Molecular Genetics German Cancer Research Center (DKFZ) Heidelberg Germany. Informatics and Bio-computing Program Ontario Institute for Cancer Research Toronto Ontario Canada. Norwich Medical School University of East Anglia Norwich UK. Earlham Institute Norwich UK. Heinrich-Pette-Institute Leibniz Institute for Experimental Virology Hamburg Germany. German Center for Infection Research (DZIF) Partner Site Hamburg-Borstel-Lübeck-Riems Hamburg Germany. Bioinformatics Core University Medical Center Hamburg-Eppendorf Hamburg Germany. Bioinformatics Group Department of Computer Science University College London London UK. Biomedical Data Science Laboratory Francis Crick Institute London UK. National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany. Division of Cancer Genome Research German Cancer Research Center (DKFZ) Heidelberg Germany. German Cancer Consortium (DKTK) Heidelberg Germany. Department of Pathology and Molecular Pathology University and University Hospital Zürich Zurich Switzerland. Institute of Cancer Research London UK. University of East Anglia Norwich UK. Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Bioinformatics and Functional Genomics Institute of Pharmacy and Molecular Biotechnology Heidelberg University and BioQuant Center Heidelberg Germany. Center for Digital Health Berlin Institute of Health and Charité Universitätsmedizin Berlin Berlin Germany. Ontario Institute for Cancer Research MaRS Centre Toronto Ontario Canada. Department of Biochemistry and Molecular Medicine University of Montreal Montreal Québec Canada. Division of Molecular Genetics German Cancer Research Center (DKFZ) Heidelberg Germany. peter.lichter@dkfz-heidelberg.de. German Cancer Consortium (DKTK) Heidelberg Germany. peter.lichter@dkfz-heidelberg.de.

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A deep learning-based method for automatic segmentation of proximal femur from quantitative computed tomography images

arXiv

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arXiv 2020年

作者： Zhao, Chen Keyak, Joyce H. Tang, Jinshan Kaneko, Tadashi S. Khosla, Sundeep Amin, Shreyasee Atkinson, Elizabeth J. Zhao, Lan-Juan Serou, Michael J. Zhang, Chaoyang Shen, Hui Deng, Hong-Wen Zhou, Weihua College of Computing Michigan Technological University HoughtonMI49931 United States Department of Radiological Sciences Department of Mechanical and Aerospace Engineering Department of Biomedical Engineering Chao Family Comprehensive Cancer Center University of California Irvine IrvineCA92868 United States Department of Radiological Sciences University of California Irvine IrvineCA92868 United States Division of Endocrinology Department of Medicine Mayo Clinic RochesterMN United States Division of Epidemiology Department of Health Sciences Research Division of Rheumatology Department of Medicine Mayo Clinic RochesterMN United States Division of Biomedical Statistics and Informatics Department of Health Sciences Research Mayo Clinic RochesterMN United States Tulane Center of Bioinformatics and Genomics Tulane University School of Public Health and Tropical Medicine New OrleansLA70112 United States Department of Radiology Tulane University School of Medicine New OrleansLA70112 United States School of Computing Sciences and Computer Engineering University of Southern Mississippi HattiesburgMS39406 United States College of Computing Michigan Technological University 1400 Townsend Dr HoughtonMI49931 United States Tulane Center for Bioinformatics and Genomics Department of Biostatistics and Data Science Tulane School of Public Health and Tropical Medicine 1440 Canal Street Suite 1610 New OrleansLA70112 United States

Purpose: Proximal femur image analyses based on quantitative computed tomography (QCT) provide a method to quantify the bone density and evaluate osteoporosis and risk of fracture. We aim to develop a deep-learning-based method for automatic proximal femur segmentation. Methods and Materials: We developed a 3D image segmentation method based on V-Net, an end-to-end fully convolutional neural network (CNN), to extract the proximal femur QCT images automatically. The proposed V-net methodology adopts a compound loss function, which includes a Dice loss and a L2 regularizer. We performed experiments to evaluate the effectiveness of the proposed segmentation method. In the experiments, a QCT dataset which included 397 QCT subjects was used. For the QCT image of each subject, the ground truth for the proximal femur was delineated by a well-trained scientist. During the experiments for the entire cohort then for male and female subjects separately, 90% of the subjects were used in 10-fold cross-validation for training and internal validation, and to select the optimal parameters of the proposed models;the rest of the subjects were used to evaluate the performance of models. Results: Visual comparison demonstrated high agreement between the model prediction and ground truth contours of the proximal femur portion of the QCT images. In the entire cohort, the proposed model achieved a Dice score of 0.9815, a sensitivity of 0.9852 and a specificity of 0.9992. In addition, an R2 score of 0.9956 (p Copyright © 2020, The Authors. All rights reserved.

关键词： Diseases

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2022年第5期30卷 630-631页

作者： Dareng, Eileen O. Tyrer, Jonathan P. Barnes, Daniel R. Jones, Michelle R. Yang, Xin Aben, Katja K. H. Adank, Muriel A. Agata, Simona Andrulis, Irene L. Anton-Culver, Hoda Antonenkova, Natalia N. Aravantinos, Gerasimos Arun, Banu K. Augustinsson, Annelie Balmana, Judith Bandera, Elisa V. Barkardottir, Rosa B. Barrowdale, Daniel Beckmann, Matthias W. Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina Bernardini, Marcus Q. Bjorge, Line Black, Amanda Bogdanova, Natalia V. Bonanni, Bernardo Borg, Ake Brenton, James D. Budzilowska, Agnieszka Butzow, Ralf Buys, Saundra S. Cai, Hui Caligo, Maria A. Campbell, Ian Cannioto, Rikki Cassingham, Hayley Chang-Claude, Jenny Chanock, Stephen J. Chen, Kexin Chiew, Yoke-Eng Chung, Wendy K. Claes, Kathleen B. M. Colonna, Sarah Cook, Linda S. Couch, Fergus J. Daly, Mary B. Dao, Fanny Davies, Eleanor de la Hoya, Miguel de Putter, Robin Dennis, Joe DePersia, Allison Devilee, Peter Diez, Orland Ding, Yuan Chun Doherty, Jennifer A. Domchek, Susan M. Dork, Thilo du Bois, Andreas Durst, Matthias Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Evans, Gareth D. Fasching, Peter A. Flanagan, James M. Fortner, Renee T. Machackova, Eva Friedman, Eitan Ganz, Patricia A. Garber, Judy Gensini, Francesca Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goodman, Marc T. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute Hansen, Thomas V. O. Harris, Holly R. Hartman, Mikael Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Hopper, John L. Huang, Ruea-Yea Huff, Chad Hulick, Peter J. Huntsman, David G. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jensen, Allan Johannsson, Oskar Th. John, Esther M. Jones, Michael E. Kang, Daehee Karlan, Beth Y. Karnezis, Anthony Kelemen, Linda E. Khusnutdinova, Elza Kiemeney, Lambertus A. Kim, Byoung-Gie Kjaer, Susanne K. Komenaka, Ian Kupryjanczyk, Jolanta Kurian, Allison W. Kwong, Ava Lambrechts, Diether Larson, Melissa C. Lazaro, Conxi L University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands The Netherlands Cancer Institute—Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands Veneto Institute of Oncology IOV—IRCCS Immunology and Molecular Oncology Unit Padua Italy Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada University of Toronto Department of Molecular Genetics Toronto ON Canada University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus ‘Agii Anargiri’ Cancer Hospital Athens Greece University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden Vall d’Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain University Hospital of Vall d’Hebron Department of Medical Oncology Barcelona Spain Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA Landspitali University Hospital Department of Pathology Reykjavik Iceland University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany Vanderbilt University School of Medicine Division of Epidemiology Department

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

关键词： Clinical genetics Genetic markers Risk factors Biomedicine general Human Genetics bioinformatics Gene Expression Cytogenetics

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A phase I/II trial of WT1-specific TCR gene therapy for patients with acute myeloid leukemia and active disease post-allogeneic hematopoietic cell transplantation: skewing towards NK-like phenotype impairs T cell function and persistence

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Nature Communications 2025年第1期16卷 1-20页

作者： Francesco Mazziotta Lauren E. Martin Sinéad Kinsella Miranda C. Lahman Daniel Hunter Thomas M. Schmitt Natalie Duerkopp Tzu-Hao Tang Yuta Asano Elise C. Wilcox Bo Lee Tianzi Zhang Philip D. Greenberg Aude G. Chapuis Daniel N. Egan Merav Bar Kelly G. Paulson Cecilia C. S. Yeung Filippo Milano Valentin Voillet Raphael Gottardo Paolo Lopedote Livius Penter Catherine J. Wu Program in Immunology Fred Hutchinson Cancer Center Seattle WA USA Translational Sciences and Therapeutics Division Fred Hutchinson Cancer Center Seattle WA USA Immunotherapy Integrated Research Center Fred Hutch Cancer Center Seattle WA USA Departments of Immunology and Medicine University of Washington Seattle WA USA Division of Medical Oncology University of Washington Seattle WA USA Providence-Swedish Cancer Institute Seattle WA USA Bristol Myers Squibb Boudry Switzerland University of Washington Dept. of Laboratory Medicine and Pathology Seattle WA USA Vaccine and Infectious Disease Division Fred Hutchinson Cancer Center Seattle WA USA Cape Town HVTN Immunology Laboratory Hutchinson Centre Research Institute of South Africa Cape Town South Africa Biomedical Data Science Center Lausanne University Hospital Lausanne Switzerland University of Lausanne Lausanne Switzerland Agora Translational Research Center Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland Department of Medicine St. Elizabeth’s Medical Center Boston University Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Hematology Oncology and Tumorimmunology Campus Virchow Klinikum Charité - Universitätsmedizin Berlin Corporate Member of Freie Universität Berlin and Humboldt-Universität zu Berlin Berlin Germany Berlin Institute of Health at Charité-Universitätsmedizin Berlin BIH Biomedical Innovation Academy BIH Charité Digital Clinician Scientist Program Berlin Germany

Relapsed and/or refractory acute myeloid leukemia (AML) post-allogeneic hematopoietic cell transplantation (HCT) is usually fatal. We previously reported that post-HCT immunotherapy with Epstein-Barr virus (EBV)-specific donor CD8+T cells engineered to express a Wilms Tumor Antigen 1-specific T-cell receptor (TTCR-C4) appeared to prevent relapse in high-risk patients. In this phase I/II clinical trial (NCT01640301), we evaluated safety (primary endpoint), persistence and efficacy (secondary endpoints) of EBV- or Cytomegalovirus (CMV)-specific TTCR-C4in fifteen patients with active AML post-HCT. Infusions were well tolerated, with no dose-limiting toxicities or serious adverse events related to the product. However, TTCR-C4cells did not clearly improve outcomes despite EBV-specific TTCR-C4cells showing enhanced potential for prolonged persistence compared to CMV-specific TTCR-C4. Investigating the fate of persisting TTCR-C4, we identified a shift towards natural killer-like (NKL) terminal differentiation, distinct from solid tumor-associated canonical exhaustion programs. In one patient, treatment with azacitidine appeared to mitigate this NKL skewing, promoting TTCR-C4persistence. These findings suggest that AML drives a distinct form of T-cell dysfunction, highlight the need for targeted approaches that preserve T-cell fitness, ultimately improving the efficacy of cellular therapies for AML.

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Uncertainty-aware semi-supervised method using large unlabelled and limited labeled COVID-19 data

arXiv

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arXiv 2021年

作者： Alizadehsani, Roohallah Sharifrazi, Danial Izadi, Navid Hoseini Joloudari, Javad Hassannataj Shoeibi, Afshin Gorriz, Juan M. Hussain, Sadiq Arco, Juan E. Sani, Zahra Alizadeh Khozeimeh, Fahime Khosravi, Abbas Nahavandi, Saeid Islam, Sheikh Mohammed Shariful Acharya, U. Rajendra Deakin University Geelong Australia Department of Computer Engineering School of Technical and Engineering Shiraz Branch Islamic Azad University Shiraz Iran Dept. of Electrical and Computer Engineering Isfahan University of Technology Isfahan Iran Department of Computer Engineering Faculty of Engineering University of Birjand Birjand Iran Computer Engineering Department Ferdowsi University of Mashhad Mashhad Iran Faculty of Electrical and Computer Engineering Biomedical Data Acquisition Lab K. N. Toosi University of Technology Tehran Iran Department of Signal Theory Networking and Communications Universidad de Granada Spain System Administrator Dibrugarh University Assam786004 India Rajaie Cardiovascular Medical and Research Center Iran University of Medical Sciences Tehran Iran Omid Hospital Iran University of Medical Sciences Tehran Iran Institute for Physical Activity and Nutrition Deakin University Melbourne Australia Cardiovascular Division The George Institute for Global Health Australia Sydney Medical School University of Sydney Australia Department of Electronics and Computer Engineering Ngee Ann Polytechnic Singapore Singapore Department of Biomedical Engineering School of Science and Technology Singapore University of Social Sciences Singapore Singapore Department of Bioinformatics and Medical Engineering Asia University Taiwan

The new coronavirus has caused more than 1 million deaths and continues to spread rapidly. This virus targets the lungs, causing respiratory distress which can be mild or severe. The X-ray or computed tomography (CT) images of lungs can reveal whether the patient is infected with COVID-19 or not. Many researchers are trying to improve COVID-19 detection using artificial intelligence. In this paper, relying on Generative Adversarial Networks (GAN), we propose a Semi-supervised Classification using Limited Labelled data (SCLLD) for automated COVID-19 detection. Our motivation is to develop learning method which can cope with scenarios that preparing labelled data is time consuming or expensive. We further improved the detection accuracy of the proposed method by applying Sobel edge detection. The GAN discriminator output is a probability value which is used for classification in this work. The proposed system is trained using 10,000 CT scans collected from Omid hospital. Also, we validate our system using the public dataset. The proposed method is compared with other state of the art supervised methods such as Gaussian processes. To the best of our knowledge, this is the first time a COVID-19 semi-supervised detection method is presented. Our method is capable of learning from a mixture of limited labelled and unlabelled data where supervised learners fail due to lack of sufficient amount of labelled data. Our semi-supervised training method significantly outperforms the supervised training of Convolutional Neural Network (CNN) in case labelled training data is scarce. Our method has achieved an accuracy of 99.60%, sensitivity of 99.39%, and specificity of 99.80% where CNN (trained supervised) has achieved an accuracy of 69.87%, sensitivity of 94%, and specificity of 46.40%. Copyright © 2021, The Authors. All rights reserved.

关键词： Generative adversarial networks

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Workshop proceedings: GWAS summary statistics standards and sharing

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Cell Genomics 2021年第1期1卷 100004-100004页

作者： MacArthur, Jacqueline A.L. Buniello, Annalisa Harris, Laura W. Hayhurst, James McMahon, Aoife Sollis, Elliot Cerezo, Maria Hall, Peggy Lewis, Elizabeth Whetzel, Patricia L. Bahcall, Orli G. Barroso, Inês Carroll, Robert J. Inouye, Michael Manolio, Teri A. Rich, Stephen S. Hindorff, Lucia A. Wiley, Ken Parkinson, Helen European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton United Kingdom BHF Data Science Centre Health Data Research UK London United Kingdom Division of Genomic Medicine National Human Genome Research Institute National Institutes of Health Bethesda 20892 MD United States Cell Genomics Cell Press 50 Hampshire St. 5th Floor Cambridge 02139 MA United States Exeter Centre of Excellence in Diabetes (EXCEED) University of Exeter Medical School Exeter United Kingdom Department of Biomedical Informatics Vanderbilt University Medical Center Nashville TN United States Cambridge Baker Systems Genomics Initiative Department of Public Health and Primary Care University of Cambridge Cambridge CB1 8RN United Kingdom Cambridge Baker Systems Genomics Initiative Baker Heart and Diabetes Institute 75 Commercial Rd. Melbourne 3004 VIC Australia The Alan Turing Institute London United Kingdom Center for Public Health Genomics University of Virginia Charlottesville 22908 VA United States

Genome-wide association studies (GWASs) have enabled robust mapping of complex traits in humans. The open sharing of GWAS summary statistics (SumStats) is essential in facilitating the larger meta-analyses needed for increased power in resolving the genetic basis of disease. However, most GWAS SumStats are not readily accessible because of limited sharing and a lack of defined standards. With the aim of increasing the availability, quality, and utility of GWAS SumStats, the National Human Genome Research Institute-European bioinformatics Institute (NHGRI-EBI) GWAS Catalog organized a community workshop to address the standards, infrastructure, and incentives required to promote and enable sharing. We evaluated the barriers to SumStats sharing, both technological and sociological, and developed an action plan to address those challenges and ensure that SumStats and study metadata are findable, accessible, interoperable, and reusable (FAIR). We encourage early deposition of datasets in the GWAS Catalog as the recognized central repository. We recommend standard requirements for reporting elements and formats for SumStats and accompanying metadata as guidelines for community standards and a basis for submission to the GWAS Catalog. Finally, we provide recommendations to enable, promote, and incentivize broader data sharing, standards and FAIRness in order to advance genomic medicine. © 2022 The Authors

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