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Correction: A COVID-19 Pandemic Artificial Intelligence-Based System With Deep Learning Forecasting and Automatic Statistical data Acquisition: Development and Implementation Study

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Journal of medical Internet research 2021年第7期23卷 e31085页

作者： Cheng-Sheng Yu Shy-Shin Chang Tzu-Hao Chang Jenny L Wu Yu-Jiun Lin Hsiung-Fei Chien Ray-Jade Chen Department of Family Medicine School of Medicine College of Medicine Taipei Medical University Taipei Taiwan. Department of Family Medicine Taipei Medical University Hospital Taipei Taiwan. Graduate Institute of Biomedical Informatics College of Medical Science and Technology Taipei Medical University Taipei Taiwan. Professional Master Program in Artificial Intelligence in Medicine College of Medicine Taipei Medical University Taipei Taiwan. Clinical Big Data Research Center Taipei Medical University Hospital Taipei Taiwan. Division of Plastic Surgery Department of Surgery Taipei Medical University Hospital and School of Medicine College of Medicine Taipei Medical University Taipei Taiwan. Department of Surgery School of Medicine College of Medicine Taipei Medical University Taipei Taiwan. Division of General Surgery Department of Surgery Taipei Medical University Hospital Taipei Taiwan.

[This corrects the article DOI: 10.2196/27806.].

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Automatic Extraction of Medication Mentions from Tweets-Overview of the BioCreative VII Shared Task 3 Competition

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database : the journal of biological databases and curation 2023年第2023期2023卷 baac108页

作者： Davy Weissenbacher Karen O'Connor Siddharth Rawal Yu Zhang Richard Tzong-Han Tsai Timothy Miller Dongfang Xu Carol Anderson Bo Liu Qing Han Jinfeng Zhang Igor Kulev Berkay Köprü Raul Rodriguez-Esteban Elif Ozkirimli Ammer Ayach Roland Roller Stephen Piccolo Peijin Han V G Vinod Vydiswaran Ramya Tekumalla Juan M Banda Parsa Bagherzadeh Sabine Bergler João F Silva Tiago Almeida Paloma Martinez Renzo Rivera-Zavala Chen-Kai Wang Hong-Jie Dai Luis Alberto Robles Hernandez Graciela Gonzalez-Hernandez Department of Computational Biomedicine Cedars-Sinai Medical Center Los Angeles CA USA. DBEI The Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Computer Science and Information Engineering National Central University No. 300 Zhongda Rd Zhongli District Taoyuan 320 Taiwan. IoX Center National Taiwan University Da'an District Section 4 Roosevelt Rd No. 1 Barry Lam Hall Taipei 106 Taiwan. Research Center for Humanities and Social Sciences Academia Sinica No. 128 Section 2 Academia Rd Nangang District Taipei 115 Taiwan. Computational Health Informatics Program Boston Children's Hospital Boston MA USA. Department of Pediatrics Harvard Medical School Boston MA USA. NVIDIA Santa Clara CA USA. Department of Statistics Florida State University Tallahassee FL USA. Data and Analytics Chapter F. Hoffmann-La Roche Ltd Switzerland. Pharmaceutical Research and Early Development Roche Innovation Center Basel Switzerland. Speech and Language Technology Lab DFKI Berlin Germany. Department of Biology Brigham Young University Provo UT USA. Department of Computational Medicine and Bioinformatics Medical School University of Michigan Ann Arbor MI USA. Department of Learning Health Sciences Medical School University of Michigan Ann Arbor MI USA. School of Information University of Michigan Ann Arbor MI USA. Department of Computer Science Georgia State University Atlanta GA USA. CLaC Labs Concordia University Montreal Canada. DETI Institute of Electronics and Informatics Engineering of Aveiro University of Aveiro Portugal. Department of Computation University of A Coruña Spain. Computer Science and Engineering Department Universidad Carlos III de Madrid Madrid Spain. Big Data Laboratory Chunghwa Telecom Laboratories Taoyuan Taiwan. Department of Computer Science National Yang Ming Chiao Tung University Hsinchu Taiwan. Department of Electrical Engineering College of Electrical Engineering and Computer Sci

This study presents the outcomes of the shared task competition BioCreative VII (Task 3) focusing on the extraction of medication names from a Twitter user's publicly available tweets (the user's 'timeline'). In general, detecting health-related tweets is notoriously challenging for natural language processing tools. The main challenge, aside from the informality of the language used, is that people tweet about any and all topics, and most of their tweets are not related to health. Thus, finding those tweets in a user's timeline that mention specific health-related concepts such as medications requires addressing extreme imbalance. Task 3 called for detecting tweets in a user's timeline that mentions a medication name and, for each detected mention, extracting its span. The organizers made available a corpus consisting of 182 049 tweets publicly posted by 212 Twitter users with all medication mentions manually annotated. The corpus exhibits the natural distribution of positive tweets, with only 442 tweets (0.2%) mentioning a medication. This task was an opportunity for participants to evaluate methods that are robust to class imbalance beyond the simple lexical match. A total of 65 teams registered, and 16 teams submitted a system run. This study summarizes the corpus created by the organizers and the approaches taken by the participating teams for this challenge. The corpus is freely available at https://***/tasks/biocreative-vii/track-3/. The methods and the results of the competing systems are analyzed with a focus on the approaches taken for learning from class-imbalanced data.

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature Communications 2025年第1期16卷 1-18页

作者： Maria Zanti Denise G. O’Mahony Kristia Yiangou Kyriaki Michailidou Michael T. Parsons Amanda B. Spurdle Leila Dorling Joe Dennis Marc Naven Antonis C. Antoniou Manjeet K. Bolla Qin Wang Douglas F. Easton Nicholas J. Boddicker Wenan Chen Chunling Hu Steven N. Hart Fergus J. Couch Thomas U. Ahearn Jonine D. Figueroa Montserrat García-Closas Christine B. Ambrosone Song Yao Irene L. Andrulis Gord Glendon Paul L. Auer Caroline Baynes Don M. Conroy Alison M. Dunning Craig Luccarini Clara Bodelon James M. Hodge Alpa V. Patel Lauren R. Teras Natalia V. Bogdanova Stig E. Bojesen Kristen D. Brantley Nicola J. Camp Archie Campbell Jose E. Castelao Melissa H. Cessna Jenny Chang-Claude Fei Chen Christopher A. Haiman Georgia Chenevix-Trench Kamila Czene Arcangela De Nicolo Susan M. Domchek Katherine L. Nathanson Thilo Dörk A. Heather Eliassen D. Gareth Evans Peter A. Fasching Henrik Flyger Manuela Gago-Dominguez Anna González-Neira Rocio Nuñez-Torres Felix Grassmann Andreas Hadjisavvas Mihalis I. Panayiotidis Ute Hamann Muhammad U. Rashid Diana Torres Mikael B. A. Hartman Weang-Kee Ho Reiner Hoppe Sacha J. Howell Anna Jakubowska Elza K. Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N. Kristensen James V. Lacey Jingmei Li Geok Hoon Lim Veronique Kiak-Mien Tan Sara Lindström Artitaya Lophatananon Kenneth Muir Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L. Milne Melissa C. Southey Nadia Obi Janet E. Olson Celine M. Vachon Julie R. Palmer Gary R. Zirpoli Paul D. P. Pharoah Eric C. Polley Kathryn J. Ruddy Siddhartha Yadav Emmanouil Saloustros Elinor J. Sawyer Marjanka K. Schmidt Soo Hwang Teo Amy Trentham-Dietz Thérèse Truong Jeffrey N. Weitzel Melissa S. Cline Peter Devilee Sean V. Tavtigian David E. Goldgar Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus Department of Medical Genetics Oslo University Hospital Oslo Norway Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA Usher Institute of Population Health Sciences and Informatics The University of Edinburgh Edinburgh UK Cancer Research UK Edinburgh Centre The University of Edinburgh Edinburgh UK Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA Department of Population Science American Cancer Society Atlanta GA USA Radiation Oncology Research Unit Hannover Medical School Hannover Germany Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Internal Medicine and Hu

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data ofBRCA1andBRCA2from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207BRCA1andBRCA2variants, with 6909 being coding, covering 23.4% ofBRCA1andBRCA2VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity forBRCA1and 93.3% sensitivity and 86.6% specificity forBRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

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MAGIC and H.E.S.S. detect VHE gamma rays from the blazar OT 081 for the first time: a deep multiwavelength study 37

MAGIC and H.E.S.S. detect VHE gamma rays from the blazar OT ...

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37th International Cosmic Ray Conference, ICRC 2021

作者： Seglar-Arroyo, M. Sanchez, D. Esteban Gutierrez, A. Agudo, I. Ciprini, S. Filippenko, A.V. Hovatta, T. Jermak, H. Kopatskaya, E.N. Lähteenmäki, A. Larionov, V.M. Larionova, L.V. Morozova, D.A. Pahljina, M. Tornikoski, M. Troitsky, I. Verrecchia, F. Xiao, H.B. Zheng, W. Acciari, V.A. Ansoldi, S. Antonelli, L.A. Arbet Engels, A. Artero, M. Asano, K. Baack, D. Babić, A. Baquero, A. Barres de Almeida, U. Barrio, J.A. Batković, I. Becerra González, J. Bednarek, W. Bellizzi, L. Bernardini, E. Bernardos, M. Berti, A. Besenrieder, J. Bhattacharyya, W. Bigongiari, C. Biland, A. Blanch, O. Bökenkamp, H. Bonnoli, G. Bošnjak, Ž. Busetto, G. Carosi, R. Ceribella, G. Cerruti, M. Chai, Y. Chilingarian, A. Cikota, S. Colak, S.M. Colombo, E. Contreras, J.L. Cortina, J. Covino, S. D'Amico, G. D'Elia, V. Da Vela, P. Dazzi, F. De Angelis, A. De Lotto, B. Delfino, M. Delgado, J. Delgado Mendez, C. Depaoli, D. Di Pierro, F. Di Venere, L. Do Souto Espiñeira, E. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Elsaesser, D. Fallah Ramazani, V. Fattorini, A. Fonseca, M.V. Font, L. Fruck, C. Fukami, S. Fukazawa, Y. García López, R.J. Garczarczyk, M. Gasparyan, S. Gaug, M. Giglietto, N. Giordano, F. Gliwny, P. Godinović, N. Green, J.G. Green, D. Hadasch, D. Hahn, A. Heckmann, L. Herrera, J. Hoang, J. Hrupec, D. Hütten, M. Inada, T. Ishio, K. Iwamura, Y. Jiménez Martínez, I. Jormanainen, J. Jouvin, L. Karjalainen, M. Kerszberg, D. Kobayashi, Y. Kubo, H. Kushida, J. Lamastra, A. Lelas, D. Leone, F. Lindfors, E. Linhoff, L. Lombardi, S. Longo, F. López-Coto, R. López-Moya, M. López-Oramas, A. Loporchio, S. Machado de Oliveira Fraga, B. Maggio, C. Majumdar, P. Makariev, M. Mallamaci, M. Maneva, G. Manganaro, M. Mannheim, K. Maraschi, L. Mariotti, M. Martínez, M. Mazin, D. Menchiari, S. Mender, S. Mićanović, S. Miceli, D. Miener, T. Miranda, J.M. Mirzoyan, R. Molina, E. Moralejo, A. Morcuende, D. Moreno, V. Moretti, E. Nakamori, T. Nava, L. Neustroev, V. University of Rijeka Department of Physics Radmile Matejčić 2 Rijeka Croatia IRFU CEA Université Paris-Saclay Gif-sur-YvetteF-91191 France CNRS LAPP France CSIC Granada Spain Roma Tor Vergata Section RomeI-00133 Italy ASI Space Science Data Center RomeI-00133 Italy Department of Astronomy University of California BerkeleyCA94720-3411 United States Miller Institute for Basic Research in Science University of California BerkeleyCA94720 United States Aalto University Tuorla observatory Finland Liverpool John Moores University United Kingdom St. Petersburg State University Russia Aalto University Finland INAF Osservatorio Astronomico di Roma via Frascati 33 Monte Porzio CatoneI-00078 Italy Guangzhou University China Instituto de Astrofísica de Canarias Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain Università di Udine INFN Trieste UdineI-33100 Italy RomeI-00136 Italy ETH Zürich ZürichCH-8093 Switzerland E-08193 Spain The University of Tokyo Chiba Kashiwa277-8582 Japan Technische Universität Dortmund DortmundD-44221 Germany Zagreb10000 Croatia IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain URCA RJ Rio de Janeiro22290-180 Brazil Università di Padova INFN PadovaI-35131 Italy University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Poland Università di Siena INFN Pisa SienaI-53100 Italy ZeuthenD-15738 Germany Max-Planck-Institut für Physik MünchenD-80805 Germany Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain Università di Pisa INFN Pisa PisaI-56126 Italy Universitat de Barcelona ICCUB IEEC-UB BarcelonaE-08028 Spain Armenian MAGIC Group A. Alikhanyan National Science Laboratory Yerevan0036 Armenia Centro de Investigaciones Energéticas Medioambientales y Tecnológicas MadridE-28040 Spain INFN MAGIC Group INFN Sezione di Torino Università d

OT 081 is a luminous blazar well known for its variability in many energy bands. The very-high-energy (VHE;E > 100 GeV) gamma-ray emission from the source was discovered by MAGIC and H.E.S.S. during flaring activity in July 2016, after a trigger from the Large Area Telescope (LAT) onboard the Fermi satellite. By analysing the multiwavelength light curves and the broadband spectral energy distribution (SED), we study the activity of the source and investigate four individual states of activity in the window from MJD 57575 to 57602. The intrinsic gamma-ray spectrum can be described by a power law with spectral indices of 3.27 ± 0.44 (MAGIC) and 3.39 ± 0.58 (H.E.S.S.) over energy ranges 60-300 GeV and 120-500 GeV, respectively. The combined contemporaneous high-energy (HE;E > 100 MeV) through VHE SED shows curvature and can be described by a log-parabola shape. A simple one-zone synchrotron self-Compton (SSC) model is not sufficient to describe the broadband SED. The presence of broad emission lines in the optical spectrum of the source challenges the categorisation of OT 081 as a BL Lac and, together with the emission scenarios tested, points to the possibility that the source is transitional in nature between a BL Lac and a flat-spectrum radio quasar. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Germanium alloys

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Reproducible brain-wide association studies require thousands of individuals (Mar, 10.1038/s41586-022-04492-9, 2022)

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NATURE 2022年第7911期605卷 E11-E11页

作者： Marek, Scott Tervo-Clemmens, Brenden Calabro, Finnegan J. Montez, David F. Kay, Benjamin P. Hatoum, Alexander S. Donohue, Meghan Rose Foran, William Miller, Ryland L. Hendrickson, Timothy J. Malone, Stephen M. Kandala, Sridhar Feczko, Eric Miranda-Dominguez, Oscar Graham, Alice M. Earl, Eric A. Perrone, Anders J. Cordova, Michaela Doyle, Olivia Moore, Lucille A. Conan, Gregory M. Uriarte, Johnny Snider, Kathy Lynch, Benjamin J. Wilgenbusch, James C. Pengo, Thomas Tam, Angela Chen, Jianzhong Newbold, Dillan J. Zheng, Annie Seider, Nicole A. Van, Andrew N. Metoki, Athanasia Chauvin, Roselyne J. Laumann, Timothy O. Greene, Deanna J. Petersen, Steven E. Garavan, Hugh Thompson, Wesley K. Nichols, Thomas E. Yeo, B. T. Thomas Barch, Deanna M. Luna, Beatriz Fair, Damien A. Dosenbach, Nico U. F. Department of Psychiatry Washington University School of Medicine St Louis MO USA Department of Neurology Washington University School of Medicine St Louis MO USA Department of Psychological and Brain Sciences Washington University in St Louis St Louis MO USA Department of Psychiatry Massachusetts General Hospital Harvard Medical School Boston MA USA Department of Psychology University of Pittsburgh Pittsburgh PA USA Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Department of Bioengineering University of Pittsburgh Pittsburgh PA USA Department of Biomedical Engineering Washington University in St Louis St Louis MO USA Department of Radiology Washington University School of Medicine St Louis MO USA Department of Neurological Surgery Washington University School of Medicine St Louis MO USA Program in Occupational Therapy Washington University School of Medicine St Louis MO USA Department of Pediatrics Washington University School of Medicine St Louis MO USA University of Minnesota Informatics Institute University of Minnesota Minneapolis MN USA Department of Psychology University of Minnesota Minneapolis MN USA Masonic Institute for the Developing Brain University of Minnesota Medical School Minneapolis MN USA Department of Pediatrics University of Minnesota Medical School Minneapolis MN USA Department of Psychiatry Oregon Health and Science University Portland OR USA Minnesota Supercomputing Institute University of Minnesota Minneapolis MN USA Institute of Child Development University of Minnesota Medical School Minneapolis MN USA Department of Electrical and Computer Engineering National University of Singapore Singapore Singapore Centre for Sleep and Cognition National University of Singapore Singapore Singapore Centre for Translational MR Research National University of Singapore Singapore Singapore N.1 Institute for Health Institute for Digital Medicine National University of Singapore Singapore Sing

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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

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Biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

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Corrigendum to "Investigating nurses' acceptance of patients' bring your own device implementation in a clinical setting: A pilot study" [Asia-Pacific J Oncol Nurs 10 (2023) 100195]

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Asia-Pacific journal of oncology nursing 2024年第5期11卷 100437页

作者： Shuo-Chen Chien Chun-You Chen Chia-Hui Chien Usman Iqbal Hsuan-Chia Yang Huei-Chia Hsueh Shuen-Fu Weng Wen-Shan Jian Graduate Institute of Biomedical Informatics College of Medical Science and Technology Taipei Medical University Taipei Taiwan. Artificial Intelligence Research and Development Center Wan Fang Hospital Taipei Medical University Taipei Taiwan. International Center for Health Information and Technology College of Medical Science and Technology Taipei Medical University Taipei Taiwan. Department of Radiation Oncology Wan Fang Hospital Taipei Medical University Taipei Taiwan. Office of Public Affairs Taipei Medical University Taipei Taiwan. Health ICT Department of Health Tasmania Australia. Global Health and Health Security Department College of Public Health Taipei Medical University Taipei Taiwan. Department of Artificial Intelligence in Medicine Professional Master Program Taipei Medical University Taipei Taiwan. Department of Pharmacy Taipei Veterans General Hospital Taipei Taiwan. Division of Endocrinology and Metabolism Department of Internal Medicine Taipei Medical University Hospital Taipei Taiwan. Division of Endocrinology and Metabolism Department of Internal Medicine School of Medicine College of Medicine Taipei Medical University Taipei Taiwan. School of Health Care Administration Taipei Medical University Taipei Taiwan. School of Gerontology Health Management College of Nursing Taipei Medical University Taipei Taiwan. Research Center for Artificial Intelligence in Medicine Taipei Medical University Taipei Taiwan. Graduate Institute of Data Science Taipei Medical University Taipei Taiwan.

[This corrects the article DOI: 10.1016/***.2023.100195.].

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Genome-wide analyses identify 30 loci associated with obsessive–compulsive disorder

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Nature Genetics 2025年 1-13页

作者： Strom, Nora I. Gerring, Zachary F. Galimberti, Marco Yu, Dongmei Halvorsen, Matthew W. Abdellaoui, Abdel Rodriguez-Fontenla, Cristina Sealock, Julia M. Bigdeli, Tim Coleman, Jonathan R. Mahjani, Behrang Thorp, Jackson G. Bey, Katharina Burton, Christie L. Luykx, Jurjen J. Zai, Gwyneth Alemany, Silvia Andre, Christine Askland, Kathleen D. Bäckman, Julia Banaj, Nerisa Barlassina, Cristina Nissen, Judith Becker Bienvenu, O. Joseph Black, Donald Bloch, Michael H. Børte, Sigrid Bosch, Rosa Breen, Michael Brennan, Brian P. Brentani, Helena Buxbaum, Joseph D. Bybjerg-Grauholm, Jonas Byrne, Enda M. Cabana-Dominguez, Judit Camarena, Beatriz Camarena, Adrian Cappi, Carolina Carracedo, Angel Casas, Miguel Cavallini, Maria Cristina Ciullo, Valentina Cook, Edwin H. Crosby, Jesse Cullen, Bernadette A. De Schipper, Elles J. Delorme, Richard Djurovic, Srdjan Elias, Jason A. Estivill, Xavier Falkenstein, Martha J. Fundin, Bengt T. Garner, Lauryn Gironda, Christina Goes, Fernando S. Grados, Marco A. Grove, Jakob Guo, Wei Haavik, Jan Hagen, Kristen Harrington, Kelly Havdahl, Alexandra Höffler, Kira D. Hounie, Ana G. Hucks, Donald Hultman, Christina Janecka, Magdalena Jenike, Eric Karlsson, Elinor K. Kelley, Kara Klawohn, Julia Krasnow, Janice E. Krebs, Kristi Lange, Christoph Lanzagorta, Nuria Levey, Daniel Lindblad-Toh, Kerstin Macciardi, Fabio Maher, Brion Mathes, Brittany McArthur, Evonne McGregor, Nathaniel McLaughlin, Nicole C. Meier, Sandra Miguel, Euripedes C. Mulhern, Maureen Nestadt, Paul S. Nurmi, Erika L. O’Connell, Kevin S. Osiecki, Lisa Ousdal, Olga Therese Palviainen, Teemu Pedersen, Nancy L. Piras, Federica Potluri, Sriramya Rabionet, Raquel Ramirez, Alfredo Rauch, Scott Reichenberg, Abraham Riddle, Mark A. Ripke, Stephan Rosário, Maria C. Sampaio, Aline S. Schiele, Miriam A. Skogholt, Anne Heidi Sloofman, Laura G. Smit, Jan Artigas, María Soler Thomas, Laurent F. Tifft, Eric Vallada, Homero van Kirk, Nathanial Veenstra-VanderWeele, Jeremy Vulink, Nienke N. Walker, Christopher P. Wang, Ying Wendland, Jens R. Winsvold Department of Psychology Humboldt-Universität zu Berlin Berlin Germany Department of Psychiatric Phenomics and Genomics (IPPG) Ludwig-Maximilians University Munich Munich Germany Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet and Stockholm Health Services Region Stockholm Stockholm Sweden Department of Biomedicine Aarhus University Aarhus Denmark University Hospital of Psychiatry and Psychotherapy University of Bern Bern Switzerland Department of Mental Health and Neuroscience Translational Neurogenomics QIMR Berghofer Medical Research Institute Brisbane QLD Australia Department of Population Health and Immunity Healthy Development and Ageing Walter and Eliza Hall Institute of Medical Research Melbourne VIC Australia Department of Psychiatry Human Genetics Yale University New Haven CT United States VA Connecticut Healthcare System West Haven CT United States Department of Center for Genomic Medicine Psychiatric and Neurodevelopmental Genetics Unit Massachusetts General Hospital Boston MA United States Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA United States Department of Genetics University of North Carolina at Chapel Hill Chapel Hill NC United States Department of Psychiatry Amsterdam University Medical Centers University of Amsterdam Amsterdam Netherlands Center for Research in Molecular Medicine and Chronic Diseases (CiMUS) Genomics and Bioinformatics University of Santiago de Compostela Santiago de Compostela Spain Grupo de Medicina Xenómica Genetics Instituto de Investigación Sanitaria de Santiago de Compostela (FIDIS) Santiago de Compostela Spain Vanderbilt Genetics Institute Vanderbilt University Nashville TN United States Department of Psychiatry and Behavioral Sciences SUNY Downstate Health Sciences University Brooklyn NY United States VA NY Harbor Healthcare System Brooklyn NY United States Social Genetic and Developmental Psychiatry Centre Insti

Obsessive–compulsive disorder (OCD) affects ~1% of children and adults and is partly caused by genetic factors. We conducted a genome-wide association study (GWAS) meta-analysis combining 53,660 OCD cases and 2,044,417 controls and identified 30 independent genome-wide significant loci. Gene-based approaches identified 249 potential effector genes for OCD, with 25 of these classified as the most likely causal candidates, including WDR6, DALRD3 and CTNND1 and multiple genes in the major histocompatibility complex (MHC) region. We estimated that ~11,500 genetic variants explained 90% of OCD genetic heritability. OCD genetic risk was associated with excitatory neurons in the hippocampus and the cortex, along with D₁ and D₂ type dopamine receptor-containing medium spiny neurons. OCD genetic risk was shared with 65 of 112 additional phenotypes, including all the psychiatric disorders we examined. In particular, OCD shared genetic risk with anxiety, depression, anorexia nervosa and Tourette syndrome and was negatively associated with inflammatory bowel diseases, educational attainment and body mass index. © The Author(s) 2025.

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Identifying the best machine learning algorithms for brain tumor segmentation, progression assessment, and overall survival prediction in the BRATS challenge

arXiv

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arXiv 2018年

作者： Bakas, Spyridon Reyes, Mauricio Jakab, Andras Bauer, Stefan Rempfler, Markus Crimi, Alessandro Shinohara, Russell Takeshi Berger, Christoph Ha, Sung Min Rozycki, Martin Prastawa, Marcel Alberts, Esther Lipkova, Jana Freymann, John Kirby, Justin Bilello, Michel Fathallah-Shaykh, Hassan M. Wiest, Roland Kirschke, Jan Wiestler, Benedikt Colen, Rivka Kotrotsou, Aikaterini Lamontagne, Pamela Marcus, Daniel Milchenko, Mikhail Nazeri, Arash Weber, Marc-Andr Mahajan, Abhishek Baid, Ujjwal Gerstner, Elizabeth Kwon, Dongjin Acharya, Gagan Agarwal, Manu Alam, Mahbubul Albiol, Alberto Albiol, Antonio Albiol, Francisco J. Alex, Varghese Allinson, Nigel Amorim, Pedro H.A. Amrutkar, Abhijit Anand, Ganesh Andermatt, Simon Arbel, Tal Arbelaez, Pablo Avery, Aaron Azmat, Muneeza Pranjal, B. Bai, Wenjia Banerjee, Subhashis Barth, Bill Batchelder, Thomas Batmanghelich, Kayhan Battistella, Enzo Beers, Andrew Belyaev, Mikhail Bendszus, Martin Benson, Eze Bernal, Jose Bharath, Halandur Nagaraja Biros, George Bisdas, Sotirios Brown, James Cabezas, Mariano Cao, Shilei Cardoso, Jorge M. Carver, Eric N. Casamitjana, Adri Castillo, Laura Silvana Cat, Marcel Cattin, Philippe Cérigues, Albert Chagas, Vinicius S. Chandra, Siddhartha Chang, Yi-Ju Chang, Shiyu Chang, Ken Chazalon, Joseph Chen, Shengcong Chen, Wei Chen, Jefferson W. Chen, Zhaolin Cheng, Kun Choudhury, Ahana Roy Chylla, Roger Clrigues, Albert Colleman, Steven Colmeiro, Ramiro German Rodriguez Combalia, Marc Costa, Anthony Cui, Xiaomeng Dai, Zhenzhen Dai, Lutao Daza, Laura Alexandra Deutsch, Eric Ding, Changxing Dong, Chao Dong, Shidu Dudzik, Wojciech Eaton-Rosen, Zach Egan, Gary Escudero, Guilherme Estienne, Tho Everson, Richard Fabrizio, Jonathan Fan, Yong Fang, Longwei Feng, Xue Ferrante, Enzo Fidon, Lucas Fischer, Martin French, Andrew P. Fridman, Naomi Fu, Huan Fuentes, David Gao, Yaozong Gates, Evan Gering, David Gholami, Amir Gierke, Willi Glocker, Ben Gong, Mingming Gonzlez-Vill, Sandra Grosges, T. Guan, Yuanfang Guo, Sheng Gupta, Sudeep Han, Woo-Sup Han, Il Song Harmuth, Ko Center for Biomedical Image Computing and Analytics University of Pennsylvania PhiladelphiaPA United States 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 Institute for Surgical Technology and Biomechanics University of Bern Bern Switzerland Center for MR-Research University Children's Hospital Zurich Zurich Switzerland Support Centre for Advanced Neuroimaging Inselspital Institute for Diagnostic and Interventional Neuroradiology Bern University Hospital Bern Switzerland University Hospital of Zurich Zurich Switzerland Center for Clinical Epidemiology and Biostatistics University of Pennsylvania Philadelphia United States Image-Based Biomedical Modeling Group Technical University of Munich Munich Germany Icahn School of Medicine Mount Sinai Health System New YorkNY United States Leidos Biomedical Research Inc. Frederick National Laboratory for Cancer Research FrederickMD21701 United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD20814 United States Department of Neurology University of Alabama at Birmingham BirminghamAL United States Department of Diagnostic Radiology University of Texas MD Anderson Cancer Center HoustonTX United States Department of Psychology Washington University St. LouisMO United States Neuroimaging Informatics and Analysis Center Washington University St. LouisMO United States Department of Radiology Washington University St. LouisMO United States Institute of Diagnostic and Interventional Radiology Pediatric Radiology and Neuroradiology University Medical Center Rostock Ernst-Heydemann-Str. 6 Rostock18057 Germany Tata Memorial Centre Homi Bhabha National Institute Mumbai India Shri Guru Gobind Singhji Institute of Engineering and Technology Nanded India NVIDIA Santa Clara

Gliomas are the most common primary brain malignancies, with different degrees of aggressiveness, variable prognosis and various heterogeneous histologic sub-regions, i.e., peritumoral edematous/invaded tissue, necrotic core, active and non-enhancing core. This intrinsic heterogeneity is also portrayed in their radio-phenotype, as their sub-regions are depicted by varying intensity profiles disseminated across multi-parametric magnetic resonance imaging (mpMRI) scans, reflecting varying biological properties. Their heterogeneous shape, extent, and location are some of the factors that make these tumors difficult to resect, and in some cases inoperable. The amount of resected tumor is a factor also considered in longitudinal scans, when evaluating the apparent tumor for potential diagnosis of progression. Furthermore, there is mounting evidence that accurate segmentation of the various tumor sub-regions can offer the basis for quantitative image analysis towards prediction of patient overall survival. This study assesses the state-of-the-art machine learning (ML) methods used for brain tumor image analysis in mpMRI scans, during the last seven instances of the International Brain Tumor Segmentation (BraTS) challenge, i.e., 2012-2018. Specifically, we focus on i) evaluating segmentations of the various glioma sub-regions in pre-operative mpMRI scans, ii) assessing potential tumor progression by virtue of longitudinal growth of tumor sub-regions, beyond use of the RECIST/RANO criteria, and iii) predicting the overall survival from pre-operative mpMRI scans of patients that underwent gross total resection. Finally, we investigate the challenge of identifying the best ML algorithms for each of these tasks, considering that apart from being diverse on each instance of the challenge, the multi-institutional mpMRI BraTS dataset has also been a continuously evolving/growing dataset. Copyright © 2018, The Authors. All rights reserved.

关键词： Tumors

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Follow-up observations of GW170817 with the MAGIC telescopes 37

Follow-up observations of GW170817 with the MAGIC telescopes

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37th International Cosmic Ray Conference, ICRC 2021

作者： Stamerra, A. Salafia, O.S. Berti, A. Covino, S. D'Elia, V. Miceli, D. Nava, L. Patricelli, B. Righi, C. Inoue, S. Antonelli, L.A. Ansoldi, S. De Lotto, B. Longo, F. Tavecchio, F. Acciari, V.A. Arbet Engels, A. Artero, M. Asano, K. Baack, D. Babić, A. Baquero, A. Barres de Almeida, U. Barrio, J.A. Batković, I. Becerra González, J. Bednarek, W. Bellizzi, L. Bernardini, E. Bernardos, M. Besenrieder, J. Bhattacharyya, W. Bigongiari, C. Biland, A. Blanch, O. Bökenkamp, H. Bonnoli, G. Bošnjak, Ž. Busetto, G. Carosi, R. Ceribella, G. Cerruti, M. Chai, Y. Chilingarian, A. Cikota, S. Colak, S.M. Colombo, E. Contreras, J.L. Cortina, J. D'Amico, G. Da Vela, P. Dazzi, F. De Angelis, A. Delfino, M. Delgado, J. Delgado Mendez, C. Depaoli, D. Di Pierro, F. Di Venere, L. Do Souto Espiñeira, E. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Elsaesser, D. Fallah Ramazani, V. Fattorini, A. Fonseca, M.V. Font, L. Fruck, C. Fukami, S. Fukazawa, Y. García López, R.J. Garczarczyk, M. Gasparyan, S. Gaug, M. Giglietto, N. Giordano, F. Gliwny, P. Godinović, N. Green, J.G. Green, D. Hadasch, D. Hahn, A. Heckmann, L. Herrera, J. Hoang, J. Hrupec, D. Hütten, M. Inada, T. Ishio, K. Iwamura, Y. Jiménez Martínez, I. Jormanainen, J. Jouvin, L. Karjalainen, M. Kerszberg, D. Kobayashi, Y. Kubo, H. Kushida, J. Lamastra, A. Lelas, D. Leone, F. Lindfors, E. Linhoff, L. Lombardi, S. López-Coto, R. López-Moya, M. López-Oramas, A. Loporchio, S. Machado de Oliveira Fraga, B. Maggio, C. Majumdar, P. Makariev, M. Mallamaci, M. Maneva, G. Manganaro, M. Mannheim, K. Maraschi, L. Mariotti, M. Martínez, M. Mazin, D. Menchiari, S. Mender, S. Mićanović, S. Miener, T. Miranda, J.M. Mirzoyan, R. Molina, E. Moralejo, A. Morcuende, D. Moreno, V. Moretti, E. Nakamori, T. Neustroev, V. Nigro, C. Nilsson, K. Nishijima, K. Noda, K. Nozaki, S. Ohtani, Y. Oka, T. Otero-Santos, J. Paiano, S. Palatiello, M. Paneque, D. Paoletti, R. Paredes, J.M. INAF - Osservatorio Astronomico di Roma Rome Italy INAF - Osservatorio Astronomico di Brera Merate Italy Rome Italy Max-Planck-Institut für Physik München Germany Space Science Data Center - Agenzia Spaziale Italiana Rome Italy European Gravitational Observatory Pisa Italy RIKEN Saitama Wako Japan Università di Udine INFN Trieste Udine Italy Dipartimento di Fisica Università di Trieste Trieste Italy Scuola Normale Superiore Pisa Italy Instituto de Astrofísica de Canarias Dpto. de Astrofísica Universidad de La Laguna Tenerife La LagunaE-38200 Spain Università di Udine INFN Trieste UdineI-33100 Italy RomeI-00136 Italy ETH Zürich ZürichCH-8093 Switzerland E-08193 Spain The University of Tokyo Chiba Kashiwa277-8582 Japan Technische Universität Dortmund DortmundD-44221 Germany Zagreb10000 Croatia IPARCOS Institute EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain URCA RJ Rio de Janeiro22290-180 Brazil Università di Padova INFN PadovaI-35131 Italy University of Lodz Faculty of Physics and Applied Informatics Department of Astrophysics Lodz90-236 Poland Università di Siena INFN Pisa SienaI-53100 Italy ZeuthenD-15738 Germany Max-Planck-Institut für Physik MünchenD-80805 Germany Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain Università di Pisa INFN Pisa PisaI-56126 Italy Universitat de Barcelona ICCUB IEEC-UB BarcelonaE-08028 Spain Armenian MAGIC Group A. Alikhanyan National Science Laboratory Yerevan0036 Armenia Centro de Investigaciones Energéticas Medioambientales y Tecnológicas MadridE-28040 Spain INFN MAGIC Group INFN Sezione di Torino Università degli Studi di Torino TorinoI-10125 Italy INFN MAGIC Group INFN Sezione di Bari Dipartimento Interateneo di Fisica Università e del Politecnico di Bari BariI-70125 Italy Croatian MAGIC Group University of Rijeka Department of Physics Rijeka51000 Croatia Universität Würzburg WürzburgD-

The discovery of the electromagnetic counterpart AT2017gfo and the GRB 170817A, associated to the binary neutron star merger GW170817, was one of the major advances in the study of gamma-ray bursts (GRBs) and the hallmark of the multi-messenger astronomy with gravitational waves. Another breakthrough in GRB physics is represented by the discovery of the highly energetic, teraelectronvolt (TeV) component in the GRB 190114C, possibly an universal component in all GRBs. This conclusion is also suggested by the hint of TeV emission in the short GRB 160821B and a few more events reported in the literature. The missing observational piece is the joint detection of TeV emission and gravitational waves from a short GRB and its progenitor. MAGIC observed the counterpart AT2017gfo as soon as the visibility conditions allowed it, namely from January to June 2018. These observations correspond to the maximum flux level observed in the radio and X-ray bands. The upper limits derived from TeV observations are compared with the modelling of the late non-thermal emission using the multi-frequency SED. © Copyright owned by the author(s) under the terms of the Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International License (CC BY-NC-ND 4.0)

关键词： Gravity waves

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