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

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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Racial and Ethnic Variation in ECMO Utilization and Outcomes in Pediatric Cardiac ICU Patients

JACC: Advances

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JACC: Advances 2023年第9期2卷 100634-100634页

作者： Brunetti, Marissa A. Griffis, Heather M. Glatz, Andrew C. Huang, Jing Schumacher, Kurt R. Bailly, David K. Domnina, Yuliya Lasa, Javier J. Moga, Michael Alice Zaccagni, Hayden Simsic, Janet M. Gaynor, J. William Department of Anesthesiology and Critical Care Medicine University of Pennsylvania Perelman School of Medicine and Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Data Science and Biostatistics Unit Department of Biomedical and Health Informatics Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Division of Cardiology Department of Pediatrics University of Pennsylvania Perelman School of Medicine Children's Hospital of Philadelphia Center for Pediatric Clinical Effectiveness Children's Hospital of Philadelphia Philadelphia Pennsylvania USA United States Leonard Davis Institute and Cardiovascular Outcomes Quality Evaluative Research Center Perelman School of Medicine at the University of Pennsylvania Philadelphia PA United States Department of Biostatistics Epidemiology and Informatics Perelman School of Medicine at the University of Pennsylvania Philadelphia PA United States Department of Pediatrics Children's Hospital of Philadelphia Philadelphia PA United States Department of Pediatrics University of Michigan Medical School and C.S. Mott Children's Hospital Ann Arbor Michigan USA United States Department of Pediatrics University of Utah and Primary Children's Hospital Salt Lake City Utah USA United States Division of Cardiac Critical Care Medicine George Washington University School of Medicine and Children's National Hospital Washington DC USA United States Divisions of Critical Care Medicine and Cardiology Department of Pediatrics Texas Children's Hospital Baylor College of Medicine Houston TX United States Department of Critical Care Medicine The Hospital for Sick Children Toronto Canada Section of Cardiac Critical Care Medicine Department of Pediatrics Children's of Alabama and University of Alabama Medicine Birmingham AL United States The Heart Center at Nationwide Children's Hospital Columbus OH United States Department of Surgery University of Pennsylvania Perelman School of

Background: Previous studies have reported racial disparities in extracorporeal membrane oxygenation (ECMO) utilization in pediatric cardiac patients. Objectives: The objective of this study was to determine if there was racial/ethnic variation in ECMO utilization and, if so, whether mortality was mediated by differences in ECMO utilization. Methods: This is a multicenter, retrospective cohort study of the Pediatric Cardiac Critical Care Consortium clinical registry. Analyses were stratified by hospitalization type (medical vs surgical). Logistic regression models were adjusted for confounders and evaluated the association between race/ethnicity with ECMO utilization and mortality. Secondary analyses explored interactions between race/ethnicity, insurance, and socioeconomic status with ECMO utilization and mortality. Results: A total of 50,552 hospitalizations from 34 hospitals were studied. Across all hospitalizations, 2.9% (N = 1,467) included ECMO. In medical and surgical hospitalizations, Black race and Hispanic ethnicity were associated with severity of illness proxies. In medical hospitalizations, race/ethnicity was not associated with the odds of ECMO utilization. Hospitalizations of other race had higher odds of mortality (adjusted odds ratio [aOR]: 1.61;95% CI: 1.22-2.12;P = 0.001). For surgical hospitalizations, Black (aOR: 1.24;95% CI: 1.02-1.50;P = 0.03) and other race (aOR: 1.50;95% CI: 1.17-1.93;P = 0.001) were associated with higher odds of ECMO utilization. Hospitalizations of Hispanic patients had higher odds of mortality (aOR: 1.31;95% CI: 1.03-1.68;P = 0.03). No significant interactions were demonstrated between race/ethnicity and socioeconomic status indicators with ECMO utilization or mortality. Conclusions: Black and other races were associated with increased ECMO utilization during surgical hospitalizations. There were racial/ethnic disparities in outcomes not explained by differences in ECMO utilization. Efforts to mitigate these important di

关键词： cardiac disease extracorporeal membrane oxygenation pediatric race and ethnicity

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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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Multi-ancestry study of the genetics of problematic alcohol use in over 1 million individuals

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NATURE MEDICINE 2023年第12期29卷 3184-3192页

作者： Zhou, Hang Kember, Rachel. L. Deak, Joseph. D. Xu, Heng Tolkumo, Sylvanus Yuan, Kai Lind, Penelope A. Farajzadeh, Lella Wang, Lu Hatoum, Alexander. S. Johnson, Jessica Lee, Hyunjoo Mallard, Travis. T. Xu, Jiayi Johnston, Keira J. A. Johnson, Emma C. Nielsen, Trine Tollerup Galimberti, Marco Dao, Cecilia Levey, Daniel F. Overstreet, Cassie Byrne, Enda. M. Gillespie, Nathan. A. Gordon, Scott Sanchez-Roige, Sandra Madden, Paamela A. F. Heath, Andrew C. Medland, Sarah E. Martin, Nicholas G. Ge, Tian Smoller, Jordan. W. Hougaard, David. M. Borglum, Anders D. Demontis, Ditte Krystal, John. H. Gaziano, J. Michael Edenberg, Howard J. Agarwal, Arpana Justice, Amy. C. Stein, Murray B. Kranzler, Henry. R. Gelernter, Joel Department of Psychiatry Yale School of Medicine New Haven CT USA Veterans Affairs Connecticut Healthcare System West Haven CT USA Section of Biomedical Informatics and Data Science Yale School of Medicine New Haven CT USA Crescenz Veterans Affairs Medical Center Philadelphia PA USA Department of Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia PA USA Stanley Center for Psychiatric Research The Broad Institute of MIT and Harvard Cambridge MA USA Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital Boston MA USA Psychiatric Genetics QIMR Berghofer Medical Research Institute Brisbane Queensland Australia School of Biomedical Sciences Queensland University of Technology Brisbane Queensland Australia Faculty of Medicine University of Queensland Brisbane Queensland Australia Department of Biomedicine – Human Genetics Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Aarhus Denmark Center for Genomics and Personalized Medicine Aarhus Denmark Department of Psychological and Brain Sciences Washington University in St. Louis Saint Louis MO USA Pamela Sklar Division of Psychiatric Genomics Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA Psychiatric and Neurodevelopmental Genetics Unit Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Department of Psychiatry Massachusetts General Hospital Harvard Medical School Boston MA USA Department of Psychiatry Washington University School of Medicine Saint Louis MO USA Child Health Research Centre The University of Queensland Brisbane Queensland Australia Institute for Psychiatric and Behavioral Genetics Department of Psychiatry Virginia Commonwealth University Richmond VA USA Genetic Epidemiology QIMR Berghofer Med

Problematic alcohol use (PAU), a trait that combines alcohol use disorder and alcohol-related problems assessed with a questionnaire, is a leading cause of death and morbidity worldwide. Here we conducted a large cross-ancestry meta-analysis of PAU in 1,079,947 individuals (European, N = 903,147;African, N = 122,571;Latin American, N = 38,962;East Asian, N = 13,551;and South Asian, N = 1,716 ancestries). We observed a high degree of cross-ancestral similarity in the genetic architecture of PAU and identified 110 independent risk variants in within- and cross-ancestry analyses. Cross-ancestry fine mapping improved the identification of likely causal variants. Prioritizing genes through gene expression and chromatin interaction in brain tissues identified multiple genes associated with PAU. We identified existing medications for potential pharmacological studies by a computational drug repurposing analysis. Cross-ancestry polygenic risk scores showed better performance of association in independent samples than single-ancestry polygenic risk scores. Genetic correlations between PAU and other traits were observed in multiple ancestries, with other substance use traits having the highest correlations. This study advances our knowledge of the genetic etiology of PAU, and these findings may bring possible clinical applicability of genetics insights-together with neuroscience, biology and data science-closer. A multi-ancestry genome-wide association study of problematic alcohol use in one million individuals identified 110 risk variants and shows that multi-ancestry polygenic scores improve risk prediction compared with single-ancestry scores

关键词： Addiction Genome-wide association studies

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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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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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Corrigendum to "Patterns of co-occurring birth defects among infants with hypospadiasˮ [J Pediatr Urol 17 (2021) 64.e1-64.e8]

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Journal of pediatric urology 2021年第4期17卷 e1页

作者： Katherine L Ludorf Renata H Benjamin Maria Luisa Navarro Sanchez Scott D McLean Hope Northrup Laura E Mitchell Peter H Langlois Mark A Canfield Angela E Scheuerle Daryl A Scott Christian P Schaaf Joseph W Ray Omobola Oluwafemi Han Chen Michael D Swartz Philip J Lupo A J Agopian Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Clinical Genetics Section The Children's Hospital of San Antonio San Antonio TX USA. Department of Pediatrics Division of Medical Genetics McGovern Medical School University of Texas Health Science Center at Houston Houston TX USA. Birth Defects Epidemiology and Surveillance Branch Texas Department of State Health Services Austin TX USA. Department of Pediatrics Division of Genetics and Metabolism University of Texas Southwestern Medical Center Dallas TX USA. Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Department of Molecular Physiology and Biophysics Baylor College of Medicine Houston TX USA. Jan and Dan Duncan Neurological Research Institute Texas Children's Hospital Houston TX USA Heidelberg University Institute of Human Genetics Heidelberg Germany. Department of Pediatrics Division of Medical Genetics and Metabolism University of Texas Medical Branch Galveston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA Center for Precision Health UTHealth School of Public Health and UTHealth School of Biomedical Informatics Houston TX USA. Department of Biostatistics and Data Science UTHealth School of Public Health Houston TX USA. Department of Pediatrics Section of Hematology-Oncology Baylor College of Medicine Houston TX USA. Department of Epidemiology Human Genetics and Environmental Sciences UTHealth School of Public Health Houston TX USA. Electronic address: a.j.agopian@uth.tmc.edu.

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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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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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Host galaxy magnitude of OJ 287 from its colours at minimum light

arXiv

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arXiv 2022年

作者： Valtonen, Mauri J. Dey, Lankeswar Zola, S. Ciprini, S. Kidger, M. Pursimo, T. Gopakumar, A. Matsumoto, K. Sadakane, K. Caton, D.B. Nilsson, K. Komossa, S. Bagaglia, M. Baransky, A. Boumis, P. Boyd, D. Castro-Tirado, A.J. Debski, B. Drozdz, M. Escartin Pérez, A. Fiorucci, M. Garcia, F. Gazeas, K. Ghosh, S. Godunova, V. Gomez, J.L. Gredel, R. Grupe, D. Haislip, J.B. Henning, T. Hurst, G. Janík, J. Kouprianov, V.V. Lehto, H. Liakos, A. Mathur, S. Mugrauer, M. Naves Nogues, R. Nucciarelli, G. Ogloza, W. Ojha, D.K. Pajdosz-Śmierciak, U. Pascolini, S. Poyner, G. Reichart, D.E. Rizzi, N. Roncella, F. Sahu, D.K. Sillanpää, A. Simon, A. Siwak, M. Soldán Alfaro, F.C. Sonbas, E. Tosti, G. Vasylenko, V. Webb, J.R. Zielinski, P. Finnish Centre for Astronomy with ESO University of Turku Finland Tuorla Observatory Department of Physics and Astronomy University of Turku Finland Department of Astronomy and Astrophysics Tata Institute of Fundamental Research Mumbai400005 India Astronomical Observatory Jagiellonian University ul. Orla 171 KrakowPL-30-244 Poland Mt Suhora Observatory Pedagogical University ul. Podchorazych 2 KrakowPL-30-084 Poland Space Science Data Center - Agenzia Spaziale Italiana via del Politecnico snc RomaI-00133 Italy Instituto Nazionale di Fisica Nucleare Sezione di Perugia PerugiaI-06123 Italy European Space Agency European Space Astronomy Centre Villanueva de la Cañada Madrid28691 Spain Nordic Optical Telescope Apartado 474 Santa Cruz de La PalmaE-38700 Spain Astronomical Institute Osaka Kyoiku University 4-698 Asahigaoka Kashiwara Osaka582-8582 Japan Dark Sky Observatory Department of Physics and Astronomy Appalachian State University BooneNC28608 United States Max-Planck-Institut für Radioastronomie Auf dem Hügel 69 BonnD-53121 Germany Physics Department University of Perugia via A. Pascoli Perugia06123 Italy Astronomical Observatory of Taras Shevshenko National University of Kyiv Observatorna str. 3 Kyiv04053 Ukraine Institute for Astronomy Astrophysics Space Applications and Remote Sensing National Observatory of Athens Metaxa & Vas. Pavlou St. Penteli AthensGR-15236 Greece BAA Variable Star Section West Challow Observatory OX12 9TX United Kingdom P.O. Box 03004 GranadaE-18080 Spain Aritz Bidea No 8 4B Mungia Bizkaia 48100 Spain Asturias Valdés 33780 Spain Section of Astrophysics Astronomy and Mechanics Department of Physics National and Kapodistrian University of Athens Zografos AthensGR-15784 Greece ICAMER Observatory of NASU 27 Acad. Zabolotnoho str. Kyiv03143 Ukraine Max Planck Institute for Astronomy Koenigstuhl 17 Heidelberg D-69117 Germany Dept. of Physics Earth Science and Space System Engineering Morehe

OJ 287 is a BL Lacertae type quasar in which the active galactic nucleus (AGN) outshines the host galaxy by an order of magnitude. The only exception to this may be at minimum light when the AGN activity is so low that the host galaxy may make quite a considerable contribution to the photometric intensity of the source. Such a dip or a fade in the intensity of OJ 287 occurred in November 2017, when its brightness was about 1.75 magnitudes lower than the recent mean level. We compare the observations of this fade with similar fades in OJ 287 observed earlier in 1989, 1999, and 2010. It appears that there is a relatively strong reddening of the B−V colours of OJ 287 when its V-band brightness drops below magnitude 17. Similar changes are also seen V−R, V−I, and R−I colours during these deep fades. These data support the conclusion that the total magnitude of the host galaxy is V = 18.0 ± 0.3, corresponding to MK = −26.5 ± 0.3 in the K-band. This is in agreement with the results, obtained using the integrated surface brightness method, from recent surface photometry of the host. These results should encourage us to use the colour separation method also in other host galaxies with strongly variable AGN nuclei. In the case of OJ 287, both the host galaxy and its central black hole are among the biggest known, and its position in the black hole mass-galaxy mass diagram lies close to the mean correlation. © 2022, CC BY.

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