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Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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science 2020年第6523期370卷 000-000页

作者： Warren, Wesley C. Harris, R. Alan Haukness, Marina Fiddes, Ian T. Murali, Shwetha C. Fernandes, Jason Dishuck, Philip C. Storer, Jessica M. Raveendran, Muthuswamy Hillier, LaDeana W. Porubsky, David Mao, Yafei Gordon, David Vollger, Mitchell R. Lewis, Alexandra P. Munson, Katherine M. DeVogelaere, Elizabeth Armstrong, Joel Diekhans, Mark Walker, Jerilyn A. Tomlinson, Chad Graves-Lindsay, Tina A. Kremitzki, Milinn Salama, Sofie R. Audano, Peter A. Escalona, Merly Maurer, Nicholas W. Antonacci, Francesca Mercuri, Ludovica Maggiolini, Flavia A. M. Catacchio, Claudia Rita Underwood, Jason G. O'Connor, David H. Sanders, Ashley D. Korbel, Jan O. Ferguson, Betsy Kubisch, H. Michael Picker, Louis Kalin, Ned H. Rosene, Douglas Levine, Jon Abbott, David H. Gray, Stanton B. Sanchez, Mar M. Kovacs-Balint, Zsofia A. Kemnitz, Joseph W. Thomasy, Sara M. Roberts, Jeffrey A. Kinnally, Erin L. Capitanio, John P. Skene, J. H. Pate Platt, Michael Cole, Shelley A. Green, Richard E. Ventura, Mario Wiseman, Roger W. Paten, Benedict Batzer, Mark A. Rogers, Jeffrey Eichler, Evan E. Department of Animal Sciences Bond Life Sciences Center University of Missouri Columbia MO 65211 USA. Department of Surgery School of Medicine University of Missouri Columbia MO 65211 USA. Institute of Data Science and Informatics University of Missouri Columbia MO 65211 USA. Human Genome Sequencing Center Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Computational Genomics Laboratory University of California-Santa Cruz Santa Cruz CA 95064 USA. Inscripta Inc. Boulder CO 80301 USA. Department of Genome Sciences University of Washington Seattle WA 98195 USA. Howard Hughes Medical Institute University of Washington Seattle WA 98195 USA. Department of Biomolecular Engineering University of California-Santa Cruz Santa Cruz CA 95064 USA. Department of Biological Sciences Louisiana State University Baton Rouge LA 70803 USA. Institue for Systems Biology Seattle WA 98109 USA. McDonnell Genome Institute Washington University St. Louis MO 63108 USA. Department of Biology University of Bari ’Aldo Moro’ 70125 Bari Italy. Pacific Biosciences of California Seattle WA 94025 USA. Department of Pathology and Laboratory Medicine Wisconsin National Primate Research Center University of Wisconsin-Madison Madison WI 53711 USA. European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany. Division of Genetics Oregon National Primate Research Center Oregon Health and Science University Beaverton OR 97006 USA. Tulane National Primate Research Center Covington LA 70433 USA. Oregon National Primate Research Center and Vaccine and Gene Therapy Institute Oregon Health Sciences University Beaverton OR 97006 USA. Department of Psychiatry University of Wisconsin School of Medicine and Public Health Madison WI 53719 USA. Department of Anatomy and Neurobiology Boston University School of Medicine Boston MA 02118 USA. Department of Neuroscience University of Wisconsin Madison WI 53175 USA. Wisconsin N

The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

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Author Correction: A global biodiversity observing system to unite monitoring and guide action

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Nature ecology & evolution 2023年第12期7卷 2173页

作者： Andrew Gonzalez Petteri Vihervaara Patricia Balvanera Amanda E Bates Elisa Bayraktarov Peter J Bellingham Andreas Bruder Jillian Campbell Michael D Catchen Jeannine Cavender-Bares Jonathan Chase Nicholas Coops Mark J Costello Bálint Czúcz Aurélie Delavaud Maria Dornelas Grégoire Dubois Emmett J Duffy Hilde Eggermont Miguel Fernandez Nestor Fernandez Simon Ferrier Gary N Geller Michael Gill Dominique Gravel Carlos A Guerra Robert Guralnick Michael Harfoot Tim Hirsch Sean Hoban Alice C Hughes Wim Hugo Margaret E Hunter Forest Isbell Walter Jetz Norbert Juergens W Daniel Kissling Cornelia B Krug Peter Kullberg Yvan Le Bras Brian Leung Maria Cecilia Londoño-Murcia Jean-Michel Lord Michel Loreau Amy Luers Keping Ma Anna J MacDonald Joachim Maes Melodie McGeoch Jean Baptiste Mihoub Katie L Millette Zsolt Molnar Enrique Montes Akira S Mori Frank E Muller-Karger Hiroyuki Muraoka Masahiro Nakaoka Laetitia Navarro Tim Newbold Aidin Niamir David Obura Mary O'Connor Marc Paganini Dominique Pelletier Henrique Pereira Timothée Poisot Laura J Pollock Andy Purvis Adriana Radulovici Duccio Rocchini Claudia Roeoesli Michael Schaepman Gabriela Schaepman-Strub Dirk S Schmeller Ute Schmiedel Fabian D Schneider Mangal Man Shakya Andrew Skidmore Andrew L Skowno Yayioi Takeuchi Mao-Ning Tuanmu Eren Turak Woody Turner Mark C Urban Nicolás Urbina-Cardona Ruben Valbuena Anton Van de Putte Basile van Havre Vladimir Ruslan Wingate Elaine Wright Carlos Zambrana Torrelio Department of Biology Group on Earth Observations Biodiversity Observation Network McGill University Montreal Quebec Canada. andrew.gonzalez@mcgill.ca. Finnish Environment Institute Helsinki Finland. Instituto de Investigaciones en Ecosistemas y Sustentabilidad (IIES) Universidad Nacional Autónoma de México Morelia Mexico. Biology Department University of Victoria Victoria British Columbia Canada. EcoCommons Australia Research Specialised and Data Foundations Griffith University Nathan Queensland Australia. Manaaki Whenua - Landcare Research Lincoln New Zealand. Institute of Microbiology University of Applied Sciences and Arts of Southern Switzerland Mendrisio Switzerland. Secretariat of the Convention on Biological Diversity Montreal Quebec Canada. Department of Biology Group on Earth Observations Biodiversity Observation Network McGill University Montreal Quebec Canada. Department of Ecology Evolution and Behavior University of Minnesota Saint Paul MN USA. German Centre for Integrative Biodiversity Research (iDiv) Halle-Jena-Leipzig Halle Germany. Department of Computer Sciences Martin Luther University Halle-Wittenberg Halle Germany. University of British Columbia Vancouver British Columbia Canada. Faculty of Biosciences and Aquaculture Nord Universitet Bodø Norway. Norwegian Institute for Nature Research (NINA) Trondheim Norway. Fondation for Research on Biodiversity (FRB) Paris France. Centre for Biological Diversity University of St Andrews St Andrews UK. Guia Marine Lab MARE Faculdade de Ciências da Universidade de Lisboa Cascais Portugal. Knowledge Centre for Biodiversity Joint Research Centre of the European Commission Ispra Italy. Tennenbaum Marine Observatories Network and MarineGEO program Smithsonian Environmental Research Center Edgewater MD USA. Belgian Science Policy Office Belgian Biodiversity Platform/Biodiversa+ Brussels Belgium. German Centre for Integrative Biodiversity Research (iDiv) Halle-Jena-Leipzig Leipzig Germany.

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Psychometric properties of the Alcohol Use Disorders Identification Test (AUDIT) across cross-cultural subgroups, genders, and sexual orientations: Findings from the International Sex Survey (ISS)

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Comprehensive Psychiatry 2023年 127卷 152427页

作者： Horváth, Zsolt Nagy, Léna Koós, Mónika Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Briken, Peer Burkauskas, Julius Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita Fernandez, David P. Fujiwara, Hironobu Fernandez, Elaine F. Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha C. Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lin, Chung-Ying Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Quintero Garzola, Gabriel C. Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Tsai, Meng-Che Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Connecticut Mental Health Center New Haven CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Institute for Sex Research Sexual Medicine and Forensic Psychiatry University Medical Centre Hamburg-Eppendorf Hamburg Germany Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Palanga Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceutical and Biological Sciences University of Hertfordshire United Kingdom Department of Psychocology and Cognitive Science University of Trento Italy Department of Psychology and Neuroscience Auckland University of Technology Auc

Introduction: Despite being a widely used screening questionnaire, there is no consensus on the most appropriate measurement model for the Alcohol Use Disorders Identification Test (AUDIT). Furthermore, there have been limited studies on its measurement invariance across cross-cultural subgroups, genders, and sexual orientations. Aims: The present study aimed to examine the fit of different measurement models for the AUDIT and its measurement invariance across a wide range of subgroups by country, language, gender, and sexual orientation. Methods: Responses concerning past-year alcohol use from the participants of the cross-sectional International Sex Survey were considered (N = 62,943;M_age: 32.73;SD = 12.59). Confirmatory factor analysis, as well as measurement invariance tests were performed for 21 countries, 14 languages, three genders, and four sexual-orientation subgroups that met the minimum sample size requirement for inclusion in these analyses. Results: A two-factor model with factors describing ‘alcohol use’ (items 1–3) and ‘alcohol problems’ (items 4–10) showed the best model fit across countries, languages, genders, and sexual orientations. For the former two, scalar and latent mean levels of invariance were reached considering different criteria. For gender and sexual orientation, a latent mean level of invariance was reached. Conclusions: In line with the two-factor model, the calculation of separate alcohol-use and alcohol-problem scores is recommended when using the AUDIT. The high levels of measurement invariance achieved for the AUDIT support its use in cross-cultural research, capable also of meaningful comparisons among genders and sexual orientations. © 2023

关键词： Addictive behaviors Alcohol Use Disorders Identification Test (AUDIT) Cross-cultural comparison Gender LGBTQ Measurement invariance Sexual orientation

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Author Correction: A high-resolution HLA reference panel capturing global population diversity enables multi-ancestry fine-mapping in HIV host response

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Nature genetics 2021年第12期53卷 1722页

作者： Yang Luo Masahiro Kanai Wanson Choi Xinyi Li Saori Sakaue Kenichi Yamamoto Kotaro Ogawa Maria Gutierrez-Arcelus Peter K Gregersen Philip E Stuart James T Elder Lukas Forer Sebastian Schönherr Christian Fuchsberger Albert V Smith Jacques Fellay Mary Carrington David W Haas Xiuqing Guo Nicholette D Palmer Yii-Der Ida Chen Jerome I Rotter Kent D Taylor Stephen S Rich Adolfo Correa James G Wilson Sekar Kathiresan Michael H Cho Andres Metspalu Tonu Esko Yukinori Okada Buhm Han Paul J McLaren Soumya Raychaudhuri Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. yangluo@***. Division of Rheumatology Immunology and Immunity Brigham and Women's Hospital Harvard Medical School Boston MA USA. yangluo@***. Division of Genetics Brigham and Women's Hospital Harvard Medical School Boston MA USA. yangluo@***. Department of Biomedical Informatics Harvard Medical School Boston MA USA. yangluo@***. Broad Institute of MIT and Harvard Cambridge MA USA. yangluo@***. Department of Biomedical Informatics Harvard Medical School Boston MA USA. Broad Institute of MIT and Harvard Cambridge MA USA. Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA. Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Department of Biomedical Sciences Seoul National University College of Medicine Seoul South Korea. Committee on Genetics Genomics and Systems Biology University of Chicago Chicago IL USA. Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. Division of Rheumatology Immunology and Immunity Brigham and Women's Hospital Harvard Medical School Boston MA USA. Division of Genetics Brigham and Women's Hospital Harvard Medical School Boston MA USA. Department of Pediatrics Osaka University Graduate School of Medicine Osaka Japan. Department of Neurology Osaka University Graduate School of Medicine Osaka Japan. The Robert S. Boas Center for Genomics and Human Genetics Feinstein Institute for Medical ResearchNorth Short LIJ Health System Manhasset NY USA. Department of Dermatology University of Michigan Ann Arbor MI USA. Ann Arbor Veterans Affairs Hospital Ann Arbor MI USA. Institute of Genetic Epidemiology Department of Genetics and Pharmacology Medical University of Innsbruck Innsbruck Austria. Department of Biostatistics

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Author Correction: Federated learning enables big data for rare cancer boundary detection

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Nature communications 2023年第1期14卷 436页

作者： Sarthak Pati Ujjwal Baid Brandon Edwards Micah Sheller Shih-Han Wang G Anthony Reina Patrick Foley Alexey Gruzdev Deepthi Karkada Christos Davatzikos Chiharu Sako Satyam Ghodasara Michel Bilello Suyash Mohan Philipp Vollmuth Gianluca Brugnara Chandrakanth J Preetha Felix Sahm Klaus Maier-Hein Maximilian Zenk Martin Bendszus Wolfgang Wick Evan Calabrese Jeffrey Rudie Javier Villanueva-Meyer Soonmee Cha Madhura Ingalhalikar Manali Jadhav Umang Pandey Jitender Saini John Garrett Matthew Larson Robert Jeraj Stuart Currie Russell Frood Kavi Fatania Raymond Y Huang Ken Chang Carmen Balaña Jaume Capellades Josep Puig Johannes Trenkler Josef Pichler Georg Necker Andreas Haunschmidt Stephan Meckel Gaurav Shukla Spencer Liem Gregory S Alexander Joseph Lombardo Joshua D Palmer Adam E Flanders Adam P Dicker Haris I Sair Craig K Jones Archana Venkataraman Meirui Jiang Tiffany Y So Cheng Chen Pheng Ann Heng Qi Dou Michal Kozubek Filip Lux Jan Michálek Petr Matula Miloš Keřkovský Tereza Kopřivová Marek Dostál Václav Vybíhal Michael A Vogelbaum J Ross Mitchell Joaquim Farinhas Joseph A Maldjian Chandan Ganesh Bangalore Yogananda Marco C Pinho Divya Reddy James Holcomb Benjamin C Wagner Benjamin M Ellingson Timothy F Cloughesy Catalina Raymond Talia Oughourlian Akifumi Hagiwara Chencai Wang Minh-Son To Sargam Bhardwaj Chee Chong Marc Agzarian Alexandre Xavier Falcão Samuel B Martins Bernardo C A Teixeira Flávia Sprenger David Menotti Diego R Lucio Pamela LaMontagne Daniel Marcus Benedikt Wiestler Florian Kofler Ivan Ezhov Marie Metz Rajan Jain Matthew Lee Yvonne W Lui Richard McKinley Johannes Slotboom Piotr Radojewski Raphael Meier Roland Wiest Derrick Murcia Eric Fu Rourke Haas John Thompson David Ryan Ormond Chaitra Badve Andrew E Sloan Vachan Vadmal Kristin Waite Rivka R Colen Linmin Pei Murat Ak Ashok Srinivasan J Rajiv Bapuraj Arvind Rao Nicholas Wang Ota Yoshiaki Toshio Moritani Sevcan Turk Joonsang Lee Snehal Prabhudesai Fanny Morón Jacob Mandel Konstantinos Kamnitsas Ben Glocker Luke V M Dixon Matthew Williams Peter Zamp Center for Biomedical Image Computing and Analytics (CBICA) University of Pennsylvania Philadelphia PA USA. Department of Radiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Informatics Technical University of Munich Munich Bavaria Germany. Intel Corporation Santa Clara CA USA. Department of Neuroradiology Heidelberg University Hospital Heidelberg Germany. Clinical Cooperation Unit Neuropathology German Cancer Consortium (DKTK) within the German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Neuropathology Heidelberg University Hospital Heidelberg Germany. Division of Medical Image Computing German Cancer Research Center Heidelberg Germany. Pattern Analysis and Learning Group Department of Radiation Oncology Heidelberg University Hospital Heidelberg Germany. Neurology Clinic Heidelberg University Hospital Heidelberg Germany. Department of Radiology & Biomedical Imaging University of California San Francisco San Francisco CA USA. Symbiosis Center for Medical Image Analysis Symbiosis International University Pune Maharashtra India. Department of Neuroimaging and Interventional Radiology National Institute of Mental Health and Neurosciences Bangalore Karnataka India. Department of Radiology School of Medicine and Public Health University of Wisconsin Madison WI USA. Department of Medical Physics School of Medicine and Public Health University of Wisconsin Madison WI USA. Leeds Teaching Hospitals Trust Department of Radiology Leeds UK. Department of Radiology Brigham and Women's Hospital Harvard Medical School Boston MA USA. Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital Charlestown MA USA. Catalan Institute of Oncology Badalona Spain. Consorci MAR Parc de Salut de Barcelona Catalonia Spain. Department of Radiology (IDI

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Correction: Obesity and brain structure in schizophrenia - ENIGMA study in 3021 individuals

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Molecular psychiatry 2024年第1期29卷 56页

作者： Sean R McWhinney Katharina Brosch Vince D Calhoun Benedicto Crespo-Facorro Nicolas A Crossley Udo Dannlowski Erin Dickie Lorielle M F Dietze Gary Donohoe Stefan Du Plessis Stefan Ehrlich Robin Emsley Petra Furstova David C Glahn Alfonso Gonzalez-Valderrama Dominik Grotegerd Laurena Holleran Tilo T J Kircher Pavel Knytl Marian Kolenic Rebekka Lencer Igor Nenadić Nils Opel Julia-Katharina Pfarr Amanda L Rodrigue Kelly Rootes-Murdy Alex J Ross Kang Sim Antonín Škoch Filip Spaniel Frederike Stein Patrik Švancer Diana Tordesillas-Gutiérrez Juan Undurraga Javier Vázquez-Bourgon Aristotle Voineskos Esther Walton Thomas W Weickert Cynthia Shannon Weickert Paul M Thompson Theo G M van Erp Jessica A Turner Tomas Hajek Department of Psychiatry Dalhousie University Halifax NS Canada. Department of Psychiatry and Psychotherapy Philipps-University Marburg Marburg Germany. Tri-institutional Center for Translational Research in Neuroimaging and Data Science (TReNDS) Georgia State Georgia Tech Emory University Atlanta GA USA. Centro de Investigación Biomédica en Red de Salud Mental (CIBERSAM) Madrid Spain. IBiS University Hospital Virgen del Rocio Sevilla Spain. Department of Psychiatry School of Medicine University of Sevilla Sevilla Spain. Department of Psychiatry School of Medicina Pontificia Universidad Católica de Chile Santiago Chile. Department of Psychosis Studies King's College London London UK. Institute for Translational Psychiatry University of Münster Münster Germany. Centre for Addiction & Mental Health Department of Psychiatry University of Toronto Toronto ON Canada. Centre for Neuroimaging & Cognitive Genomics (NICOG) Clinical Neuroimaging Laboratory NCBES Galway Neuroscience Centre College of Medicine Nursing and Health Sciences National University of Ireland Galway Galway Ireland. Department of Psychiatry Faculty of Medicine and Health Sciences Stellenbosch University Cape Town South Africa. SAMRC Genomics of Brain Disorders Unit Cape Town South Africa. Translational Developmental Neuroscience Section Division of Psychological and Social Medicine and Developmental Neurosciences Faculty of Medicine TU Dresden Dresden Germany. National Institute of Mental Health Klecany Czech Republic. Department of Psychiatry & Behavioral Sciences Boston Children's Hospital Boston MA USA. Department of Psychiatry Harvard Medical School Boston MA USA. Olin Neuropsychiatry Research Center Institute of Living Hartford CT USA. School of Medicine Universidad Finis Terrae Santiago Chile. Early Intervention in Psychosis Program Instituto Psiquiátrico 'Dr. José Horwitz B.' Santiago Chile. Charles University Third Faculty of Medicine Prague Czech Republic. Department

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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On the combination of two visual cognition systems using combinatorial fusion

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Brain informatics 2015年第1期2卷 21-32页

作者： Batallones, Amy Sanchez, Kilby Mott, Brian Coffran, Cameron Frank Hsu, D. Laboratory of Informatics and Data Mining Department of Computer and Information Science Fordham University New YorkNY United States Program for the Human Environment The Rockefeller University New YorkNY United States

When combining decisions made by two separate visual cognition systems, statistical means such as simple average (M1) and weighted average (M2 and M3), incorporating the confidence level of each of these systems have been used. Although combination using these means can improve each of the individual systems, it is not known when and why this can happen. By extending a visual cognition system to become a scoring system based on each of the statistical means M1, M2, and M3 respectively, the problem of combining visual cognition systems is transformed to the problem of combining multiple scoring systems. In this paper, we examine the combined results in terms of performance and diversity using combinatorial fusion, and study the issue of when and why a combined system can be better than individual systems. A data set from an experiment with twelve trials is analyzed. The findings demonstrated that combination of two visual cognition systems, based on weighted means M2 or M3, can improve each of the individual systems only when both of them have relatively good performance and they are diverse. © 2015, The Author(s).

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