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Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses

Nature Medicine 2025年 1-2页

作者： Steven Laurie Ida Paramonov Gemma Bullich Marcos Fernandez-Callejo Hanns Lochmüller Davide Piscia Luca Zalatnai Sergi Beltran Leslie Matalonga Wouter Steyaert Elke de Boer Erik-Jan Kamsteeg Tjitske Kleefstra Rolph Pfundt Karolis Šablauskas Iris B. A. W. te Paske Jeroen van Reeuwijk Janet Vos Robin Wijngaard Burcu Yaldiz Richarda M. de Voer Nicoline Hoogerbrugge Lisenka E.L.M. Vissers Christian Gilissen Han G. Brunner Alexander Hoischen Bart van de Warrenburg Kiran Polavarapu Rachel Thompson Nika Schuermans Anna K. Sommer Stefan Aretz Sophia Peters German Demidov Kornelia Ellwanger Tobias B. Haack Leon Schütz Marc Sturm Jishu Xu Birte Zurek Olaf Riess Holm Graessner Stephan Ossowski Coline Thomas Mallory Freeberg Jonathan Baets Liedewei Van de Vondel Elisa Benetti Alessandra Renieri Patrick F. Chinnery Rita Horvath Catarina Olimpio Jill Clayton-Smith Adam Jackson Enzo Cohen Isabelle Nelson Teresinha Evangelista Daniel Danis Jean-Madeleine de Sainte Agathe Anne-Sophie Denommé-Pichon Laurence Faivre Antonio Vitobello Jordi Diaz-Manera Volker Straub Christina Trainor Ana Töpf Stephanie Efthymiou Henry Houlden Heba Morsy Jana Vandrovcova José Garcia-Pelaez Carla Oliveira Lena Guillot-Noel Giovanni Stevanin Mike Hanna Holger Hengel Melanie Kellner Selina Reich Ludger Schöls Carlo Wilke Rebecca Schüle Matthis Synofzik Lennart Johansson Morris A. Swertz Mridul Johari Marco Savarese Bjarne Udd Didier Lacombe Estrella López-Martín Manuel Posada Alfons Macaya Anna Marcé-Grau Aleš Maver Borut Peterlin Francesco Muntoni Francesco Musacchia Vincenzo Nigro Giulio Piluso Annalaura Torella Jaroslava Paulasová Schwabová Martje G. Pauly Katja Lohmann Lukas Ryba Emílie Vyhnálková Verena Steinke-Lange Marco Tartaglia Doreen William Anthony J. Brookes Alain Verloes Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain Universitat de Barcelona (UB) Barcelona Spain Children’s Hospital of Eastern Ontario Research Institute University of Ottawa Ottawa Ontario Canada Department of Neuropediatrics and Muscle Disorders Medical Center Faculty of Medicine University of Freiburg Freiburg Germany Division of Neurology Department of Medicine The Ottawa Hospital Ottawa Ontario Canada Brain and Mind Research Institute University of Ottawa Ottawa Ontario Canada Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Department of Human Genetics Radboud University Medical Center Nijmegen the Netherlands Radboud Institute for Medical Innovation Nijmegen the Netherlands Donders Institute for Brain Cognition and Behaviour Radboud University Medical Center Nijmegen the Netherlands Department of Clinical Genetics Erasmus MC Rotterdam the Netherlands Center of Excellence for Neuropsychiatry Vincent van Gogh Institute for Psychiatry Venray the Netherlands Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Department of Clinical Genetics Maastricht University Medical Centre and GROW School for Development and Oncology University of Maastricht Maastricht the Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen the Netherlands Department of Neurology Radboud University Medical Center Nijmegen the Netherlands Program for Undiagnosed Rare Diseases (UD-PrOZA) Ghent University Hospital Ghent Belgium Department of Biomolecular Medicine Faculty of Medicine and Health Sciences Ghent University Ghent Belgium Center for Medical Genetics Ghent University Hospital Ghent Belgium Institute of Human Genetics Medical Faculty University of Bonn Bonn Germany Center for Hereditary Tumor Syndromes University Hospital Bonn Bonn Germany Institute of Medical Geneti

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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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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 1-24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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Worldwide Soundscapes: A Synthesis of Passive Acoustic Monitoring Across Realms

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Global Ecology and Biogeography 2025年第5期34卷

作者： Kevin F. A. Darras Rodney A. Rountree Steven L. Van Wilgenburg Anna F. Cord Frederik Pitz Youfang Chen Lijun Dong Agnès Rocquencourt Camille Desjonquères Patrick Mauritz Diaz Tzu-Hao Lin Théophile Turco Louise Emmerson Tom Bradfer-Lawrence Amandine Gasc Sarah Marley Marcus Salton Laura Schillé Paul J. Wensveen Shih-Hung Wu Adriana C. Acero-Murcia Orlando Acevedo-Charry Matyáš Adam Jacopo Aguzzi Irmak Akoglu M. Clara P. Amorim Mina Anders Michel André Alexandre Antonelli Leandro Aparecido Do Nascimento Giulliana Appel Stephanie Archer Christos Astaras Andrey Atemasov Jamieson Atkinson Joël Attia Emanuel Baltag Luc Barbaro Fritjof Basan Carly Batist Julio Ernesto Baumgarten Just T. Bayle Sempere Kristen Bellisario Asaf Ben David Oded Berger-Tal Frédéric Bertucci Matthew G. Betts Iqbal S. Bhalla Thiago Bicudo Marta Bolgan Sara Bombaci Gerard Bota Martin Boullhesen Robert A. Briers Susannah Buchan Michal Budka Katie Burchard Giuseppa Buscaino Alice Calvente Marconi Campos-Cerqueira Maria Isabel Carvalho Gonçalves Maria Ceraulo Maite Cerezo-Araujo Gunnar Cerwén Adams A. Chaskda Maria Chistopolova Christopher W. Clark Kieran D. Cox Benjamin Cretois Chapin Czarnecki Luis P. da Silva Wigna da Silva Laurence H. De Clippele David de la Haye Ana Silvia de Oliveira Tissiani Devin de Zwaan M. Eugenia Degano Jessica Deichmann Joaquin del Rio Christian Devenish Ricardo Díaz-Delgado Pedro Diniz Dorgival Diógenes Oliveira-Júnior Thiago Dorigo Saskia Dröge Marina Duarte Adam Duarte Kerry Dunleavy Robert Dziak Simon Elise Hiroto Enari Haruka S. Enari Florence Erbs Britas Klemens Eriksson Pınar Ertör-Akyazi Nina C. Ferrari Luane Ferreira Abram B. Fleishman Paulo J. Fonseca Bárbara Freitas Nicholas R. Friedman Jérémy S. P. Froidevaux Svetlana Gogoleva Carolina Gonzaga José Miguel González Correa Eben Goodale Benjamin Gottesman Ingo Grass Jack Greenhalgh Jocelyn Gregoire Samuel Haché Jonas Hagge William Halliday Antonia Hammer Tara Hanf-Dressler Sylvain Haupert Samara Haver Becky Heath Daniel Hending Jose Hernandez-Blanco Dennis Higgs EFNO ECODIV INRAE Domaine des Barres Nogent-sur-Vernisson France Sustainable Agricultural Systems & Engineering Lab School of Engineering Westlake University Hangzhou Zhejiang China Chair of Computational Landscape Ecology Faculty of Environmental Sciences Dresden University of Technology Dresden Germany Biology Department University of Victoria Victoria British Columbia Canada The Fish Listener Waguoit Massachusetts USA Terrestrial Unit Prairie Region Canadian Wildlife Service Environment & Climate Change Canada Prairie & Northern Wildlife Research Centre Saskatoon Saskatchewan Canada Agro-ecological Modeling Group Faculty of Agriculture University of Bonn Bonn Germany Marine Mammal and Marine Bioacoustics Laboratory Department of Deep Sea Science Institute of Deep-sea Science and Engineering Chinese Academy of Sciences Sanya Hainan China Institut de Systématique Évolution Biodiversité Muséum National d’Histoire Naturelle Paris France Université Grenoble Alpes Université Savoie Mont Blanc CNRS LECA Grenoble France Climate Change and Biodiversity Hanns R. Neumann Stiftung Indonesia Muaradua Indonesia Biodiversity Research Center Academia Sinica Nankang Taipei Taiwan ENES Bioacoustics Research Laboratory University of Saint-Etienne CRNL CNRS UMR 5292 Inserm UMR_S 1028 Saint-Etienne France Australian Antarctic Division Science Branch Department of Climate Change Energy Environment and Water Channel Highway Kingston Tasmania Australia Biological and Environmental Sciences University of Stirling Stirling Scotland Centre for Conservation Science RSPB Edinburgh UK IMBE Aix Marseille Univ Avignon Univ CNRS IRD Aix-en-Provence France Scotland's Rural College Craibstone Estate Aberdeen UK BIOGECO INRAE University of Bordeaux Cestas France Westman Islands Research Centre University of Iceland Vestmannaeyjar Iceland Qigu Research Center Taiwan Biodiversity Research Institute Nantou County Taiwan Programa de Pós-graduação em Ecologia

Aim The urgency for remote, reliable and scalable biodiversity monitoring amidst mounting human pressures on ecosystems has sparked worldwide interest in Passive Acoustic Monitoring (PAM), which can track life underwater and on land. However, we lack a unified methodology to report this sampling effort and a comprehensive overview of PAM coverage to gauge its potential as a global research and monitoring tool. To address this gap, we created the Worldwide Soundscapes project, a collaborative network and growing database comprising metadata from 416 datasets across all realms (terrestrial, marine, freshwater and subterranean). Location Worldwide, 12,343 sites, all ecosystem types. Time Period 1991 to present. Major Taxa Studied All soniferous taxa. Methods We synthesise sampling coverage across spatial, temporal and ecological scales using metadata describing sampling locations, deployment schedules, focal taxa and audio recording parameters. We explore global trends in biological, anthropogenic and geophysical sounds based on 168 selected recordings from 12 ecosystems across all realms. Results Terrestrial sampling is spatially denser (46 sites per million square kilometre—Mkm 2 ) than aquatic sampling (0.3 and 1.8 sites/Mkm 2 in oceans and fresh water) with only two subterranean datasets. Although diel and lunar cycles are well sampled across realms, only marine datasets (55%) comprehensively sample all seasons. Across the 12 ecosystems selected for exploring global acoustic trends, biological sounds showed contrasting diel patterns across ecosystems, declined with distance from the Equator, and were negatively correlated with anthropogenic sounds. Main Conclusions PAM can inform macroecological studies as well as global conservation and phenology syntheses, but representation can be improved by expanding terrestrial taxonomic scope, sampling coverage in the high seas and subterranean ecosystems, and spatio-temporal replication in freshwater habitats. Overall, this

关键词： ARU automated sound recorder biodiversity conservation biology ecoacoustics IUCN GET realm Passive Acoustic Monitoring phenology soundscape ecology

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SciPy 1.0—Fundamental algorithms for scientific computing in python

arXiv

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arXiv 2019年

作者： Virtanen, Pauli Gommers, Ralf Oliphant, Travis E. Haberland, Matt Reddy, Tyler Cournapeau, David Burovski, Evgeni Peterson, Pearu Weckesser, Warren Bright, Jonathan van der Walt, Stéfan J. Brett, Matthew Wilson, Joshua Millman, K. Jarrod Mayorov, Nikolay Nelson, Andrew R.J. Jones, Eric Kern, Robert Larson, Eric Carey, C.J. Polat, Ilhan Feng, Yu Moore, Eric W. VanderPlas, Jake Laxalde, Denis Perktold, Josef Cimrman, Robert Henriksen, Ian Quintero, E.A. Harris, Charles R. Archibald, Anne M. Ribeiro, Antônio H. Pedregosa, Fabian van Mulbregt, Paul University of Jyväskylä University of Jyväskylä FI-40014 Finland Quansight LLC AustinTX United States Ultrasound Imaging Mayo Clinic RochesterMN55902 United States Electrical Engineering Brigham Young University ProvoUT84604 United States Enthought Inc. AustinTX78701 United States Anaconda Inc AustinTX78701 United States BioResource and Agricultural Engineering Department California Polytechnic State University San Luis ObispoCA93407 United States Department of Mathematics University of California Los AngelesCA90025 United States Los Alamos National Laboratory Los AlamosNM87544 United States Independent Researcher Higher School of Economics Myasnitskaya 20 Moscow101000 Russia Independent Researcher Saue Estonia Department of Mechanics and Applied Mathematics Institute of Cybernetics Tallinn Technical University Akadeemia Rd 21 Tallinn Estonia Independent Researcher NY United States Berkeley Institute for Data Science University of California BerkeleyCA94720 United States School of Psychology University of Birmingham Edgbaston BirmighamB15 2TT United Kingdom Division of Biostatistics University of California BerkeleyCA94720 United States WayRay LLC Skolkovo Innovation Center Moscow143026 Russia Australian Nuclear Science and Technology Organisation Locked Bag 2001 Kirrawee DCNSW2232 Australia Institute for Learning and Brain Sciences University of Washington SeattleWA98195 United States College of Information and Computing Sciences University of Massachusetts Amherst AmherstMA01002 United States Berkeley Center for Cosmological Physics University of California BerkeleyCA94720 United States Bruker Biospin Corp. 15 Fortune Drive BillericaMA01821 United States University of Washington SeattleWA98195 United States New Technologies - Research Centre University of West Bohemia Univerzitní 8 Plzeň306 14 Czech Republic Oden Institute for Computational Engineering and Sciences University of Texas at Austin AustinTX7

SciPy is an open source scientific computing library for the Python programming language. SciPy 1.0 was released in late 2017, about 16 years after the original version 0.1 release. SciPy has become a de facto standard for leveraging scientific algorithms in the Python programming language, with more than 600 unique code contributors, thousands of dependent packages, over 100,000 dependent repositories, and millions of downloads per year. This includes usage of SciPy in almost half of all machine learning projects on GitHub, and usage by high profile projects including LIGO gravitational wave analysis and creation of the first-ever image of a black hole (M87). The library includes functionality spanning clustering, Fourier transforms, integration, interpolation, file I/O, linear algebra, image processing, orthogonal distance regression, minimization algorithms, signal processing, sparse matrix handling, computational geometry, and statistics. In this work, we provide an overview of the capabilities and development practices of the SciPy library and highlight some recent technical developments. Copyright © 2019, The Authors. All rights reserved.

关键词： Open source software

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Author Correction: Genome-wide association and epidemiological analyses reveal common genetic origins between uterine leiomyomata and endometriosis

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Nature communications 2022年第1期13卷 5543页

作者： C S Gallagher N Mäkinen H R Harris N Rahmioglu O Uimari J P Cook N Shigesi T Ferreira D R Velez-Edwards T L Edwards S Mortlock Z Ruhioglu F Day C M Becker V Karhunen H Martikainen M-R Järvelin R M Cantor P M Ridker K L Terry J E Buring S D Gordon S E Medland G W Montgomery D R Nyholt D A Hinds J Y Tung J R B Perry P A Lind J N Painter N G Martin A P Morris D I Chasman S A Missmer K T Zondervan C C Morton Department of Genetics Harvard Medical School Boston MA 02115 USA. Department of Obstetrics and Gynecology Brigham and Women's Hospital Harvard Medical School Boston MA 02115 USA. netta_makinen@dfci.harvard.edu. Program in Epidemiology Division of Public Health Sciences Fred Hutchinson Cancer Research Center Seattle WA 98109 USA. Wellcome Centre for Human Genetics University of Oxford Oxford OX3 7BN UK. Endometriosis CaRe Centre Nuffield Department of Women's and Reproductive Health University of Oxford John Radcliffe Hospital Oxford OX3 9DU UK. Department of Obstetrics and Gynecology Oulu University Hospital and PEDEGO Research Unit & Medical Research Center Oulu University of Oulu and Oulu University Hospital 90220 Oulu Finland. Department of Biostatistics University of Liverpool Liverpool L69 3GL UK. Big Data Institute Li Ka Shing Center for Health Information and Discovery Oxford University Oxford OX3 7LF UK. Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Institute for Medicine and Public Health Department of Obstetrics and Gynecology Vanderbilt University Medical Center Nashville TN 37203 USA. Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Nashville TN 37203 USA. Institute for Molecular Bioscience University of Queensland Brisbane QLD 4072 Australia. Department of Obstetrics and Gynecology Brigham and Women's Hospital Harvard Medical School Boston MA 02115 USA. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Institute of Metabolic Science Cambridge Biomedical Campus Cambridge CB2 0QQ UK. Center for Life Course Health Research Faculty of Medicine University of Oulu 90220 Oulu Finland. Unit of Primary Health Care Oulu University Hospital 90220 Oulu Finland. Department of Epidemiology and Biostatistics MRC-PHE Centre for Environment and Health School of Public Health Imperial Coll

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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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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Global investments in pandemic preparedness and COVID-19: development assistance and domestic spending on health between 1990 and 2026

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The Lancet Global Health 2023年第3期11卷 e385-e413页

作者： Micah, Angela E. Bhangdia, Kayleigh Cogswell, Ian E. Lasher, Dylan Lidral-Porter, Brendan Maddison, Emilie R. Nguyen, Trang Nhu Ngoc Patel, Nishali Pedroza, Paola Solorio, Juan Stutzman, Hayley Tsakalos, Golsum Wang, Yifeng Warriner, Wesley Zhao, Yingxi Zlavog, Bianca S. Abbafati, Cristiana Abbas, Jaffar Abbasi-Kangevari, Mohsen Abbasi-Kangevari, Zeinab Abdelmasseh, Michael Abdulah, Deldar Morad Abedi, Aidin Abegaz, Kedir Hussein Abhilash, E.S. Aboagye, Richard Gyan Abolhassani, Hassan Abrigo, Michael R.M. Abubaker Ali, Hiwa Abu-Gharbieh, Eman Adem, Mohammed Hussien Afzal, Muhammad Sohail Ahmadi, Ali Ahmed, Haroon Ahmed Rashid, Tarik Aji, Budi Akbarialiabad, Hossein Akelew, Yibeltal Al Hamad, Hanadi Alam, Khurshid Alanezi, Fahad Mashhour Alanzi, Turki M. Al-Hanawi, Mohammed Khaled Alhassan, Robert Kaba Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Ameyaw, Edward Kwabena Amini-Rarani, Mostafa Amu, Hubert Ancuceanu, Robert Andrei, Tudorel Anwar, Sumadi Lukman Appiah, Francis Aqeel, Muhammad Arabloo, Jalal Arab-Zozani, Morteza Aravkin, Aleksandr Y. Aremu, Olatunde Aruleba, Raphael Taiwo Athari, Seyyed Shamsadin Avila-Burgos, Leticia Ayanore, Martin Amogre Azari, Samad Baig, Atif Amin Bantie, Abere Tilahun Barrow, Amadou Baskaran, Pritish Basu, Sanjay Batiha, Abdul-Monim Mohammad Baune, Bernhard T. Berezvai, Zombor Bhardwaj, Nikha Bhardwaj, Pankaj Bhaskar, Sonu Boachie, Micheal Kofi Bodolica, Virginia Botelho, João Silva Botelho Braithwaite, Dejana Breitborde, Nicholas J.K. Busse, Reinhard Cahuana-Hurtado, Lucero Catalá-López, Ferrán Chansa, Collins Charan, Jaykaran Chattu, Vijay Kumar Chen, Simiao Chukwu, Isaac Sunday Dadras, Omid Dandona, Lalit Dandona, Rakhi Dargahi, Abdollah Debela, Sisay Abebe Denova-Gutiérrez, Edgar Desye, Belay Dharmaratne, Samath Dhamminda Diao, Nancy Doan, Linh Phuong Dodangeh, Milad dos Santos, Wendel Mombaque Doshmangir, Leila Dube, John Eini, Ebrahim El Sayed Zaki, Maysaa El Tantawi, Maha Enyew, Daniel Berhanie Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Applied Mathematics University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Nuffield Department of Medicine University of Oxford Oxford United Kingdom Department of Juridical and Economic Studies La Sapienza University Rome Italy Antai College of Economics Shanghai Jiao Tong University Shanghai China Non-communicable Diseases Research Center Tehran University of Medical Sciences Tehran Iran Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Center Tehran University of Medical Sciences Tehran Iran Children’s Medical Center Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Tehran Heart Center Tehran University of Medical Sciences Tehran Iran Faculty of Medicine Tehran University of Medical Sciences Tehran Iran National Institute for Health Research Tehran University of Medical Sciences Tehran Iran Department of Pharmacology Tehran University of Medical Sciences Tehran Iran Department of Cardiology Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Center Tehran University of Medical Sciences Tehran Iran Digestive Diseases Research Institute Tehran University of Medical Sciences Tehran Iran Department of Neurology Tehran University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Epidemiology Shahid Beheshti University of Medical Sciences Tehran Iran Department of Health Economics and Statistics Shahid Beheshti University of Medical Sciences Tehran Iran Department of Neurosurgery Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic R

Background: The COVID-19 pandemic highlighted gaps in health surveillance systems, disease prevention, and treatment globally. Among the many factors that might have led to these gaps is the issue of the financing of national health systems, especially in low-income and middle-income countries (LMICs), as well as a robust global system for pandemic preparedness. We aimed to provide a comparative assessment of global health spending at the onset of the pandemic;characterise the amount of development assistance for pandemic preparedness and response disbursed in the first 2 years of the COVID-19 pandemic;and examine expectations for future health spending and put into context the expected need for investment in pandemic preparedness. Methods: In this analysis of global health spending between 1990 and 2021, and prediction from 2021 to 2026, we estimated four sources of health spending: development assistance for health (DAH), government spending, out-of-pocket spending, and prepaid private spending across 204 countries and territories. We used the Organisation for Economic Co-operation and Development (OECD)'s Creditor Reporting System (CRS) and the WHO Global Health Expenditure database (GHED) to estimate spending. We estimated development assistance for general health, COVID-19 response, and pandemic preparedness and response using a keyword search. Health spending estimates were combined with estimates of resources needed for pandemic prevention and preparedness to analyse future health spending patterns, relative to need. Findings: In 2019, at the onset of the COVID-19 pandemic, US$9·2 trillion (95% uncertainty interval [UI] 9·1–9·3) was spent on health worldwide. We found great disparities in the amount of resources devoted to health, with high-income countries spending $7·3 trillion (95% UI 7·2–7·4) in 2019;293·7 times the $24·8 billion (95% UI 24·3–25·3) spent by low-income countries in 2019. That same year, $43·1 billion in development assistance was provided

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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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