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Worldwide Soundscapes: A Synthesis of Passive Acoustic Monitoring Across Realms

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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Galactic transient sources with the Cherenkov Telescope Array Observatory

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Monthly Notices of the Royal Astronomical Society 2025年第1期540卷 205–238页

作者： Abe, K Abe, S Abhir, J Abhishek, A Acero, F Acharyya, A Adam, R Aguasca-Cabot, A Agudo, I Aguirre-Santaella, A Alfaro, J Alfaro, R Alvarez-Crespo, N Alves Batista, R Amans, J-P Amato, E Ambrosi, G Ambrosino, F Angüner, E O Antonelli, L A Aramo, C Arcaro, C Arnesen, T T H Asano, K Ascasibar, Y Aschersleben, J Ashkar, H Augusto Stuani, L Baack, D Backes, M Balazs, C Balbo, M Baquero Larriva, A Barbosa Martins, V Barres de Almeida, U Barrio, J A Barrios-Jiménez, L Batković, I Batzofin, R Baxter, J Becerra González, J Becker Tjus, J Belmont, R Benbow, W Bernete, J Bernlöhr, K Berti, A Bertucci, B Beshley, V Bhattacharjee, P Bhattacharyya, S Bigongiari, C Bissaldi, E Blanch, O Blazek, J Bocchino, F Boisson, C Bolmont, J Bonnoli, G Bonollo, A Bordas, P Bosnjak, Z Bottacini, E Böttcher, M Bradascio, F Bronzini, E Brown, A M Brunelli, G Bulgarelli, A Burelli, I Burger-Scheidlin, C Burmistrov, L Burton, M Buscemi, M Cailleux, J Campoy-Ordaz, A Cantlay, B K Capasso, G Caproni, A Capuzzo-Dolcetta, R Caraveo, P Caroff, S Carosi, A Carosi, R Carquin, E Carrasco, M-S Cascone, E Cassol, F Castaldini, L Castrejon, N Castro-Tirado, A J Cerasole, D Ceribella, G Cerruti, M Chadwick, P M Chaty, S Chen, A W Chernyakova, M Chiavassa, A Chudoba, J Chytka, L Cicciari, G M Cifuentes, A Coimbra Araujo, C H Colapietro, M Conforti, V Contreras, J L Cortina, J Costa, A Costantini, H Cotter, G Cristofari, P Cuevas, O Curtis-Ginsberg, Z D’Aì, A D’Amico, G D’Ammando, F Dai, S Dazzi, F de Bony de Lavergne, M De Caprio, V De Cesare, G De Frondat Laadim, F de Gouveia Dal Pino, E M De Lotto, B De Lucia, M de Martino, D de Menezes, R de Naurois, M de Ona Wilhelmi, E de Souza, V del Peral, L del Valle, M V Delgado, C Dell’aiera, M Della Valle, M della Volpe, D Depaoli, D Devin, J Di Girolamo, T Di Piano, A Di Pierro, F Di Tria, R Di Venere, L Diebold, S Dignam, C Dima, R Dinesh, A Djuvsland, J Dominik, R M Dominis Prester, D Donini, A Dorner, D Dörner, J Doro, M Dubos, C Ducci, L Dwarkadas, V V Ebr, J Eckner, C Egberts, K Einecke, S Elsässer, D Emery Department of Physics Tokai University 4-1-1 Kita-Kaname Hiratsuka Kanagawa 259-1292 Japan Institute for Cosmic Ray Research University of Tokyo 5-1-5 Kashiwa-no-ha Kashiwa Chiba 277-8582 Japan ETH Zürich Institute for Particle Physics and Astrophysics Otto-Stern-Weg 5 CH-8093 Zürich Switzerland INFN and Università degli Studi di Siena Dipartimento di Scienze Fisiche della Terra e dell’Ambiente (DSFTA) Sezione di Fisica Via Roma 56 I-53100 Siena Italy Université Paris-Saclay Université Paris Cité CEA CNRS AIM F-91191 Gif-sur-Yvette Cedex France FSLAC IRL 2009 CNRS/IAC E-38205 La Laguna Tenerife Spain University of Alabama Tuscaloosa Department of Physics and Astronomy Gallalee Hall Box 870324 Tuscaloosa AL 35487-0324 USA Université Côte d’Azur Observatoire de la Côte d’Azur CNRS Laboratoire Lagrange UF 06304 Nice France Laboratoire Leprince-Ringuet CNRS/IN2P3 École Polytechnique Institut Polytechnique de Paris F-91120 Palaiseau France Departament de Física Quàntica i Astrofísica Institut de Ciències del Cosmos Universitat de Barcelona IEEC-UB Martí i Franquès 1 E-08028 Barcelona Spain Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n E-18008 Granada Spain Institute for Computational Cosmology and Department of Physics Durham University South Road Durham DH1 3LE UK Pontificia Universidad Católica de Chile Av. Libertador Bernardo O’Higgins 340 8331150 Santiago Chile Universidad Nacional Autónoma de México Delegación Coyoacán 04510 Ciudad de México Mexico IPARCOS-UCM Instituto de Física de Partículas y del Cosmos and EMFTEL Department Universidad Complutense de Madrid E-28040 Madrid Spain Instituto de Física Teórica UAM/CSIC and Departamento de Física Teórica Universidad Autónoma de Madrid c/ Nicolás Cabrera 13-15 Campus de Cantoblanco UAM E-28049 Madrid Spain LUTH GEPI and LERMA Observatoire de Paris Université PSL Université Paris Cité CNRS 5 place Jules Janssen F-92190 Meudon France INAF – Osservatorio

A wide variety of Galactic sources show transient emission at soft and hard X-ray energies: low- and high-mass X-ray binaries containing compact objects, isolated neutron stars exhibiting extreme variability as magnetars as well as pulsar-wind nebulae. Although most of them can show emission up to MeV and/or GeV energies, many have not yet been detected in the TeV domain by Imaging Atmospheric Cherenkov Telescopes. In this paper, we explore the feasibility of detecting new Galactic transients with the Cherenkov Telescope Array Observatory (CTAO) and the prospects for studying them with Target of Opportunity observations. We show that CTAO will likely detect new sources in the TeV regime, such as the massive microquasars in the Cygnus region, low-mass X-ray binaries with low-viewing angle, flaring emission from the Crab pulsar-wind nebula or other novae explosions, among others. Since some of these sources could also exhibit emission at larger time-scales, we additionally test their detectability at longer exposures. We finally discuss the multiwavelength synergies with other instruments and large astronomical facilities.

关键词： binaries: general stars: magnetars novae cataclysmic variables pulsars: general gamma-rays: general

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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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Erratum for Wang et al., "Clinically Applicable System for Rapidly Predicting Enterococcus faecium Susceptibility to Vancomycin"

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Microbiology spectrum 2022年第1期10卷 e0261021页

作者： Hsin-Yao Wang Chia-Ru Chung Chao-Jung Chen Ko-Pei Lu Yi-Ju Tseng Tzu-Hao Chang Min-Hsien Wu Wan-Ting Huang Ting-Wei Lin Tsui-Ping Liu Tzong-Yi Lee Jorng-Tzong Horng Jang-Jih Lu Department of Laboratory Medicine Chang Gung Memorial Hospitalgrid.413801.f at Linkou Taoyuan City Taiwan. Ph.D. Program in Biomedical Engineering Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Computer Science and Information Engineering National Central Universitygrid.37589.30 Taoyuan City Taiwan. Graduate Institute of Integrated Medicine China Medical Universitygrid.254145.3 Taichung Taiwan. Proteomics Core Laboratory China Medical Universitygrid.254145.3 Hospital Taichung Taiwan. Graduate Program in Biomedical Information Yuan-Ze University Taoyuan City Taiwan. Department of Information Management Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Graduate Institute of Biomedical Informatics Taipei Medical University Taipei City Taiwan. Clinical Big Data Research Center Taipei Medical University Hospital Taipei City Taiwan. Graduate Institute of Biomedical Engineering Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Division of Haematology/Oncology Department of Internal Medicine Chang Gung Memorial Hospitalgrid.413801.f at Linkou Taoyuan City Taiwan. Biosensor Group Biomedical Engineering Research Center Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Pathology Kaohsiung Chang Gung Memorial Hospitalgrid.413801.f and Chang Gung University College of Medicine Kaohsiung Taiwan. School of Life and Health Sciences The Chinese University of Hong Kong Shenzhen China. Warshel Institute for Computational Biology The Chinese University of Hong Kong Shenzhen China. Department of Bioinformatics and Medical Engineering Asia University Taichung City Taiwan. School of Medicine Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Medical Biotechnology and Laboratory Science Chang Gung Universitygrid.145695.a Taoyuan City Taiwan.

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CHIME/FRB Outriggers: Design Overview

arXiv

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arXiv 2025年

作者： Amiri, Mandana Andersen, Bridget C. Andrew, Shion Bandura, Kevin Bhardwaj, Mohit Bhopi, Kalyani Bidula, Vadym Boyle, P.J. Brar, Charanjot Carlson, Mark Cassanelli, Tomas Cassity, Alyssa Chatterjee, Shami Cliche, Jean-François Curtin, Alice P. Darlinger, Rachel DeBoer, David R. Dobbs, Matt Dong, Fengqiu Adam Eadie, Gwendolyn Fonseca, Emmanuel Gaensler, B.M. Gusinskaia, Nina Halpern, Mark Hendricksen, Ian Hessels, Jason Joseph, Ronniy C. Kaczmarek, Jane Kaspi, Victoria M. Khairy, Kholoud Landecker, T.L. Lanman, Adam E. Kit Lau, Albert Wai Lazda, Mattias Leung, Calvin Main, Robert A. Masui, Kiyoshi W. McKinven, Ryan Mena-Parra, Juan Meyers, Bradley W. Michilli, Daniele Milutinovic, Nikola Nimmo, Kenzie Noble, Gavin Pandhi, Ayush Pearlman, Aaron B. Peterson, Jeffrey B. Petroff, Emily Pleunis, Ziggy Pollak, Alexander W. Rafiei-Ravandi, Masoud Renard, Andre Sammons, Mawson W. Sand, Ketan R. Sanghavi, Pranav Scholz, Paul Shah, Vishwangi Shin, Kaitlyn Siegel, Seth R. Siemion, Andrew Sievers, Jonathan L. Smith, Kendrick Spear, David Stairs, Ingrid Vanderlinde, Keith Wang, Haochen Willis, Jacob P. Zegmott, Tarik J. Department of Physics and Astronomy University of British Columbia 6224 Agricultural Road VancouverBCV6T 1Z1 Canada Department of Physics McGill University 3600 rue University MontréalQCH3A 2T8 Canada Trottier Space Institute McGill University 3550 rue University MontréalQCH3A 2A7 Canada MIT Kavli Institute for Astrophysics and Space Research Massachusetts Institute of Technology 77 Massachusetts Ave CambridgeMA02139 United States Department of Physics Massachusetts Institute of Technology 77 Massachusetts Ave CambridgeMA02139 United States Lane Department of Computer Science and Electrical Engineering 1220 Evansdale Drive PO Box 6109 MorgantownWV26506 United States Center for Gravitational Waves and Cosmology West Virginia University Chestnut Ridge Research Building MorgantownWV26505 United States McWilliams Center for Cosmology & Astrophysics Department of Physics Carnegie Mellon University PittsburghPA15213 United States National Research Council of Canada Herzberg Astronomy and Astrophysics 5071 West Saanich Road VictoriaBCV9E2E7 Canada Department of Electrical Engineering Universidad de Chile Av. Tupper 2007 Santiago8370451 Chile Cornell Center for Astrophysics and Planetary Science Cornell University IthacaNY14853 United States Department of Astronomy University of California BerkeleyCA94720 United States National Radio Astronomy Observatory 520 Edgemont Rd CharlottesvilleVA22903 United States Department of Astronomy and Astrophysics University of Toronto 50 St. George Street ONM5S 3H4 Canada Department of Statistical Sciences University of Toronto 700 University Ave. TorontoONM5G 1Z5 Canada Data Sciences Institute University of Toronto 700 University Ave. TorontoONM5G 1Z5 Canada Department of Physics and Astronomy West Virginia University PO Box 6315 MorgantownWV26506 United States Department of Astronomy and Astrophysics University of California Santa Cruz 1156 High Street Santa CruzCA95060 United States

The Canadian Hydrogen Intensity Mapping Experiment (CHIME) has emerged as the world’s premier facility for studying fast radio bursts (FRBs) through its fast transient search backend CHIME/FRB. The CHIME/FRB Outriggers project will augment this high detection rate of 2–3 FRBs per day with the ability to precisely localize them using very long baseline interferometry (VLBI). Using three strategically located stations in North America and deploying recently developed synoptic VLBI observing techniques, the Outriggers will provide ∼ 50 milliarcsecond localization precision for the majority of detected FRBs. This paper presents an overview of the design and implementation of the Outriggers, covering their geographic distribution, structural design, and observational capabilities. We detail the scientific objectives driving the project, including the characterization of FRB populations, host galaxy demographics, and the use of FRBs as cosmological probes. We also discuss the calibration strategies available to mitigate ionospheric and instrumental effects, ensuring high-precision localization. With two stations currently in science operations, and the third in commissioning, the CHIME/FRB Outriggers project is poised to become a cornerstone of the FRB field, offering unprecedented insights into this enigmatic cosmic phenomenon. Copyright © 2025, The Authors. All rights reserved.

关键词： Dark Matter

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Variant interpretation using population databases: lessons from gnomAD

arXiv

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arXiv 2021年

作者： Gudmundsson, Sanna Singer-Berk, Moriel Watts, Nicholas A. Phu, William Goodrich, Julia K. Solomonson, Matthew Rehm, Heidi L. MacArthur, Daniel G. O'Donnell-Luria, Anne Abreu, Maria Aguilar Salinas, Carlos A. Ahmad, Tariq Albert, Christine M. Alföldi, Jessica Ardissino, Diego Armean, Irina M. Atzmon, Gil Banks, Eric Barnard, John Baxter, Samantha M. Beaugerie, Laurent Benjamin, Emelia J. Benjamin, David Bergelson, Louis Boehnke, Michael Bonnycastle, Lori L. Bottinger, Erwin P. Bowden, Donald W. Bown, Matthew J. Brant, Steven Calvo, Sarah E. Campos, Hannia Chambers, John C. Chan, Juliana C. Chao, Katherine R. Chapman, Sinéad Chasman, Daniel Chisholm, Rex Cho, Judy Chowdhury, Rajiv Chung, Mina K. Chung, Wendy Cibulskis, Kristian Cohen, Bruce Collins, Ryan L. Connolly, Kristen M. Correa, Adolfo Covarrubias, Miguel Cummings, Beryl Dabelea, Dana Daly, Mark J. Danesh, John Darbar, Dawood Denny, Joshua Donnelly, Stacey Duggirala, Ravindranath Dupuis, Josée Ellinor, Patrick T. Elosua, Roberto Emery, James England, Eleina Erdmann, Jeanette Esko, Tõnu Evangelista, Emily Farjoun, Yossi Fatkin, Diane Ferriera, Steven Florez, Jose Francioli, Laurent Franke, Andre Färkkilä, Martti Gabriel, Stacey Garimella, Kiran Gauthier, Laura D. Gentry, Jeff Getz, Gad Glahn, David C. Glaser, Benjamin Glatt, Stephen J. Goldstein, David Gonzalez, Clicerio Goodrich, Julia Groop, Leif Gudmundsson, Sanna Gupta, Namrata Haessly, Andrea Haiman, Christopher Hall, Ira Hanis, Craig Harms, Matthew Hiltunen, Mikko Holi, Matti M. Hultman, Christina M. Jalas, Chaim Jeandet, Thibault Kallela, Mikko Kaplan, Diane Kaprio, Jaakko Karczewski, Konrad J. Kathiresan, Sekar Kenny, Eimear Kim, Bong-Jo Kim, Young Jin Kirov, George Kooner, Jaspal Koskinen, Seppo Krumholz, Harlan M. Kugathasan, Subra Kwak, Soo Heon Laakso, Markku Lake, Nicole Langsford, Trevyn Laricchia, Kristen M. Lehtimäki, Terho Lek, Monkol Lipscomb, Emily Llanwarne, Christopher Loos, Ruth J.F. Lubitz, Steven A. Luna, Teresa Tusie Ma, Ronald C.W. MacArthur, Daniel G. Marcus, Gregory M. Marrugat, Ja University of Miami Miller School of Medicine Gastroenterology Miami United States Unidad de Investigacion de Enfermedades Metabolicas Instituto Nacional de Ciencias Medicas y Nutricion Mexico City Mexico Peninsula College of Medicine and Dentistry Exeter United Kingdom Division of Preventive Medicine Brigham and Women's Hospital BostonMA United States Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard CambridgeMA United States Analytic and Translational Genetics Unit Massachusetts General Hospital BostonMA United States Department of Cardiology University Hospital Parma Italy European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge United Kingdom Department of Biology Faculty of Natural Sciences University of Haifa Haifa Israel Department of Medicine and Genetics Albert Einstein College of Medicine BronxNY United States Data Science Platform Broad Institute of MIT and Harvard CambridgeMA United States Department of Quantitative Health Sciences Lerner Research Institute Cleveland Clinic ClevelandOH United States Sorbonne Université APHP Gastroenterology Department Saint Antoine Hospital Paris France NHLBI Boston University's Framingham Heart Study FraminghamMA United States Department of Medicine Boston University School of Medicine BostonMA United States Department of Epidemiology Boston University School of Public Health BostonMA United States Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann ArborMS United States National Human Genome Research Institute National Institutes of Health BethesdaMD United States The Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New YorkNY United States Department of Biochemistry Wake Forest School of Medicine Winston-SalemNC

Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease-gene relationships. The Genome Aggregation database (gnomAD) is currently the largest and most widely used publicly available collection of population variation from harmonized sequencing data. The data is available through the online gnomAD browser (https://***/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation. We introduce key features including allele frequency, per-base expression levels, constraint scores, and variant co-occurrence, alongside guidance on how to use these in analysis, with a focus on the interpretation of candidate variants and novel genes in rare disease. © 2021, CC BY.

关键词： Genes

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Author Correction: The power of genetic diversity in genome-wide association studies of lipids

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Nature 2023年第7965期618卷 E19-E20页

作者： Sarah E Graham Shoa L Clarke Kuan-Han H Wu Stavroula Kanoni Greg J M Zajac Shweta Ramdas Ida Surakka Ioanna Ntalla Sailaja Vedantam Thomas W Winkler Adam E Locke Eirini Marouli Mi Yeong Hwang Sohee Han Akira Narita Ananyo Choudhury Amy R Bentley Kenneth Ekoru Anurag Verma Bhavi Trivedi Hilary C Martin Karen A Hunt Qin Hui Derek Klarin Xiang Zhu Gudmar Thorleifsson Anna Helgadottir Daniel F Gudbjartsson Hilma Holm Isleifur Olafsson Masato Akiyama Saori Sakaue Chikashi Terao Masahiro Kanai Wei Zhou Ben M Brumpton Humaira Rasheed Sanni E Ruotsalainen Aki S Havulinna Yogasudha Veturi QiPing Feng Elisabeth A Rosenthal Todd Lingren Jennifer Allen Pacheco Sarah A Pendergrass Jeffrey Haessler Franco Giulianini Yuki Bradford Jason E Miller Archie Campbell Kuang Lin Iona Y Millwood George Hindy Asif Rasheed Jessica D Faul Wei Zhao David R Weir Constance Turman Hongyan Huang Mariaelisa Graff Anubha Mahajan Michael R Brown Weihua Zhang Ketian Yu Ellen M Schmidt Anita Pandit Stefan Gustafsson Xianyong Yin Jian'an Luan Jing-Hua Zhao Fumihiko Matsuda Hye-Mi Jang Kyungheon Yoon Carolina Medina-Gomez Achilleas Pitsillides Jouke Jan Hottenga Gonneke Willemsen Andrew R Wood Yingji Ji Zishan Gao Simon Haworth Ruth E Mitchell Jin Fang Chai Mette Aadahl Jie Yao Ani Manichaikul Helen R Warren Julia Ramirez Jette Bork-Jensen Line L Kårhus Anuj Goel Maria Sabater-Lleal Raymond Noordam Carlo Sidore Edoardo Fiorillo Aaron F McDaid Pedro Marques-Vidal Matthias Wielscher Stella Trompet Naveed Sattar Line T Møllehave Betina H Thuesen Matthias Munz Lingyao Zeng Jianfeng Huang Bin Yang Alaitz Poveda Azra Kurbasic Claudia Lamina Lukas Forer Markus Scholz Tessel E Galesloot Jonathan P Bradfield E Warwick Daw Joseph M Zmuda Jonathan S Mitchell Christian Fuchsberger Henry Christensen Jennifer A Brody Mary F Feitosa Mary K Wojczynski Michael Preuss Massimo Mangino Paraskevi Christofidou Niek Verweij Jan W Benjamins Jorgen Engmann Rachel L Kember Roderick C Slieker Ken Sin Lo Nuno R Zilhao Phuong Le Marcus E Kleber Graciela E Delgado Shaofeng Huo Dai Department of Internal Medicine Division of Cardiology University of Michigan Ann Arbor MI USA. VA Palo Alto Health Care System Palo Alto CA USA. Department of Medicine Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA. Department of Computational Medicine and Bioinformatics University of Michigan Ann Arbor MI USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Department of Biostatistics and Center for Statistics Genetics University of Michigan Ann Arbor MI USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Clinical Pharmacology William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK. Endocrinology Boston Children's Hospital Boston MA USA. Medical and Population Genetics Broad Institute Cambridge MA USA. Department of Genetic Epidemiology University of Regensburg Regensburg Germany. McDonnell Genome Institute and Department of Medicine Washington University St Louis MO USA. Department of Precision Medicine Division of Genome Science National Institute of Health Cheongju-si South Korea. Tohoku Medical Megabank Organization Tohoku University Sendai Japan. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa. Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA. Blizard Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London London UK. Wellcome Sanger Institute Hinxton UK. Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA. Atlanta VA Health Care System Decatur GA USA. Malcolm Randall VA Medical Center Gainesville FL USA. Division of Vascular Sur

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Erratum to 'Relation Between Mitral Valve Prolapse and Erectile Dysfunction (from a Nationwide Case-Control Study)': The American Journal of Cardiology 2019 Nov 15;124(10):1590-1593./ doi: 10.1016/***.2019.08.010

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The American journal of cardiology 2021年 142卷 161页

作者： Shiu-Dong Chung Ju-Chi Liu Tsai-Ning Lou Ben-Chang Shia Herng-Ching Lin Li-Ting Kao Division of Urology Department of Surgery Far Eastern Memorial Hospital Taipei Taiwan Department of Computer Science and Engineering and Graduate Program in Biomedical Informatics College of Informatics Yuan-Ze University Chung-Li Taiwan Sleep Research Center Taipei Medical University Hospital Taipei Taiwan. Department of Internal Medicine School of Medicine College of Medicine Taipei Medical University Taipei Taiwan Division of Cardiovascular Medicine Department of Medicine Medical University Hospital-Shuang Ho Hospital TaipeiTaiwan. School of Health Care Administration Taipei Medical University Taipei Taiwan. Big Data Research Center Taipei Medical University Taipei Taiwan. Sleep Research Center Taipei Medical University Hospital Taipei Taiwan School of Health Care Administration Taipei Medical University Taipei Taiwan Graduate Institute of Life Sciences National Defense Medical Center Taipei Taiwan Department of Pharmacy Practice Tri-Service General Hospital Taipei Taiwan School of Pharmacy National Defense Medical Center Taipei Taiwan.. Electronic address: kaoliting@***.

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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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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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