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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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Open Data from the Third Observing Run of LIGO, Virgo, KAGRA, and GEO

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Astrophysical Journal, Supplement Series 2023年第2期267卷 29-29页

作者： Abbott, R. Abe, H. Acernese, F. Ackley, K. Adhicary, S. Adhikari, N. Adhikari, R.X. Adkins, V.K. Adya, V.B. Affeldt, C. Agarwal, D. Agathos, M. Aguiar, O.D. Aiello, L. Ain, A. Ajith, P. Akutsu, T. Albanesi, S. Alfaidi, R.A. Al-Jodah, A. Alléné, C. Allocca, A. Almualla, M. Altin, P.A. Amato, A. Amez-Droz, L. Amorosi, A. Anand, S. Ananyeva, A. Andersen, R. Anderson, S.B. Anderson, W.G. Andia, M. Ando, M. Andrade, T. Andres, N. Andrés-Carcasona, M. Andrić, T. Ansoldi, S. Antelis, J.M. Antier, S. Aoumi, M. Apostolatos, T. Appavuravther, E.Z. Appert, S. Apple, S.K. Arai, K. Araya, A. Araya, M.C. Areeda, J.S. Arène, M. Aritomi, N. Arnaud, N. Arogeti, M. Aronson, S.M. Arun, K.G. Asada, H. Ashton, G. Aso, Y. Assiduo, M. Assis de Souza Melo, S. Aston, S.M. Astone, P. Aubin, F. AultONeal, K. Babak, S. Badalyan, A. Badaracco, F. Badger, C. Bae, S. Bagnasco, S. Bai, Y. Baier, J.G. Baiotti, L. Baird, J. Bajpai, R. Baka, T. Ball, M. Ballardin, G. Ballmer, S.W. Baltus, G. Banagiri, S. Banerjee, B. Bankar, D. Baral, P. Barayoga, J.C. Barber, J. Barish, B.C. Barker, D. Barneo, P. Barone, F. Barr, B. Barsotti, L. Barsuglia, M. Barta, D. Barthelmy, S.D. Barton, M.A. Bartos, I. Basak, S. Basalaev, A. Bassiri, R. Basti, A. Bawaj, M. Bayley, J.C. Baylor, A.C. Bazzan, M. Bécsy, B. Bedakihale, V.M. Beirnaert, F. Bejger, M. Bell, A.S. Benedetto, V. Beniwal, D. Benoit, W. Bentley, J.D. Ben Yaala, M. Bera, S. Berbel, M. Bergamin, F. Berger, B.K. Bernuzzi, S. Beroiz, M. Berry, C.P.L. Bersanetti, D. Bertolini, A. Betzwieser, J. Beveridge, D. Bevins, N. Bhandare, R. Bhandari, A.V. Bhardwaj, U. Bhatt, R. Bhattacharjee, D. Bhaumik, S. Bianchi, A. Bilenko, I.A. Bilicki, M. Billingsley, G. Bini, S. Birnholtz, O. Biscans, S. Bischi, M. Biscoveanu, S. Bisht, A. Biswas, B. Bitossi, M. Bizouard, M.-A. Blackburn, J.K. Blair, C.D. Blair, D.G. Blair, R.M. Bobba, F. Bode, N. Boër, M. Bogaert, G. Boileau, G. Boldrini, M. Bolingbroke, G.N. Bonavena, L.D. Bondarescu, R. Bondu, F. Bonilla, E. Bonilla, G.S. Bonnand, R. Booker, P. Bork, R. Boschi, V. Bose, N. LIGO Laboratory California Institute of Technology Pasadena 91125 CA United States Graduate School of Science Tokyo Institute of Technology 2-12-1 Ookayama Meguro-ku Tokyo 152-8551 Japan Dipartimento di Farmacia Università di Salerno Salerno Fisciano I-84084 Italy INFN Sezione di Napoli Napoli I-80126 Italy OzGrav School of Physics & Astronomy Monash University Clayton 3800 VIC Australia The Pennsylvania State University University Park 16802 PA United States University of Wisconsin-Milwaukee Milwaukee 53201 WI United States Louisiana State University Baton Rouge 70803 LA United States OzGrav Australian National University Canberra 0200 ACT Australia Max Planck Institute for Gravitational Physics (Albert Einstein Institute) Hannover D-30167 Germany Leibniz Universität Hannover Hannover D-30167 Germany Inter-University Centre for Astronomy and Astrophysics Pune 411007 India University of Cambridge Cambridge CB2 1TN United Kingdom Instituto Nacional de Pesquisas Espaciais São Paulo São José dos Campos 12227-010 Brazil Cardiff University Cardiff CF24 3AA United Kingdom INFN Sezione di Pisa Pisa I-56127 Italy International Centre for Theoretical Sciences Tata Institute of Fundamental Research Bengaluru 560089 India Gravitational Wave Science Project National Astronomical Observatory of Japan 2-21-1 Osawa Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan 2-21-1 Osawa Mitaka City Tokyo 181-8588 Japan Dipartimento di Fisica Università degli Studi di Torino Torino I-10125 Italy INFN Sezione di Torino Torino I-10125 Italy SUPA University of Glasgow Glasgow G12 8QQ United Kingdom OzGrav University of Western Australia Crawley 6009 WA Australia Univ. Savoie Mont Blanc CNRS Laboratoire d'Annecy de Physique des Particules - IN2P3 Annecy F-74000 France Università di Napoli “Federico II” Napoli I-80126 Italy University of Minnesota Minneapolis 55455 MN United States M

The global network of gravitational-wave observatories now includes five detectors, namely LIGO Hanford, LIGO Livingston, Virgo, KAGRA, and GEO 600. These detectors collected data during their third observing run, O3, composed of three phases: O3a starting in 2019 April and lasting six months, O3b starting in 2019 November and lasting five months, and O3GK starting in 2020 April and lasting two weeks. In this paper we describe these data and various other science products that can be freely accessed through the Gravitational Wave Open science Center at https://***. The main data set, consisting of the gravitational-wave strain time series that contains the astrophysical signals, is released together with supporting data useful for their analysis and documentation, tutorials, as well as analysis software packages. © 2023. The Author(s). Published by the American Astronomical Society.

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All-sky search for long-duration gravitational-wave bursts in the third advanced LIGO and advanced Virgo run

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Physical Review D 2021年第10期104卷 102001-102001页

作者： R. Abbott T. D. Abbott F. Acernese K. Ackley C. Adams N. Adhikari R. X. Adhikari V. B. Adya C. Affeldt D. Agarwal M. Agathos K. Agatsuma N. Aggarwal O. D. Aguiar L. Aiello A. Ain P. Ajith T. Akutsu S. Albanesi A. Allocca P. A. Altin A. Amato C. Anand S. Anand A. Ananyeva S. B. Anderson W. G. Anderson M. Ando T. Andrade N. Andres T. Andrić S. V. Angelova S. Ansoldi J. M. Antelis S. Antier S. Appert Koji Arai Koya Arai Y. Arai S. Araki A. Araya M. C. Araya J. S. Areeda M. Arène N. Aritomi N. Arnaud S. M. Aronson K. G. Arun H. Asada Y. Asali G. Ashton Y. Aso M. Assiduo S. M. Aston P. Astone F. Aubin C. Austin S. Babak F. Badaracco M. K. M. Bader C. Badger S. Bae Y. Bae A. M. Baer S. Bagnasco Y. Bai L. Baiotti J. Baird R. Bajpai M. Ball G. Ballardin S. W. Ballmer A. Balsamo G. Baltus S. Banagiri D. Bankar J. C. Barayoga C. Barbieri B. C. Barish D. Barker P. Barneo F. Barone B. Barr L. Barsotti M. Barsuglia D. Barta J. Bartlett M. A. Barton I. Bartos R. Bassiri A. Basti M. Bawaj J. C. Bayley A. C. Baylor M. Bazzan B. Bécsy V. M. Bedakihale M. Bejger I. Belahcene V. Benedetto D. Beniwal T. F. Bennett J. D. Bentley M. BenYaala F. Bergamin B. K. Berger S. Bernuzzi D. Bersanetti A. Bertolini J. Betzwieser D. Beveridge R. Bhandare U. Bhardwaj D. Bhattacharjee S. Bhaumik I. A. Bilenko G. Billingsley S. Bini R. Birney O. Birnholtz S. Biscans M. Bischi S. Biscoveanu A. Bisht B. Biswas M. Bitossi M.-A. Bizouard J. K. Blackburn C. D. Blair D. G. Blair R. M. Blair F. Bobba N. Bode M. Boer G. Bogaert M. Boldrini L. D. Bonavena F. Bondu E. Bonilla R. Bonnand P. Booker B. A. Boom R. Bork V. Boschi N. Bose S. Bose V. Bossilkov V. Boudart Y. Bouffanais A. Bozzi C. Bradaschia P. R. Brady A. Bramley A. Branch M. Branchesi J. E. Brau M. Breschi T. Briant J. H. Briggs A. Brillet M. Brinkmann P. Brockill A. F. Brooks J. Brooks D. D. Brown S. Brunett G. Bruno R. Bruntz J. Bryant T. Bulik H. J. Bulten A. Buonanno R. Buscicchio D. Buskulic C. Buy R. L. Byer L. Cadonati G. Cagnoli C. Cahillane J. Calderón Bustillo J. D. Callaghan T. A. Callis LIGO Laboratory California Institute of Technology Pasadena California 91125 USA Louisiana State University Baton Rouge Louisiana 70803 USA Dipartimento di Farmacia Università di Salerno I-84084 Fisciano Salerno Italy INFN Sezione di Napoli Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy OzGrav School of Physics and Astronomy Monash University Clayton 3800 Victoria Australia LIGO Livingston Observatory Livingston Louisiana 70754 USA University of Wisconsin-Milwaukee Milwaukee Wisconsin 53201 USA OzGrav Australian National University Canberra Australian Capital Territory 0200 Australia Max Planck Institute for Gravitational Physics (Albert Einstein Institute) D-30167 Hannover Germany Leibniz Universität Hannover D-30167 Hannover Germany Inter-University Centre for Astronomy and Astrophysics Pune 411007 India University of Cambridge Cambridge CB2 1TN United Kingdom Theoretisch-Physikalisches Institut Friedrich-Schiller-Universität Jena D-07743 Jena Germany University of Birmingham Birmingham B15 2TT United Kingdom Center for Interdisciplinary Exploration & Research in Astrophysics (CIERA) Northwestern University Evanston Illinois 60208 USA Instituto Nacional de Pesquisas Espaciais 12227-010 São José dos Campos São Paulo Brazil Gravity Exploration Institute Cardiff University Cardiff CF24 3AA United Kingdom INFN Sezione di Pisa I-56127 Pisa Italy International Centre for Theoretical Sciences Tata Institute of Fundamental Research Bengaluru 560089 India Gravitational Wave Science Project National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan INFN Sezione di Torino I-10125 Torino Italy Università di Napoli “Federico II ” Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy Université de Lyon Université Claude Bernard Lyon 1 CNRS Institut Lumière Matière F-69622 Villeurbanne France

After the detection of gravitational waves from compact binary coalescences, the search for transient gravitational-wave signals with less well-defined waveforms for which matched filtering is not well suited is one of the frontiers for gravitational-wave astronomy. Broadly classified into “short” ≲1 s and “long” ≳1 s duration signals, these signals are expected from a variety of astrophysical processes, including non-axisymmetric deformations in magnetars or eccentric binary black hole coalescences. In this work, we present a search for long-duration gravitational-wave transients from advanced LIGO and advanced Virgo’s third observing run from April 2019 to March 2020. For this search, we use minimal assumptions for the sky location, event time, waveform morphology, and duration of the source. The search covers the range of 2–500 s in duration and a frequency band of 24–2048 Hz. We find no significant triggers within this parameter space; we report sensitivity limits on the signal strength of gravitational waves characterized by the root-sum-square amplitude hrss as a function of waveform morphology. These hrss limits improve upon the results from the second observing run by an average factor of 1.8.

关键词： Astrophysical studies of gravity Gravitational wave detection Gravitational wave sources Gravitational waves

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All-sky search for short gravitational-wave bursts in the third advanced LIGO and advanced Virgo run

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Physical Review D 2021年第12期104卷 122004-122004页

作者： R. Abbott T. D. Abbott F. Acernese K. Ackley C. Adams N. Adhikari R. X. Adhikari V. B. Adya C. Affeldt D. Agarwal M. Agathos K. Agatsuma N. Aggarwal O. D. Aguiar L. Aiello A. Ain P. Ajith T. Akutsu S. Albanesi A. Allocca P. A. Altin A. Amato C. Anand S. Anand A. Ananyeva S. B. Anderson W. G. Anderson M. Ando T. Andrade N. Andres T. Andrić S. V. Angelova S. Ansoldi J. M. Antelis S. Antier S. Appert Koji Arai Koya Arai Y. Arai S. Araki A. Araya M. C. Araya J. S. Areeda M. Arène N. Aritomi N. Arnaud S. M. Aronson K. G. Arun H. Asada Y. Asali G. Ashton Y. Aso M. Assiduo S. M. Aston P. Astone F. Aubin C. Austin S. Babak F. Badaracco M. K. M. Bader C. Badger S. Bae Y. Bae A. M. Baer S. Bagnasco Y. Bai L. Baiotti J. Baird R. Bajpai M. Ball G. Ballardin S. W. Ballmer A. Balsamo G. Baltus S. Banagiri D. Bankar J. C. Barayoga C. Barbieri B. C. Barish D. Barker P. Barneo F. Barone B. Barr L. Barsotti M. Barsuglia D. Barta J. Bartlett M. A. Barton I. Bartos R. Bassiri A. Basti M. Bawaj J. C. Bayley A. C. Baylor M. Bazzan B. Bécsy V. M. Bedakihale M. Bejger I. Belahcene V. Benedetto D. Beniwal T. F. Bennett J. D. Bentley M. BenYaala F. Bergamin B. K. Berger S. Bernuzzi C. P. L. Berry D. Bersanetti A. Bertolini J. Betzwieser D. Beveridge R. Bhandare U. Bhardwaj D. Bhattacharjee S. Bhaumik I. A. Bilenko G. Billingsley S. Bini R. Birney O. Birnholtz S. Biscans M. Bischi S. Biscoveanu A. Bisht B. Biswas M. Bitossi M.-A. Bizouard J. K. Blackburn C. D. Blair D. G. Blair R. M. Blair F. Bobba N. Bode M. Boer G. Bogaert M. Boldrini L. D. Bonavena F. Bondu E. Bonilla R. Bonnand P. Booker B. A. Boom R. Bork V. Boschi N. Bose S. Bose V. Bossilkov V. Boudart Y. Bouffanais A. Bozzi C. Bradaschia P. R. Brady A. Bramley A. Branch M. Branchesi J. E. Brau M. Breschi T. Briant J. H. Briggs A. Brillet M. Brinkmann P. Brockill A. F. Brooks J. Brooks D. D. Brown S. Brunett G. Bruno R. Bruntz J. Bryant T. Bulik H. J. Bulten A. Buonanno R. Buscicchio D. Buskulic C. Buy R. L. Byer L. Cadonati G. Cagnoli C. Cahillane J. Calderón Bustillo J. D. Callagh LIGO Laboratory California Institute of Technology Pasadena California 91125 USA Louisiana State University Baton Rouge Louisiana 70803 USA Dipartimento di Farmacia Università di Salerno I-84084 Fisciano Salerno Italy INFN Sezione di Napoli Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy OzGrav School of Physics and Astronomy Monash University Clayton 3800 Victoria Australia LIGO Livingston Observatory Livingston Louisiana 70754 USA University of Wisconsin-Milwaukee Milwaukee Wisconsin 53201 USA OzGrav Australian National University Canberra Australian Capital Territory 0200 Australia Max Planck Institute for Gravitational Physics (Albert Einstein Institute) D-30167 Hannover Germany Leibniz Universität Hannover D-30167 Hannover Germany Inter-University Centre for Astronomy and Astrophysics Pune 411007 India University of Cambridge Cambridge CB2 1TN United Kingdom Theoretisch-Physikalisches Institut Friedrich-Schiller-Universität Jena D-07743 Jena Germany University of Birmingham Birmingham B15 2TT United Kingdom Center for Interdisciplinary Exploration and Research in Astrophysics (CIERA) Northwestern University Evanston Illinois 60208 USA Instituto Nacional de Pesquisas Espaciais 12227-010 São José dos Campos São Paulo Brazil Gravity Exploration Institute Cardiff University Cardiff CF24 3AA United Kingdom INFN Sezione di Pisa I-56127 Pisa Italy International Centre for Theoretical Sciences Tata Institute of Fundamental Research Bengaluru 560089 India Gravitational Wave Science Project National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan INFN Sezione di Torino I-10125 Torino Italy Università di Napoli “Federico II ” Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy Université de Lyon Université Claude Bernard Lyon 1 CNRS Institut Lumière Matière F-69622 Villeurbanne Franc

This paper presents the results of a search for generic short-duration gravitational-wave transients in data from the third observing run of advanced LIGO and advanced Virgo. Transients with durations of milliseconds to a few seconds in the 24–4096 Hz frequency band are targeted by the search, with no assumptions made regarding the incoming signal direction, polarization, or morphology. Gravitational waves from compact binary coalescences that have been identified by other targeted analyses are detected, but no statistically significant evidence for other gravitational wave bursts is found. Sensitivities to a variety of signals are presented. These include updated upper limits on the source rate density as a function of the characteristic frequency of the signal, which are roughly an order of magnitude better than previous upper limits. This search is sensitive to sources radiating as little as ∼10−10 M⊙c2 in gravitational waves at ∼70 Hz from a distance of 10 kpc, with 50% detection efficiency at a false alarm rate of one per century. The sensitivity of this search to two plausible astrophysical sources is estimated: neutron star f modes, which may be excited by pulsar glitches, as well as selected core-collapse supernova models.

关键词： Gravitational wave sources Gravitational waves

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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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Prevalence and attributable health burden of chronic respiratory diseases, 1990–2017: a systematic analysis for the Global Burden of Disease Study 2017

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The Lancet Respiratory Medicine 2020年第6期8卷 585-596页

作者： Soriano, Joan B Kendrick, Parkes J Paulson, Katherine R Gupta, Vinay Abrams, Elissa M Adedoyin, Rufus Adesoji Adhikari, Tara Ballav Advani, Shailesh M Agrawal, Anurag Ahmadian, Elham Alahdab, Fares Aljunid, Syed Mohamed Altirkawi, Khalid A Alvis-Guzman, Nelson Anber, Nahla Hamed Andrei, Catalina Liliana Anjomshoa, Mina Ansari, Fereshteh Antó, Josep M Arabloo, Jalal Athari, Seyyede Masoume Athari, Seyyed Shamsadin Awoke, Nefsu Badawi, Alaa Banoub, Joseph Adel Mattar Bennett, Derrick A Bensenor, Isabela M Berfield, Kathleen S Sachiko Bernstein, Robert S Bhattacharyya, Krittika Bijani, Ali Brauer, Michael Bukhman, Gene Butt, Zahid A Cámera, Luis Alberto Car, Josip Carrero, Juan J Carvalho, Felix Castañeda-Orjuela, Carlos A Choi, Jee-Young Jasmine Christopher, Devasahayam J Cohen, Aaron J Dandona, Lalit Dandona, Rakhi Dang, Anh Kim Daryani, Ahmad de Courten, Barbora Demeke, Feleke Mekonnen Demoz, Gebre Teklemariam De Neve, Jan-Walter Desai, Rupak Dharmaratne, Samath Dhamminda Diaz, Daniel Douiri, Abdel Driscoll, Tim Robert Duken, Eyasu Ejeta Eftekhari, Aziz Elkout, Hajer Endries, Aman Yesuf Fadhil, Ibtihal Faro, Andre Farzadfar, Farshad Fernandes, Eduarda Filip, Irina Fischer, Florian Foroutan, Masoud Garcia-Gordillo, M.A. Gebre, Abadi Kahsu Gebremedhin, Ketema Bizuwork Gebremeskel, Gebreamlak Gebremedhn Gezae, Kebede Embaye Ghoshal, Aloke Gopal Gill, Paramjit Singh Gillum, Richard F Goudarzi, Houman Guo, Yuming Gupta, Rajeev Hailu, Gessessew Bugssa Hasanzadeh, Amir Hassen, Hamid Yimam Hay, Simon I Hoang, Chi Linh Hole, Michael K Horita, Nobuyuki Hosgood, H Dean Hostiuc, Mihaela Househ, Mowafa Ilesanmi, Olayinka Stephen Ilic, Milena D Irvani, Seyed Sina Naghibi Islam, Sheikh Mohammed Shariful Jakovljevic, Mihajlo Jamal, Amr A Jha, Ravi Prakash Jonas, Jost B Kabir, Zubair Kasaeian, Amir Kasahun, Gebremicheal Gebreslassie Kassa, Getachew Mullu Kefale, Adane Teshome Kengne, Andre Pascal Khader, Yousef Saleh Khafaie, Morteza Abdullatif Khan, Ejaz Ahmad Khan, Junaid Khubchandani, Jagdish Kim, Young-Eun Kim, Yun Jin Kisa, Hospital Universitario de La Princesa (Princess University Hospital) Madrid Spain Autonomous University of Madrid Madrid Spain Centro de Investigación Biomédica en Red Enfermedades Respiratorias (CIBERES) (Center for Biomedical Research in Respiratory Diseases Network) Madrid Spain Institute for Health Metrics and Evaluation Seattle WA United States Department of Surgery University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Department of Global Health University of Washington Seattle WA United States Department of Medicine University of Washington Seattle WA United States University of Washington Seattle WA United States Section of Allergy and Clinical Immunology University of Manitoba Winnipeg MB Canada Ophthalmology Department University of Manitoba Winnipeg MB Canada Department of Paediatrics University of British Columbia Vancouver BC Canada School of Population and Public Health University of British Columbia Vancouver BC Canada Department of Medical Rehabilitation Obafemi Awolowo University Ile-Ife Nigeria Department of Public Health Aarhus University Aarhus Denmark Nepal Health Frontiers University of Southern Denmark Kathmandu Nepal Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC United States Institute of Genomics and Integrative Biology Council of Scientific & Industrial Research Delhi India Internal Medicine Baylor College of Medicine Houston TX United States Research Center for Chronic Kidney Disease Tabriz University of Medical Sciences Tabriz Iran Research Center for Evidence Based Medicine Tabriz University of Medical Sciences Tabriz Iran Joint Ukraine-Azerbaijan International Research and Education Center of Nanobiotechnology and Functional Nanosystems Baku Azerbaijan Mayo Evidence-based Practice Center Mayo Clinic Foundat

Background: Previous attempts to characterise the burden of chronic respiratory diseases have focused only on specific disease conditions, such as chronic obstructive pulmonary disease (COPD) or asthma. In this study, we aimed to characterise the burden of chronic respiratory diseases globally, providing a comprehensive and up-to-date analysis on geographical and time trends from 1990 to 2017. Methods: Using data from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) 2017, we estimated the prevalence, morbidity, and mortality attributable to chronic respiratory diseases through an analysis of deaths, disability-adjusted life-years (DALYs), and years of life lost (YLL) by GBD super-region, from 1990 to 2017, stratified by age and sex. Specific diseases analysed included asthma, COPD, interstitial lung disease and pulmonary sarcoidosis, pneumoconiosis, and other chronic respiratory diseases. We also assessed the contribution of risk factors (smoking, second-hand smoke, ambient particulate matter and ozone pollution, household air pollution from solid fuels, and occupational risks) to chronic respiratory disease-attributable DALYs. Findings: In 2017, 544·9 million people (95% uncertainty interval [UI] 506·9–584·8) worldwide had a chronic respiratory disease, representing an increase of 39·8% compared with 1990. Chronic respiratory disease prevalence showed wide variability across GBD super-regions, with the highest prevalence among both males and females in high-income regions, and the lowest prevalence in sub-Saharan Africa and south Asia. The age-sex-specific prevalence of each chronic respiratory disease in 2017 was also highly variable geographically. Chronic respiratory diseases were the third leading cause of death in 2017 (7·0% [95% UI 6·8–7·2] of all deaths), behind cardiovascular diseases and neoplasms. Deaths due to chronic respiratory diseases numbered 3 914 196 (95% UI 3 790 578–4 044 819) in 2017, an increase of 18·0% since 1990, while

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The Impact of Genomic Variation on Function (IGVF) Consortium

arXiv

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arXiv 2023年

作者： Shendure, Jay Ahituv, Nadav Kircher, Martin Agarwal, Vikram Blair, Andrew Chalkiadakis, Theofilos Chardon, Florence M. Dash, Pyaree M. Deng, Chengyu Hamazaki, Nobuhiko Keukeleire, Pia Kubo, Connor Lalanne, Jean-Benoît Maass, Thorben Martin, Beth McDiarmid, Troy Nobuhara, Mai Page, Nicholas F. Regalado, Sam Schubach, Max Sims, Jasmine Ushiki, Aki Zhao, Jingjing Starita, Lea M. Fowler, Douglas M. Best, Sabrina M. Boyle, Gabe Camp, Nathan Casadei, Silvia Da, Estelle Y. Dawood, Moez Dawson, Samantha C. Fayer, Shawn Hamm, Audrey James, Richard G. Jarvik, Gail P. McEwen, Abbye E. Moore, Nick Muffley, Lara A. Pendyala, Sriram Popp, Nicholas A. Post, Mason Rubin, Alan F. Shendure, Jay Smith, Nahum T. Rubin, Alan F. Stone, Jeremy Tejura, Malvika Wang, Ziyu R. Wheelock, Melinda K. Woo, Ivan Zapp, Brendan D. Engreitz, Jesse M. Quertermous, Thomas Amgalan, Dulguun Aradhana, Aradhana Arana, Sophia M. Bassik, Michael C. Bauman, Julia R. Bhattacharya, Asmita Cai, Xiangmeng Shawn Chen, Ziwei Conley, Stephanie Deshpande, Salil Doughty, Benjamin R. Du, Peter P. Gifford, Casey Greenleaf, William J. Gschwind, Andreas R. Guo, Katherine Isobe, Sarasa Jagoda, Evelyn Jain, Nimit Jones, Hank Kang, Helen Y. Kim, Samuel H. Kim, YeEun Klemm, Sandy Kundaje, Anshul Kundu, Soumya Lago-Docampo, Mauro Lee-Yow, Yannick C. Levin-Konigsberg, Roni Li, Daniel Y. Lindenhofer, Dominik Rosa Ma, X. Marinov, Georgi K. Martyn, Gabriella E. Metzl-Raz, Eyal Monteiro, Joao P. Montgomery, Michael T. Mualim, Kristy S. Munger, Chad Munson, Glen Nguyen, Tri C. Nguyen, Trieu Palmisano, Brian T. Pampari, Anusri Park, Chong Y. Rabinovitch, Marlene Ramste, Markus Ray, Judhajeet Roy, Kevin R. Rubio, Oriane M. Schaepe, Julia M. Schnitzler, Gavin Schreiber, Jacob Sharma, Disha Sheth, Maya U. Shi, Huitong Singh, Vasundhara Sinha, Riya Steinmetz, Lars M. Tan, Jason Tan, Anthony Tycko, Josh Valbuena, Raeline C. Pour Amiri, Valeh Valiollah van Kooten, Mariëlle J.F.M. Vaughan-Jackson, Alun Venida, Anthony Weldy, Chad S. Yao, David Zeng, Tony Zhou, Ronghao Vidal, Marc Calderw Department of Genome Sciences University of Washington SeattleWA United States Department of Bioengineering and Therapeutic Sciences Institute for Human Genetics University of California San Francisco San FranciscoCA United States Institute of Human Genetics University Medical Center Schleswig-Holstein University of Lübeck Lübeck23562 Germany Exploratory Diagnostic Sciences Berlin Institute of Health Charité-Universitätsmedizin Berlin Berlin10117 Germany Brotman Baty Institute for Precision Medicine SeattleWA United States Center of immunotherapy and Immunity Seattle Children's Research Institute SeattleWA United States Bioinformatics Division WEHI ParkvilleVIC Australia Human Genome Sequencing Center Baylor College of Medicine HoustonTX United States Department of Laboratory Medicine and Pathology University of Washington SeattleWA United States Department of Genetics Stanford University School of Medicine StanfordCA United States Basic Science and Engineering Initiative Stanford Children’s Health Betty Irene Moore Children’s Heart Center StanfordCA United States The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease Broad Institute of MIT and Harvard CambridgeMA United States Division of Cardiovascular Medicine School of Medicine Stanford University United States Department of Computer Science Stanford University School of Medicine StanfordCA United States Institute for Computational and Mathematical Engineering Stanford University StanfordCA United States Department of Pediatrics Stanford University School of Medicine StanfordCA United States Institute for Stem Cell Biology and Regenerative Medicine Stanford University School of Medicine StanfordCA United States Division of Pediatric Cardiology Cardiovascular Institute Stanford University School of Medicine Stanford University United States Genome Biology Unit Heidelberg Germany Department of Biology Stanford University StanfordCA United States Stanford Genome Techn

Our genomes influence nearly every aspect of human biology from molecular and cellular functions to phenotypes in health and disease. Human genetics studies have now associated hundreds of thousands of differences in our DNA sequence ("genomic variation") with disease risk and other phenotypes, many of which could reveal novel mechanisms of human biology and uncover the basis of genetic predispositions to diseases, thereby guiding the development of new diagnostics and therapeutics. Yet, understanding how genomic variation alters genome function to influence phenotype has proven challenging. To unlock these insights, we need a systematic and comprehensive catalog of genome function and the molecular and cellular effects of genomic variants. Toward this goal, the Impact of Genomic Variation on Function (IGVF) Consortium will combine approaches in single-cell mapping, genomic perturbations, and predictive modeling to investigate the relationships among genomic variation, genome function, and phenotypes. Through systematic comparisons and benchmarking of experimental and computational methods, we aim to create maps across hundreds of cell types and states describing how coding variants alter protein activity, how noncoding variants change the regulation of gene expression, and how both coding and noncoding variants may connect through gene regulatory and protein interaction networks. These experimental data, computational predictions, and accompanying standards and pipelines will be integrated into an open resource that will catalyze community efforts to explore genome function and the impact of genetic variation on human biology and disease across populations. © 2023, CC BY.

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Causes of blindness and vision impairment in 2020 and trends over 30 years, and prevalence of avoidable blindness in relation to VISION 2020: the Right to Sight: an analysis for the Global Burden of Disease Study (vol 2, pg 144, 2021)

引用

LANCET GLOBAL HEALTH 2021年第4期9卷 E408-E408页

作者： Steinmetz, Jaimie D. Vision and Eye Research Institute Anglia Ruskin University Cambridge United Kingdom Biomedical Informatics Seoul National University Hospital Seoul South Korea Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Institute of Health Services Research Yonsei University Seoul South Korea Department of Ophthalmology University of Washington Seattle WA United States Department of Mathematics Imperial College London London United Kingdom WHO Collaborating Centre for Public Health Education and Training Imperial College London London United Kingdom Department of Primary Care and Public Health Imperial College London London United Kingdom School of Population and Global Health University of Melbourne Carlton VIC Australia School of Optometry and Vision Science UNSW Sydney NSW Australia Brien Holden Vision Institute Sydney Australia Department of Ophthalmology University of Adelaide Adelaide SA Australia Department of Parasitology and Mycology Jahrom University of Medical Sciences Jahrom Iran Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Ophthalmic Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Department of Ophthalmology Shahid Beheshti University of Medical Sciences Tehran Iran Research Institute for Endocrine Sciences Shahid Beheshti University of Medical Sciences Tehran Iran Ophthalmic Epidemiology Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Health Services Management Department Qazvin University of Medical Sciences Qazvin Iran Department of Systems Populations and Leadership University of Michigan Ann Arbor MI United States Department of Medicine Sofia Ismail Memorial Medical Centre Bogura Bangladesh The Fred Hollows Foundation Sydney NSW Australia Berhan Public Health & Eye Care Consultancy Addis A

Hospital El Salvador: a novel paradigm of intensive care in response to COVID-19 in central America. Lancet Glob Health 2021;9: e241?42?In this Comment, the conflict of interest statement should have included the following: ?By virtue of their roles within a public hospital or the Ministry of Health, MB, LC, WH, and XS are government employees. The findings and conclusions in the Comment are only those of the authors.? This correction has been made as of Feb 26, 2021.

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Mycorrhizal symbioses and tree diversity in global forest communities

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science Advances 2025年第24期11卷 eadt5743页

作者： Feng Jiang Xucai Pu Bernhard Schmid Peter B. Reich Jingjing Liang Akane O. Abbasi Jesús Aguirre-Gutiérrez Angelica Maria Almeyda Zambrano Jan Altman Juan Gabriel Álvarez-González Luciana F. Alves Bienvenu H. K. Amani Christian Ammer Gerardo A. Aymard Naveen Babu Kanda Meredith L. Bastian Jean-Francois Bastin Marijn Bauters Pascal Boeckx Svetlana N. Bondarchuk Alexander Bondarev Francis Q. Brearley Sophie Brennan Jaime Briseño-Reyes Eben N. Broadbent Goran Češljar Han Y. H. Chen Chelsea Chisholm WookJin Choi Emil Cienciala Connie J. Clark Alessio Collalti José Javier Corral-Rivas Javid Ahmad Dar Selvadurai Dayanandan Sergio de-Miguel Ashaq Ahmad Dar Géraldine Derroire Ilija Djordjevic Tran Van Do Jiří Doležal Aurélie Dourdain Teresa Eyre Adandé Belarmain Fandohan Lorenzo Frizzera Roberto Cazzolla Gatti Damiano Gianelle M. Socorro González Elizondo Elisa Grieco David J. Harris Andy Hector Bruno Hérault Cang Hui Nobuo Imai Andrzej M. Jagodziński Chengjun Ji Lin Jiang Carlos A. Joly Viktor N. Karminov Kuswata Kartawinata Justin N. Kassi Elizabeth Kearsley Gunnar Keppel Mohammed Latif Khan Carine Klauberg Kirill A. Korznikov Subashree Kothandaraman Florian Kraxner Leonid Krivobokov Dmitry Kucher Amit Kumar Anna Kvashnina Gaia Vaglio Laurin Rodrigo Vieira Leite Moses B. Libalah Ekaterina S. Lonkina Huicui Lu Shan Luo Yuan Luo Emma Mackintosh Andrew R. Marshall Rodolfo Vásquez Martínez Radim Matula William McDonald Ayyappan Narayanan María Guadalupe Nava-Miranda Jagadeesan Naveenkumar Abel Monteagudo Mendoza Stanisław Miścicki Tatyana Moskalyuk Liudmila Mukhortova Sharif A. Mukul Gert-Jan Nabuurs Victor J. Neldner Radovan Nevenic Anny E. N’Guessan Michael Ngugi Alain Paquette Elena I. Parfenova Marc Parren Narayanaswamy Parthasarathy Pablo L. Peri Sebastian Pfautsch Maria T. F. Piedade Galina Polyakova Axel Dalberg Poulsen John R. Poulsen Hans Pretzsch Mirco Rodeghiero Ervan Rutishauser Purabi Saikia Philippe Saner Dmitry Schepaschenko Jochen Schöngart Eric B. Searle Douglas Sheil Zehao Shen Stephanie Shooner Anatoly Sh Institute of Ecology and State Key Laboratory for Vegetation Structure Function and Construction (VegLab) College of Urban and Environmental Sciences Peking University Beijing China. Remote Sensing Laboratories Department of Geography University of Zürich Zürich Switzerland. Department of Forest Resources University of Minnesota St Paul MN 55108 USA. Hawkesbury Institute for the Environment Western Sydney University Penrith New South Wales Australia. Institute for Global Change Biology and School for Environment and Sustainability University of Michigan Ann Arbor MI 48109 USA. Forest Advanced Computing and Artificial Intelligence Laboratory (FACAI) Department of Forestry and Natural Resources Purdue University West Lafayette IN USA. Environmental Change Institute School of Geography and the Environment University of Oxford Oxford UK. Leverhulme Centre for Nature Recovery University of Oxford Oxford UK OX13QY. Spatial Ecology and Conservation (SPEC) Lab Center for Latin American Studies University of Florida Gainesville FL 32611 USA. Institute of Botany of the Czech Academy of Sciences Třeboň Czech Republic. Faculty of Forestry and Wood Sciences Czech University of Life Sciences Prague Czech Republic. Departamento de Ingeniería Agroforestal Universidad de Santiago de Compostela Lugo Spain. Center for Tropical Research Institute of the Environment and Sustainability University of California Los Angeles Los Angeles CA 90095 USA. Université Jean Lorougnon Guédé Unité de Formation et de Recherche en Agroforesterie BP 150 Daloa Ivory Coast. Université Nangui Abrogoua Unité de Formation et de Recherche en Sciences de la Nature 02 BP 801 Abidjan 02 Laboratoire d’Écologie et du Développement durable (LEDD) Abidjian Ivory Coast. Silviculture and Forest Ecology Georg August-University of Göttingen Göttingen Germany. UNELLEZ-Guanare Programa de Ciencias del Agro y el Mar Herbario Universitario (PORT) Portuguesa Venezuela. Jardín Botánico de Bogotá José Cele

Unraveling the mechanisms underlying the maintenance of species diversity is a central pursuit in ecology. It has been hypothesized that ectomycorrhizal (EcM) in contrast to arbuscular mycorrhizal fungi can reduce tree species diversity in local communities, which remains to be tested at the global scale. To address this gap, we analyzed global forest inventory data and revealed that the relationship between tree species richness and EcM tree proportion varied along environmental gradients. Specifically, the relationship is more negative at low latitudes and in moist conditions but is unimodal at high latitudes and in arid conditions. The negative association of EcM tree proportion on species diversity at low latitudes and in humid conditions is likely due to more negative plant-soil microbial interactions in these regions. These findings extend our knowledge on the mechanisms shaping global patterns in plant species diversity from a belowground view.

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Social and moral psychology of COVID-19 across 69 countries

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Scientific data 2023年第1期10卷 272页

作者： Flavio Azevedo Tomislav Pavlović Gabriel G Rêgo F Ceren Ay Biljana Gjoneska Tom W Etienne Robert M Ross Philipp Schönegger Julián C Riaño-Moreno Aleksandra Cichocka Valerio Capraro Luca Cian Chiara Longoni Ho Fai Chan Jay J Van Bavel Hallgeir Sjåstad John B Nezlek Mark Alfano Michele J Gelfand Michèle D Birtel Aleksandra Cislak Patricia L Lockwood Koen Abts Elena Agadullina John Jamir Benzon Aruta Sahba Nomvula Besharati Alexander Bor Becky L Choma Charles David Crabtree William A Cunningham Koustav De Waqas Ejaz Christian T Elbaek Andrej Findor Daniel Flichtentrei Renata Franc June Gruber Estrella Gualda Yusaku Horiuchi Toan Luu Duc Huynh Agustin Ibanez Mostak Ahamed Imran Jacob Israelashvili Katarzyna Jasko Jaroslaw Kantorowicz Elena Kantorowicz-Reznichenko André Krouwel Michael Laakasuo Claus Lamm Caroline Leygue Ming-Jen Lin Mohammad Sabbir Mansoor Antoine Marie Lewend Mayiwar Honorata Mazepus Cillian McHugh John Paul Minda Panagiotis Mitkidis Andreas Olsson Tobias Otterbring Dominic J Packer Anat Perry Michael Bang Petersen Arathy Puthillam Tobias Rothmund Hernando Santamaría-García Petra C Schmid Drozdstoy Stoyanov Shruti Tewari Bojan Todosijević Manos Tsakiris Hans H Tung Radu G Umbres Edmunds Vanags Madalina Vlasceanu Andrew Vonasch Meltem Yucel Yucheng Zhang Mohcine Abad Eli Adler Narin Akrawi Hamza Alaoui Mdarhri Hanane Amara David M Amodio Benedict G Antazo Matthew Apps Mouhamadou Hady Ba Sergio Barbosa Brock Bastian Anton Berg Maria P Bernal-Zárate Michael Bernstein Michał Białek Ennio Bilancini Natalia Bogatyreva Leonardo Boncinelli Jonathan E Booth Sylvie Borau Ondrej Buchel C Daryl Cameron Chrissie F Carvalho Tatiana Celadin Chiara Cerami Hom Nath Chalise Xiaojun Cheng Kate Cockcroft Jane Conway Mateo Andres Córdoba-Delgado Chiara Crespi Marie Crouzevialle Jo Cutler Marzena Cypryańska Justyna Dabrowska Michael A Daniels Victoria H Davis Pamala N Dayley Sylvain Delouvée Ognjan Denkovski Guillaume Dezecache Nathan A Dhaliwal Alelie B Diato Roberto Di Paolo Marianna Drosinou Uwe Dulleck Jānis Ekmanis Department of Psychology University of Cambridge Cambridge England. fa441@cam.ac.uk. Institute of Communication Science Friedrich-Schiller University Jena Jena Germany. fa441@cam.ac.uk. Institute of Social Sciences Ivo Pilar Zagreb Croatia. Social and Cognitive Neuroscience Laboratory Mackenzie Presbyterian University São Paulo Brazil. Department of Economics Norwegian School of Economics Bergen Norway. Telenor Research Oslo Norway. Macedonian Academy of Sciences and Arts Skopje Republic of North Macedonia. Kieskompas - Election Compass Amsterdam Netherlands. Department of Political Science & Annenberg School for Communication University of Pennsylvania Philadelphia PA USA. Department of Psychology Macquarie University Sydney NSW Australia. Department of Philosophy University of St Andrews St Andrews Scotland. School of Economics and Finance University of St Andrews St Andrews Scotland. Medicine Faculty Cooperative University of Colombia Villavicencio Colombia. Department of Bioethics El Bosque University Bogotá Colombia. School of Psychology University of Kent Canterbury England. Department of Economics Middlesex University London London England. Darden School of Business University of Virginia Charlottesville VA USA. Questrom School of Business Boston University Boston MA USA. School of Economics and Finance Queensland University of Technology Brisbane QLD Australia. Center for Behavioural Economics Society and Technology Queensland University of Technology Brisbane QLD Australia. Department of Psychology and Neural Science New York University New York NY USA. Department of Strategy and Management Norwegian School of Economics Bergen Norway. SWPS University of Social Sciences and Humanities Warsaw Poland. Department of Psychological Sciences College of William and Mary Williamsburg VA USA. Department of Philosophy Macquarie University Sydney NSW Australia. Stanford Graduate School of Business Stanford University Stanford CA USA.

The COVID-19 pandemic has affected all domains of human life, including the economic and social fabric of societies. One of the central strategies for managing public health throughout the pandemic has been through persuasive messaging and collective behaviour change. To help scholars better understand the social and moral psychology behind public health behaviour, we present a dataset comprising of 51,404 individuals from 69 countries. This dataset was collected for the International Collaboration on Social & Moral Psychology of COVID-19 project (ICSMP COVID-19). This social science survey invited participants around the world to complete a series of moral and psychological measures and public health attitudes about COVID-19 during an early phase of the COVID-19 pandemic (between April and June 2020). The survey included seven broad categories of questions: COVID-19 beliefs and compliance behaviours; identity and social attitudes; ideology; health and well-being; moral beliefs and motivation; personality traits; and demographic variables. We report both raw and cleaned data, along with all survey materials, data visualisations, and psychometric evaluations of key variables.

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