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arXiv 2023年

作者： Eastman, Peter Galvelis, Raimondas Peláez, Raúl P. Abreu, Charlles R.A. Farr, Stephen E. Gallicchio, Emilio Gorenko, Anton Henry, Michael M. Hu, Frank Huang, Jing Krämer, Andreas Michel, Julien Mitchell, Joshua A. Pande, Vijay S. Rodrigues, João P.G.L.M. Rodriguez-Guerra, Jaime Simmonett, Andrew C. Singh, Sukrit Swails, Jason Turner, Philip Wang, Yuanqing Zhang, Ivy Chodera, John D. De Fabritiis, Gianni Markland, Thomas E. Department of Chemistry Stanford University StanfordCA94305 United States Acellera Labs C Dr Trueta 183 Barcelona08005 Spain C Dr. Aiguader 88 Barcelona08003 Spain Chemical Engineering Department School of Chemistry Federal University of Rio de Janeiro Rio de Janeiro68542 Brazil Redesign Science Inc. 180 Varick St. New YorkNY10014 United States EaStCHEM School of Chemistry University of Edinburgh EH9 3FJ United Kingdom Department of Chemistry and Biochemistry Brooklyn College The City University of New York NY United States Ph.D. Program in Chemistry Ph.D. Program in Biochemistry The Graduate Center of the City University of New York New YorkNY United States Stream HPC Koningin Wilhelminaplein 1 - 40601 Amsterdam1062 HG Netherlands Computational and Systems Biology Program Sloan Kettering Institute Memorial Sloan Kettering Cancer Center New YorkNY10065 United States Key Laboratory of Structural Biology of Zhejiang Province School of Life Sciences Westlake University 18 Shilongshan Road Zhejiang Hangzhou310024 China Department of Mathematics and Computer Science Freie Universität Berlin Arnimallee 12 Berlin14195 Germany The Open Force Field Initiative Open Molecular Software Foundation DavisCA95616 United States Andreessen Horowitz 2865 Sand Hill Rd Menlo ParkCA94025 United States Department of Structural Biology Stanford University StanfordCA94305 United States Charité Universitätsmedizin Berlin In silico Toxicology and Structural Bioinformatics Virchowweg 6 Berlin10117 Germany Laboratory of Computational Biology National Heart Lung and Blood Institute National Institutes of Health BethesdaMD20892 United States Entos Inc. 9310 Athena Circle La Jolla CA92037 United States College of Engineering Virginia Polytechnic Institute State University BlacksburgVA24061 United States Simons Center for Computational Physical Chemistry Center for Data Science New York University 24 Waverly Place New YorkNY10004 United States T

Machine learning plays an important and growing role in molecular simulation. The newest version of the OpenMM molecular dynamics toolkit introduces new features to support the use of machine learning potentials. Arbitrary PyTorch models can be added to a simulation and used to compute forces and energy. A higher-level interface allows users to easily model their molecules of interest with general purpose, pretrained potential functions. A collection of optimized CUDA kernels and custom PyTorch operations greatly improves the speed of simulations. We demonstrate these features on simulations of cyclin-dependent kinase 8 (CDK8) and the green fluorescent protein (GFP) chromophore in water. Taken together, these features make it practical to use machine learning to improve the accuracy of simulations at only a modest increase in cost. Copyright © 2023, The Authors. All rights reserved.

关键词： Machine learning

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Worldwide Soundscapes: A Synthesis of Passive Acoustic Monitoring Across Realms

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Global Ecology and Biogeography 2025年第5期34卷

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

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

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

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Polygenic enrichment distinguishes disease associations of individual cells in single-cell RNA-seq data

Research Square

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Research Square 2021年

作者： Zhang, Martin Jinye Hou, Kangcheng Pasaniuc, Bogdan Price, Alkes L. Dey, Kushal K. Jagadeesh, Karthik A. Weinand, Kathryn Sakaue, Saori Taychameekiatchai, Aris Rao, Poorvi Pisco, Angela Oliveira Zou, James Wang, Bruce Gandal, Michael Raychaudhuri, Soumya Harvard University United States Osaka University Japan Department of Epidemiology Harvard T.H. Chan School of Public Health BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard CambridgeMA United States Bioinformatics Interdepartmental Program University of California Los Angeles Los AngelesCA United States Department of Pathology and Laboratory Medicine David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Department of Computational Medicine David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Center for Data Sciences Brigham and Women’s Hospital BostonMA United States Division of Genetics Department of Medicine Brigham and Women’s Hospital Harvard Medical School BostonMA United States Division of Rheumatology Inflammation and Immunity Department of Medicine Brigham and Women’s Hospital Harvard Medical School BostonMA United States Department of Biomedical Informatics Harvard Medical School BostonMA United States Department of Medicine and Liver Center University of California San Francisco San FranciscoCA United States Developmental and Stem Cell Biology Graduate Program University of California San Francisco San FranciscoCA United States Chan Zuckerberg Biohub San FranciscoCA United States Department of Electrical Engineering Stanford University Palo AltoCA United States Department of Biomedical Data Science Stanford University Palo AltoCA United States Department of Psychiatry David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Program in Neurobehavioral Genetics Semel Institute David Geffen School of Medicine University of California Los Angeles Los AngelesCA United States Versus Arthritis Centre for Genetics and Genomic

Gene expression at the individual cell-level resolution, as quantified by single-cell RNA-sequencing (scRNA-seq), can provide unique insights into the pathology and cellular origin of diseases and complex traits. Here, we introduce single-cell Disease Relevance Score (scDRS), an approach that links scRNA-seq with polygenic risk of disease at individual cell resolution;scDRS identifies individual cells that show excess expression levels for genes in a disease-specific gene set constructed from GWAS data. We determined via simulations that scDRS is well-calibrated and powerful in identifying individual cells associated to disease. We applied scDRS to GWAS data from 74 diseases and complex traits (average N =341K) in conjunction with 16 scRNA-seq data sets spanning 1.3 million cells from 31 tissues and organs. At the cell type level, scDRS broadly recapitulated known links between classical cell types and disease, and also produced novel biologically plausible findings. At the individual cell level, scDRS identified subpopulations of disease-associated cells that are not captured by existing cell type labels, including subpopulations of CD4+ T cells associated with inflammatory bowel disease, partially characterized by their effector-like states;subpopulations of hippocampal CA1 pyramidal neurons associated with schizophrenia, partially characterized by their spatial location at the proximal part of the hippocampal CA1 region;and subpopulations of hepatocytes associated with triglyceride levels, partially characterized by their higher ploidy levels. At the gene level, we determined that genes whose expression across individual cells was correlated with the scDRS score (thus reflecting co-expression with GWAS disease genes) were strongly enriched for gold-standard drug target and Mendelian disease genes. © 2021, CC BY.

关键词： RNA

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26th Annual computational Neuroscience Meeting (CNS*2017): Part 3 Antwerp, Belgium. 15-20 July 2017 Abstracts

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BMC NEUROSCIENCE 2017年第SUPPL 1期18卷 95-176页

作者： [Anonymous] Department of Neuroscience Yale University New Haven CT 06520 USA Department Physiology & Pharmacology SUNY Downstate Brooklyn NY 11203 USA NYU School of Engineering 6 MetroTech Center Brooklyn NY 11201 USA Departament de Matemàtica Aplicada Universitat Politècnica de Catalunya Barcelona 08028 Spain Institut de Neurobiologie de la Méditerrannée (INMED) INSERM UMR901 Aix-Marseille Univ Marseille France Center of Neural Science New York University New York NY USA Aix-Marseille Univ INSERM INS Inst Neurosci Syst Marseille France Laboratoire de Physique Théorique et Modélisation CNRS UMR 8089 Université de Cergy-Pontoise 95300 Cergy-Pontoise Cedex France Department of Mathematics and Computer Science ENSAT Abdelmalek Essaadi’s University Tangier Morocco Laboratory of Natural Computation Department of Information and Electrical Engineering and Applied Mathematics University of Salerno 84084 Fisciano SA Italy Department of Medicine University of Salerno 84083 Lancusi SA Italy Dipartimento di Fisica Università degli Studi Aldo Moro Bari and INFN Sezione Di Bari Italy Data Analysis Department Ghent University Ghent Belgium Coma Science Group University of Liège Liège Belgium Cruces Hospital and Ikerbasque Research Center Bilbao Spain BIOtech Department of Industrial Engineering University of Trento and IRCS-PAT FBK 38010 Trento Italy Department of Data Analysis Ghent University Ghent 9000 Belgium The Wellcome Trust Centre for Neuroimaging University College London London WC1N 3BG UK Department of Electronic Engineering NED University of Engineering and Technology Karachi Pakistan Blue Brain Project École Polytechnique Fédérale de Lausanne Lausanne Switzerland Departement of Mathematics Swansea University Swansea Wales UK Laboratory for Topology and Neuroscience at the Brain Mind Institute École polytechnique fédérale de Lausanne Lausanne Switzerland Institute of Mathematics University of Aberdeen Aberdeen Scotland UK Department of Integrativ

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Author Correction: Experimental and real-world evidence supporting the computational repurposing of bumetanide for APOE4-related Alzheimer's disease

Nature aging

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Nature aging 2021年第12期1卷 1202页

作者： Alice Taubes Phil Nova Kelly A Zalocusky Idit Kosti Mesude Bicak Misha Y Zilberter Yanxia Hao Seo Yeon Yoon Tomiko Oskotsky Silvia Pineda Bin Chen Emily A Aery Jones Krishna Choudhary Brian Grone Maureen E Balestra Fayzan Chaudhry Ishan Paranjpe Jessica De Freitas Nicole Koutsodendris Nuo Chen Celine Wang William Chang Alice An Benjamin S Glicksberg Marina Sirota Yadong Huang Gladstone Institute of Neurological Disease Gladstone Institutes San Francisco CA USA. Biomedical Sciences Graduate Program University of California San Francisco CA USA. Gladstone Center for Translational Advancement Gladstone Institutes San Francisco CA USA. Department of Neurology University of California San Francisco CA USA. Bakar Computational Health Sciences Institute University of California San Francisco CA USA. Department of Pediatrics University of California San Francisco CA USA. Hasso Plattner Institute for Digital Health at Mount Sinai Icahn School of Medicine at Mount Sinai New York NY USA. Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA. Department of Surgery University of California San Francisco CA USA. Gladstone Institute of Data Science and Biotechnology Gladstone Institutes San Francisco CA USA. Development and Stem Cell Biology Graduate Program University of California San Francisco CA USA. Bakar Computational Health Sciences Institute University of California San Francisco CA USA. marina.sirota@ucsf.edu. Department of Pediatrics University of California San Francisco CA USA. marina.sirota@ucsf.edu. Gladstone Institute of Neurological Disease Gladstone Institutes San Francisco CA USA. yadong.huang@gladstone.ucsf.edu. Biomedical Sciences Graduate Program University of California San Francisco CA USA. yadong.huang@gladstone.ucsf.edu. Gladstone Center for Translational Advancement Gladstone Institutes San Francisco CA USA. yadong.huang@gladstone.ucsf.edu. Department of Neurology University of California San Francisco CA USA. yadong.huang@gladstone.ucsf.edu. Department of Pathology University of California San Francisco CA USA. yadong.huang@gladstone.ucsf.edu.

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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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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

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NATURE GENETICS 2023年第3期55卷 519-520页

作者： Fernandez-Rozadilla, Ceres Timofeeva, Maria Chen, Zhishan Law, Philip Thomas, Minta Schmit, Stephanie Diez-Obrero, Virginia Hsu, Li Fernandez-Tajes, Juan Palles, Claire Sherwood, Kitty Briggs, Sarah Svinti, Victoria Donnelly, Kevin Farrington, Susan Blackmur, James Vaughan-Shaw, Peter Shu, Xiao-ou Long, Jirong Cai, Qiuyin Guo, Xingyi Lu, Yingchang Broderick, Peter Studd, James Huyghe, Jeroen Harrison, Tabitha Conti, David Dampier, Christopher Devall, Mathew Schumacher, Fredrick Melas, Marilena Rennert, Gad Obon-Santacana, Mireia Martin-Sanchez, Vicente Moratalla-Navarro, Ferran Oh, Jae Hwan Kim, Jeongseon Jee, Sun Ha Jung, Keum Ji Kweon, Sun-Seog Shin, Min-Ho Shin, Aesun Ahn, Yoon-Ok Kim, Dong-Hyun Oze, Isao Wen, Wanqing Matsuo, Keitaro Matsuda, Koichi Tanikawa, Chizu Ren, Zefang Gao, Yu-Tang Jia, Wei-Hua Hopper, John Jenkins, Mark Win, Aung Ko Pai, Rish Figueiredo, Jane Haile, Robert Gallinger, Steven Woods, Michael Newcomb, Polly Duggan, David Cheadle, Jeremy Kaplan, Richard Maughan, Timothy Kerr, Rachel Kerr, David Kirac, Iva Bohm, Jan Mecklin, Lukka-Pekka Jousilahti, Pekka Knekt, Paul Aaltonen, Lauri Rissanen, Harri Pukkala, Eero Eriksson, Johan Cajuso, Tatiana Hanninen, Ulrika Kondelin, Johanna Palin, Kimmo Tanskanen, Tomas Renkonen-Sinisalo, Laura Zanke, Brent Mannisto, Satu Albanes, Demetrius Weinstein, Stephanie Ruiz-Narvaez, Edward Palmer, Julie Buchanan, Daniel Platz, Elizabeth Visvanathan, Kala Ulrich, Cornelia Siegel, Erin Brezina, Stefanie Gsur, Andrea Campbell, Peter Chang-Claude, Jenny Hoffmeister, Michael Brenner, Hermann Slattery, Martha Potter, John Tsilidis, Konstantinos Schulze, Matthias Gunter, Marc Murphy, Neil Castells, Antoni Castellvi-Bel, Sergi Moreira, Leticia Arndt, Volker Shcherbina, Anna Stern, Mariana Pardamean, Bens Bishop, Timothy Giles, Graham Southey, Melissa Idos, Gregory McDonnell, Kevin Abu-Ful, Zomoroda Greenson, Joel Shulman, Katerina Lejbkowicz, Flavio Offit, Kenneth Su, Yu-Ru Steinfelder, Robert Keku, Temitope van Guelpen, Bethany Hudson, Thomas Hampel, Heather Pearlman, Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Division of Genetics and Epidemiology Institute of Cancer Research London UK Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA Genomic Medicine Institute Cleveland Clinic Cleveland OH USA Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain Department of Biostatistics School of Public Health University of Washington Seattle WA USA Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK Department of Public Health Richard Doll Building University of Oxford Oxford UK Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA Department of Populat

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

关键词： Colorectal cancer Epigenomics Genome-wide association studies Transcriptomics

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease Study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors Study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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494P Evaluation of transcriptome forward computational strategies to improve molecular diagnosis in rare pediatric neuromuscular disease

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Neuromuscular Disorders 2024年 43卷 104441.331-104441.331页

作者： Silverstein, S. Ganapathy, K. Donkervoort, S. Moy, J. Uapinyoying, B. Gorokhova, S. Ganesh, V. Weisburd, B. Orbach, R. Foley, A. Mohammadi, P. Adams, D. Bonnemann, C. Neuromuscular and Neurogenetics Disorders of Childhood Section NINDS NIH Bethesda USA Undiagnosed Diseases Program NIH Bethesda USA Rutgers New Jersey Medical School Newark USA Department of Integrative Structural and Computational Biology Scripps Research Institute La Jolla USA Graduate College of Computing and Data Science Boston University Boston USA Center for Genetic Medicine Research Children's Research Institute Children's National Hospital Washington DC USA Aix Marseille Univ INSERM MMG Marseille France Department of Medical Genetics Timone Children's Hospital Marseille France The Broad Institute of MIT and Harvard Boston USA Center for Immunity and Immunotherapies Seattle Children's Research Institute Seattle USA Department of Pediatrics University of Washington School of Medicine Seattle USA Department of Genome Sciences University of Washington Seattle USA

Pediatric neuromuscular diseases are a genetically and clinically heterogenous group of disorders of which 30-60% remain molecularly undiagnosed even after evaluation with exome or genome sequencing. Estimates for added diagnostic benefit of transcriptomic sequencing range between 7-32% across different disease groups. Recently, open-source computational tools designed to systematically survey transcriptomic sequencing data for aberrant events have become available. In this study we assess the sensitivity of DROP (OUTRIDER, FRASER and MAE), MINTIE, LeafcutterMD, and ANEVA-H to detect known outliers in pediatric neuromuscular cohorts in order to identify the optimal set of tools for diagnostic use. Each tool selected utilizes a different statistical strategy and experimental design geared for rare disease. Tools were run on three transcriptome cohorts from the NINDS Neuromuscular and Neurogenetic Diseases of Childhood Section: muscle tissue (n=71), cycloheximide treated fibroblasts (n=79) and untreated fibroblasts (n=37). For splicing tools, MINTIE is the best performing tool (recall rate = 9/21, 42%), followed by FRASER (recall rate = 16/41, 36%), then LeafcutterMD (recall rate = 0/41, 0%). For expression outliers, OUTRIDER detects 6% of true positives (1/15), while the addition of healthy GTEx controls does not improve detection. For monoallelic expression, MAE and ANEVA-H will be compared. Additional evaluations to identify the optimal RNA library preparation methodology for these tools is also in progress. Thus far, OUTRIDER yielded one new candidate diagnosis of TRIP4 related disease. Analysis for new candidate variants is ongoing. Based on these results, and those of ongoing experiments, we will provide recommendations for the use of these tools in diagnostic pipelines for rare pediatric neuromuscular disease.

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2022年第5期30卷 630-631页

作者： Dareng, Eileen O. Tyrer, Jonathan P. Barnes, Daniel R. Jones, Michelle R. Yang, Xin Aben, Katja K. H. Adank, Muriel A. Agata, Simona Andrulis, Irene L. Anton-Culver, Hoda Antonenkova, Natalia N. Aravantinos, Gerasimos Arun, Banu K. Augustinsson, Annelie Balmana, Judith Bandera, Elisa V. Barkardottir, Rosa B. Barrowdale, Daniel Beckmann, Matthias W. Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina Bernardini, Marcus Q. Bjorge, Line Black, Amanda Bogdanova, Natalia V. Bonanni, Bernardo Borg, Ake Brenton, James D. Budzilowska, Agnieszka Butzow, Ralf Buys, Saundra S. Cai, Hui Caligo, Maria A. Campbell, Ian Cannioto, Rikki Cassingham, Hayley Chang-Claude, Jenny Chanock, Stephen J. Chen, Kexin Chiew, Yoke-Eng Chung, Wendy K. Claes, Kathleen B. M. Colonna, Sarah Cook, Linda S. Couch, Fergus J. Daly, Mary B. Dao, Fanny Davies, Eleanor de la Hoya, Miguel de Putter, Robin Dennis, Joe DePersia, Allison Devilee, Peter Diez, Orland Ding, Yuan Chun Doherty, Jennifer A. Domchek, Susan M. Dork, Thilo du Bois, Andreas Durst, Matthias Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Evans, Gareth D. Fasching, Peter A. Flanagan, James M. Fortner, Renee T. Machackova, Eva Friedman, Eitan Ganz, Patricia A. Garber, Judy Gensini, Francesca Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goodman, Marc T. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute Hansen, Thomas V. O. Harris, Holly R. Hartman, Mikael Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Hopper, John L. Huang, Ruea-Yea Huff, Chad Hulick, Peter J. Huntsman, David G. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jensen, Allan Johannsson, Oskar Th. John, Esther M. Jones, Michael E. Kang, Daehee Karlan, Beth Y. Karnezis, Anthony Kelemen, Linda E. Khusnutdinova, Elza Kiemeney, Lambertus A. Kim, Byoung-Gie Kjaer, Susanne K. Komenaka, Ian Kupryjanczyk, Jolanta Kurian, Allison W. Kwong, Ava Lambrechts, Diether Larson, Melissa C. Lazaro, Conxi L University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands The Netherlands Cancer Institute—Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands Veneto Institute of Oncology IOV—IRCCS Immunology and Molecular Oncology Unit Padua Italy Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada University of Toronto Department of Molecular Genetics Toronto ON Canada University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus ‘Agii Anargiri’ Cancer Hospital Athens Greece University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden Vall d’Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain University Hospital of Vall d’Hebron Department of Medical Oncology Barcelona Spain Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA Landspitali University Hospital Department of Pathology Reykjavik Iceland University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany Vanderbilt University School of Medicine Division of Epidemiology Department

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

关键词： Clinical genetics Genetic markers Risk factors Biomedicine general Human Genetics Bioinformatics Gene Expression Cytogenetics

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