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Publisher Correction: Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

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Nature communications 2020年第1期11卷 2891页

作者： Brandon Jew Marcus Alvarez Elior Rahmani Zong Miao Arthur Ko Kristina M Garske Jae Hoon Sul Kirsi H Pietiläinen Päivi Pajukanta Eran Halperin Bioinformatics Interdepartmental Program UCLA Los Angeles CA 90095 USA. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. Department of Computer Science School of Engineering UCLA Los Angeles CA 90095 USA. Department of Psychiatry and Biobehavioral Sciences UCLA Los Angeles CA 90095 USA. Obesity Research Unit Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki 00014 Finland. Obesity Center Endocrinology Abdominal Center Helsinki University Central Hospital and University of Helsinki Helsinki 00260 Finland. Bioinformatics Interdepartmental Program UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Institute for Precision Health School of Medicine UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Computer Science School of Engineering UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Anesthesiology UCLA Health Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Computational Medicine School of Medicine UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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

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NATURE 2021年第7856期592卷 E24-E24页

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

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Forecasting: theory and practice

arXiv

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arXiv 2020年

作者： Petropoulos, Fotios Apiletti, Daniele Assimakopoulos, Vassilios Babai, Mohamed Zied Barrow, Devon K. Taieb, Souhaib Ben Bergmeir, Christoph Bessa, Ricardo J. Bijak, Jakub Boylan, John E. Browell, Jethro Carnevale, Claudio Castle, Jennifer L. Cirillo, Pasquale Clements, Michael P. Cordeiro, Clara Oliveira, Fernando Luiz Cyrino de Baets, Shari Dokumentov, Alexander Ellison, Joanne Fiszeder, Piotr Franses, Philip Hans Frazier, David T. Gilliland, Michael Gönül, M. Sinan Goodwin, Paul Grossi, Luigi Grushka-Cockayne, Yael Guidolin, Mariangela Guidolin, Massimo Gunter, Ulrich Guo, Xiaojia Guseo, Renato Harvey, Nigel Hendry, David F. Hollyman, Ross Januschowski, Tim Jeon, Jooyoung Jose, Victor Richmond R. Kang, Yanfei Koehler, Anne B. Kolassa, Stephan Kourentzes, Nikolaos Leva, Sonia Li, Feng Litsiou, Konstantia Makridakis, Spyros Martin, Gael M. Martinez, Andrew B. Meeran, Sheik Modis, Theodore Nikolopoulos, Konstantinos Önkal, Dilek Paccagnini, Alessia Panagiotelis, Anastasios Panapakidis, Ioannis Pavía, Jose M. Pedio, Manuela Pedregal, Diego J. Pinson, Pierre Ramos, Patrícia Rapach, David E. Reade, J. James Rostami-Tabar, Bahman Rubaszek, Michal Sermpinis, Georgios Shang, Han Lin Spiliotis, Evangelos Syntetos, Aris A. Talagala, Priyanga Dilini Talagala, Thiyanga S. Tashman, Len Thomakos, Dimitrios Thorarinsdottir, Thordis Todini, Ezio Arenas, Juan Ramón Trapero Wang, Xiaoqian Winkler, Robert L. Yusupova, Alisa Ziel, Florian School of Management University of Bath United Kingdom Politecnico di Torino Turin Italy Forecasting and Strategy Unit School of Electrical and Computer Engineering National Technical University of Athens Greece Kedge Business School France Department of Management Birmingham Business School University of Birmingham United Kingdom Belgium Faculty of Information Technology Monash University Melbourne Australia INESC TEC – Institute for Systems and Computer Engineering Technology and Science Porto Portugal Department of Social Statistics and Demography University of Southampton United Kingdom Centre for Marketing Analytics and Forecasting Lancaster University Management School Lancaster University United Kingdom School of Mathematics and Statistics University of Glasgow United Kingdom Department of Mechanical and Industrial Engineering University of Brescia Italy Magdalen College University of Oxford United Kingdom ZHAW School of Management and Law Zurich University of Applied Sciences Switzerland ICMA Centre Henley Business School University of Reading United Kingdom Faculdade de Ciências e Tecnologia Universidade do Algarve Portugal CEAUL Faculdade de Ciências Universidade de Lisboa Portugal Brazil Department of Business Informatics and Operations Management Faculty of Economics and Business Administration Universiteit Gent Belgium Let’s Forecast Australia Faculty of Economic Sciences and Management Nicolaus Copernicus University in Torun Poland Econometric Institute Erasmus School of Economics Rotterdam Netherlands Department of Econometrics and Business Statistics Monash University Melbourne Australia SAS United States Newcastle Business School Northumbria University Newcastle upon Tyne United Kingdom Department of Statistical Sciences University of Padua Italy Darden School of Business University of Virginia United States Finance Department Bocconi University Baffi-CAREFIN Centre Milan Italy Department of Tourism and Service Management MODUL Un

Forecasting has always been at the forefront of decision making and planning. The uncertainty that surrounds the future is both exciting and challenging, with individuals and organisations seeking to minimise risks and maximise utilities. The large number of forecasting applications calls for a diverse set of forecasting methods to tackle real-life challenges. This article provides a non-systematic review of the theory and the practice of forecasting. We provide an overview of a wide range of theoretical, state-of-the-art models, methods, principles, and approaches to prepare, produce, organise, and evaluate forecasts. We then demonstrate how such theoretical concepts are applied in a variety of real-life contexts. We do not claim that this review is an exhaustive list of methods and applications. However, we wish that our encyclopedic presentation will offer a point of reference for the rich work that has been undertaken over the last decades, with some key insights for the future of forecasting theory and practice. Given its encyclopedic nature, the intended mode of reading is non-linear. We offer cross-references to allow the readers to navigate through the various topics. We complement the theoretical concepts and applications covered by large lists of free or open-source software implementations and publicly-available databases. © 2020, CC BY.

关键词： Forecasting

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Publisher Correction: MEMOTE for standardized genome-scale metabolic model testing

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Nature biotechnology 2020年第4期38卷 504页

作者： Christian Lieven Moritz E Beber Brett G Olivier Frank T Bergmann Meric Ataman Parizad Babaei Jennifer A Bartell Lars M Blank Siddharth Chauhan Kevin Correia Christian Diener Andreas Dräger Birgitta E Ebert Janaka N Edirisinghe José P Faria Adam M Feist Georgios Fengos Ronan M T Fleming Beatriz García-Jiménez Vassily Hatzimanikatis Wout van Helvoirt Christopher S Henry Henning Hermjakob Markus J Herrgård Ali Kaafarani Hyun Uk Kim Zachary King Steffen Klamt Edda Klipp Jasper J Koehorst Matthias König Meiyappan Lakshmanan Dong-Yup Lee Sang Yup Lee Sunjae Lee Nathan E Lewis Filipe Liu Hongwu Ma Daniel Machado Radhakrishnan Mahadevan Paulo Maia Adil Mardinoglu Gregory L Medlock Jonathan M Monk Jens Nielsen Lars Keld Nielsen Juan Nogales Intawat Nookaew Bernhard O Palsson Jason A Papin Kiran R Patil Mark Poolman Nathan D Price Osbaldo Resendis-Antonio Anne Richelle Isabel Rocha Benjamín J Sánchez Peter J Schaap Rahuman S Malik Sheriff Saeed Shoaie Nikolaus Sonnenschein Bas Teusink Paulo Vilaça Jon Olav Vik Judith A H Wodke Joana C Xavier Qianqian Yuan Maksim Zakhartsev Cheng Zhang Novo Nordisk Foundation Center for Biosustainability Technical University of Denmark Lyngby Denmark. Systems Biology Lab Amsterdam Institute of Molecular and Life Sciences (AIMMS) Vrije Universiteit Amsterdam Amsterdam the Netherlands. BioQUANT/COS Heidelberg University Heidelberg Germany. Ecole Polytechnique Fédérale de Lausanne Laboratory of Computational Systems Biotechnology Lausanne Switzerland. iAMB-Institute of Applied Microbiology ABBt-Aachen Biology and Biotechnology RWTH Aachen University Aachen Germany. Department of Bioengineering University of California La Jolla CA USA. Department of Chemical Engineering and Applied Chemistry University of Toronto Toronto Ontario Canada. Human Systems Biology Laboratory Instituto Nacional de Medicina Genomica & Coordinación de la Investigación Científica-Red de Apoyo a la Investigación UNAM Mexico City Mexico. Institute for Systems Biology Seattle WA USA. Computational Systems Biology of Infection and Antimicrobial-Resistant Pathogens Institute for Biomedical Informatics (IBMI) Tübingen Germany. Department of Computer Science University of Tübingen Tübingen Germany. German Center for Infection Research (DZIF) partner site Tübingen Tübingen Germany. Australian Institute for Bioengineering and Nanotechnology The University of Queensland Brisbane Queensland Australia. Argonne National Laboratory Lemont IL USA. Analytical Biosciences Division of Systems Biomedicine and Pharmacology Leiden Academic Centre for Drug Research Leiden University Leiden the Netherlands. Department of Systems Biology Centro Nacional de Biotecnología Consejo Superior de Investigaciones Científicas (CNB-CSIC) Madrid Spain. Centro de Biotecnología y Genómica de Plantas (CBGP UPM-INIA) Universidad Politécnica de Madrid (UPM) - Instituto Nacional de Investigación y Tecnología Agraria y Alimentaria (INIA) Madrid Spain. Department of Animal and Aquacultural Sciences Faculty of Biosciences Norwegian University of Life Sciences Oslo Norway

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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AtLAST Science Overview Report

arXiv

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arXiv 2024年

作者： Booth, Mark Klaassen, Pamela Cicone, Claudia Mroczkowski, Tony Cordiner, Martin A. Di Mascolo, Luca Johnstone, Doug van Kampen, Eelco Lee, Minju M. Liu, Daizhong Orlowski-Scherer, John Saintonge, Amélie Smith, Matthew W.L. Thelen, Alexander Wedemeyer, Sven Akiyama, Kazunori Andreon, Stefano Arzoumanian, Doris Bakx, Tom J.L.C. Bot, Caroline Bower, Geoffrey Brajša, Roman Chen, Chian-Chou da Cunha, Elisabete Eden, David Ettori, Stefano Gaches, Brandt Hatziminaoglou, Evanthia Luppe, Patricia Magnelli, Benjamin Marshall, Jonathan P. Montenegro-Montes, Francisco Miguel Niemack, Michael Nixon, Conor de Pater, Imke Perrott, Yvette Raimundo, Sandra I. Redaelli, Elena Richards, Anita Rybak, Matus Šarčević, Nikolina Semenov, Dmitry Spezzano, Silvia Srinivasan, Sundar Stanke, Thomas Andreani, Paola Beltrán, Maria T. Butler, Bryan J. Cantalupo, Sebastiano Dagostino, Miguel Chavez Duarte-Cabral, Ana Emonts, Bjorn Fletcher, Leigh Gary, Dale E. Gunar, Stanislav Hacar, Alvaro Hagedorn, Bendix Kaminski, Tomek Kirton, Fiona de Kleer, Katherine Kontar, Eduard Kuan, Yi-Jehng Lightfoot, John Lopez-Rodriguez, Enrique Lundgren, Andreas Milam, Stefanie N. Mohan, Atul Moreno, Raphael Motorina, Galina G. Moullet, Arielle Pattle, Kate Pellizzoni, Alberto Peretto, Nicolas Ramasawmy, Joanna Ricci, Claudio Rigby, Andrew J. Sánchez-Monge, Álvaro Saberi, Maryam Shimojo, Masumi Simionescu, Aurora Thompson, Mark Traficante, Alessio Vignali, Cristian White, Stephen M. UK Astronomy Technology Centre Royal Observatory Edinburgh Blackford Hill EdinburghEH9 3HJ United Kingdom Institute of Theoretical Astrophysics University of Oslo PO Box 1029 Blindern Oslo0315 Norway Karl-Schwarzschild-Strasse 2 Garching85748 Germany Astrochemistry Laboratory NASA Goddard Space Flight Center Code 691 GreenbeltMD20771 United States Laboratoire Lagrange Université Côte d’Azur Observatoire de la Côte d’Azur CNRS Blvd de l’Observatoire CS 34229 Nice06304 cedex 4 France Astronomy Unit Department of Physics University of Trieste via Tiepolo 11 Trieste34131 Italy INAF – Osservatorio Astronomico di Trieste via Tiepolo 11 Trieste34131 Italy IFPU – Institute for Fundamental Physics of the Universe Via Beirut 2 Trieste34014 Italy NRC Herzberg Astronomy and Astrophysics 5071 West Saanich Rd VictoriaBCV9E 2E7 Canada Department of Physics and Astronomy University of Victoria VictoriaBCV8P 5C2 Canada Denmark DTU-Space Technical University of Denmark Elektrovej 327 Kgs. LyngbyDK2800 Denmark Max-Planck-Institut für extraterrestrische Physik Giessenbachstrasse 1 Garching BayernD-85748 Germany Purple Mountain Observatory Chinese Academy of Sciences 10 Yuanhua Road Nanjing210008 China Department of Physics and Astronomy University of Pennsylvania 209 South 33rd Street PhiladelphiaPA19104 United States Department of Physics and Astronomy University College London Gower Street LondonWC1E 6BT United Kingdom Auf dem Hügel 69 BonnD-53121 Germany School of Physics & Astronomy Cardiff University The Parade CardiffCF24 3AA United Kingdom Division of Geological and Planetary Sciences California Institute of Technology PasadenaCA91125 United States Rosseland Centre for Solar Physics Institute of Theoretical Astrophysics University of Oslo Postboks 1029 Blindern OsloN-0315 Norway Haystack Observatory Massachusetts Institute of Technology 99 Millstone Road WestfordMA01886 United States National Astronomical Observatory of

Submillimeter and millimeter wavelengths provide a unique view of theUniverse, from the gas and dust that fills and surrounds galaxies to thechromosphere of our own Sun. Current single-dish facilities have presented atantalising view of the brightest (sub-)mm sources, and interferometers haveprovided the exquisite resolution necessary to analyse the details in smallfields, but there are still many open questions that cannot be answered withcurrent facilities. In this report we summarise the science that is guiding thedesign of the Atacama Large Aperture Submillimeter Telescope (AtLAST). Wedemonstrate how tranformational advances in topics including star formation inhigh redshift galaxies, the diffuse circumgalactic medium, Galactic ecology,cometary compositions and solar flares motivate the need for a 50m, single-dishtelescope with a 1-2 degree field of view and a new generation of highlymultiplexed continuum and spectral cameras. AtLAST will have the resolution todrastically lower the confusion limit compared to current single-dishfacilities, whilst also being able to rapidly map large areas of the sky anddetect extended, diffuse structures. Its high sensitivity and large field ofview will open up the field of submillimeter transient science by increasingthe probability of serendipitous detections. Finally, the science cases listedhere motivate the need for a highly flexible operations model capable of shortobservations of individual targets, large surveys, monitoring programmes,target of opportunity observations and coordinated observations with otherobservatories. AtLAST aims to be a sustainable, upgradeable, multipurposefacility that will deliver orders of magnitude increases in sensitivity andmapping speeds over current and planned submillimeter observatories. © 2024, CC BY.

关键词： Photons

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Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

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NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

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Detecting clinical progression from abnormal regional brain volumes at baseline in genetic frontotemporal dementia: A GENFI study

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Alzheimer's & Dementia 2021年第S1期17卷

作者： Martina Bocchetta Emily G Todd Jennifer M Nicholas Georgia Peakman David M Cash Rhian S Convery Lucy L Russell David L Thomas Juan Eugenio Iglesias John C van Swieten Lize C. Jiskoot Harro Seelaar Barbara Borroni Daniela Galimberti Raquel Sanchez-Valle Robert Laforce Jr. Fermin Moreno Matthis Synofzik Caroline Graff Mario Masellis Maria Carmela Tartaglia James B Rowe Rik Vandenberghe Elizabeth Finger Fabrizio Tagliavini Alexandre Mendonca Isabel Santana Christopher Butler Simon Ducharme Alexander Gerhard Adrian Danek Johannes Levin Markus Otto Sandro Sorbi Isabelle Le Ber Florence Pasquier Jonathan D Rohrer Genetic Frontotemporal dementia Initiative (GENFI) Dementia Research Centre UCL Queen Square Institute of Neurology University College London London United Kingdom Department of Medical Statistics London School of Hygiene and Tropical Medicine London United Kingdom Dementia Research Centre Department of Neurodegenerative Disease UCL Institute of Neurology Queen Square London United Kingdom Dementia Research Centre Queen Square Institute of Neurology University College London London United Kingdom Centre for Medical Image Computing Department of Medical Physics and Biomedical Engineering University College London London United Kingdom Neuroradiological Academic Unit UCL Queen Square Institute of Neurology UCL London United Kingdom Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology Cambridge MA USA Martinos Center for Biomedical Imaging Massachusetts General Hospital and Harvard Medical School Charlestown MA USA Alzheimer Center Erasmus Medical Center Rotterdam Netherlands Erasmus MC Rotterdam Netherlands Erasmus Medical Center Rotterdam Netherlands Centre for Neurodegenerative Disorders Neurology Unit Department of Clinical and Experimental Sciences University of Brescia Brescia Italy University of Milan Milan Italy Department of Biomedical Surgical and Dental Sciences University of Milan Milan Italy Neurology Department Hospital Clínic Institut d'Investigacions Biomediques Barcelona Spain Clinique Interdisciplinaire de Mémoire CHU de Québec/Université Laval/Hôpital de l’Enfant-Jésus Quebec City QC Canada Hospital Universitario Donostia San Sebastian Spain Centre for Neurology and Hertie-Institute for Clinical Brain Research Hoppe-Seyler-Str Tuebingen Germany Karolinska Institutet Department NVS Division of Neurogeriatrics Karolinska Institutet Stockholm Sweden Unit for Hereditary Dementia Theme Aging Karolinska University Hospital-Solna Stockholm Sweden LC Campbell Cognitive Neurology Research Unit Sunnybrook Research Institute Toronto ON Canada T

Background Genetic frontotemporal dementia is highly heterogeneous, with different progression patterns seen between individuals. Using in vivo MR images from the Genetic FTD Initiative (GENFI), we aimed to identify clinical progression in genetic mutation carriers from their brain volumes at baseline. Method Cortical and subcortical volumes of interest (VOIs) were generated using automated parcellation methods on volumetric 3T T1-weighted MRI scans for 480 carriers (198 GRN , 202 C9orf72 , 80 MAPT ). W-scores for 79 VOIs were computed from a linear regression model carried out on 298 non-carrier cognitively normal controls adjusting for the effect of age, sex, total intracranial volume and scanner type. Carriers were divided into three disease stages based on their global CDR® plus NACC FTLD score (CDR-GS): asymptomatic (0), possibly or mildly symptomatic (0.5) and fully symptomatic (1 or more). Cut-off points for each VOI were derived from Youden indices estimated with ROC curves to distinguish between CDR-GS=0 and CDR-GS≥1 within each gene. CDR-GS=0.5 carriers (30 GRN , 32 C9orf72 , 13 MAPT ) were classified as ‘normal’ or ‘abnormal’ based on these cut-off points. We compared the CDR® plus NACC FTLD sum-of-boxes scores (CDR-SOB) at one year follow-up in these two groups. Result Compared to those with normal baseline volumes, C9orf72 expansion carriers at CDR-GS=0.5 showed significantly higher CDR-SOB scores at follow-up if they had abnormal volumes in the total frontal (+5 points), orbitofrontal (+3), dorsolateral prefrontal (+6), or anterior cingulate (+4) cortices, the basal-paralaminar amygdala region (+2), CA1 region of the hippocampus (+4), total hippocampus (+6), cerebellar lobule VIIIb (+4), or lateral ventricles (+8). GRN mutation carriers showed significantly higher CDR-SOB scores if their volumes were abnormal in the frontal (+10), parietal (+14), insula (+8), orbitofrontal (+12), or medial parietal (+7) cortices, or the total hippocampus (+10). MAPT mu

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From brain volumes to subgroup classification in genetic mutation carriers for frontotemporal dementia: A cluster analysis in the GENFI study

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Alzheimer's & Dementia 2021年第S5期17卷

作者： Martina Bocchetta Emily G. Todd Jennifer M. Nicholas Carolin Heller Imogen J. Swift Georgia Peakman David M. Cash Rhian S. Convery Lucy L. Russell David L. Thomas Juan Eugenio Iglesias John C. van Swieten Lize C. Jiskoot Harro Seelaar Barbara Borroni Daniela Galimberti Raquel Sanchez-Valle Robert Laforce Jr. Fermin Moreno Matthis Synofzik Caroline Graff Mario Masellis Maria Carmela Tartaglia James B. Rowe Rik Vandenberghe Elizabeth Finger Fabrizio Tagliavini Alexandre Mendonca Isabel Santana Christopher Butler Simon Ducharme Alexander Gerhard Adrian Danek Johannes Levin Markus Otto Sandro Sorbi Isabelle Le Ber Florence Pasquier Jonathan D. Rohrer Genetic Frontotemporal dementia Initiative (GENFI) Dementia Research Centre UCL Queen Square Institute of Neurology University College London London United Kingdom Department of Medical Statistics London School of Hygiene and Tropical Medicine London United Kingdom Dementia Research Centre Queen Square Institute of Neurology University College London London United Kingdom Centre for Medical Image Computing Department of Medical Physics and Biomedical Engineering University College London London United Kingdom Dementia Research Centre Department of Neurodegenerative Disease UCL Institute of Neurology Queen Square London United Kingdom Neuroradiological Academic Unit UCL Queen Square Institute of Neurology UCL London United Kingdom Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology Cambridge MA USA Martinos Center for Biomedical Imaging Massachusetts General Hospital and Harvard Medical School Charlestown MA USA Alzheimer Center Erasmus Medical Center Rotterdam Netherlands Erasmus MC Rotterdam Netherlands Erasmus Medical Center Rotterdam Netherlands Centre for Neurodegenerative Disorders Neurology Unit Department of Clinical and Experimental Sciences University of Brescia Brescia Italy University of Milan Milan Italy Department of Biomedical Surgical and Dental Sciences University of Milan Milan Italy Neurology Department Hospital Clínic. Institut d'Investigacions Biomediques Barcelona Spain Clinique Interdisciplinaire de Mémoire CHU de Québec/Université Laval/Hôpital de l’Enfant-Jésus Quebec City QC Canada Hospital Universitario Donostia San Sebastian Spain Centre for Neurology and Hertie-Institute for Clinical Brain Research Hoppe-Seyler-Str Tuebingen Germany Karolinska Institutet Department NVS Division of Neurogeriatrics Karolinska Institutet Stockholm Sweden Unit for Hereditary Dementia Theme Aging Karolinska University Hospital-Solna Stockholm Sweden LC Campbell Cognitive Neurology Research Unit Sunnybrook Research Institute Toronto ON Canada T

Background Genetic frontotemporal dementia (FTD) is highly heterogeneous, with carriers of mutations in the same gene manifesting different phenotypes. Using in vivo MR images from the Genetic FTD Initiative (GENFI), we aimed to identify subgroups within the same genetic group whose brains were affected differently. Method Cortical and subcortical volumes of interest were generated using automated parcellation methods on volumetric 3T T1-weighted MRI scans for 479 carriers (198 GRN , 202 C9orf72 , and 79 MAPT mutation carriers). W-scores for 85 volumes of interest were computed from a linear regression model carried out on 298 non-carrier cognitively normal controls adjusting for the effect of age, sex, total intracranial volume and scanner type. Cluster analyses with the Ward agglomerating method were performed on all w-scores while considering the three genetic groups independently. The identified clusters were then compared for age, estimated years from onset, global and sum of boxes scores of the CDR® plus NACC FTLD (at baseline and after one year), neurofilament light chain (NfL) levels in the plasma and w-scores in brain regions typically showing early atrophy (Kruskal-Wallis test). Result We identified three clusters among the GRN mutation carriers and four in the MAPT and C9orf72 groups, which were all significantly different for the variables reported in the Table (p-value<0.003). For all three genetic groups, one cluster was formed by patients with a clinical diagnosis of FTD, with more extensive atrophy and increased disease severity. For the remaining clusters, there seemed to be an association with disease severity for MAPT and GRN mutation carriers but not so for C9orf72 expansion carriers where clinical scores were not clearly associated with a specific cluster. Conclusion By only looking at regional brain volumes, we were able to detect different clusters within carriers of mutations in the same gene, with C9orf72 expansion carriers being the most he

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Water and CSP – A preliminary methodology for strategic water demand assessment

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AIP Conference Proceedings 2019年第1期2126卷

作者： D. Frank Duvenhage Alan C. Brent William H. L. Stafford Omotoyosi Craig 1Ph.D. candidates Engineering Management Stellenbosch University Department of Industrial Engineering Private Bag XI Matieland 7602 Stellenbosch South Africa 2Extraordinary Professor Department of Industrial Engineering and the Centre for Renewable and Sustainable Energy Studies Private Bag XI Matieland 7602 Stellenbosch University South Africa 3Professor Sustainable Energy Systems Engineering and Computer Science Victoria University of Wellington Kelburn Parade Wellington New Zealand 4Senior Researcher Green Economy Solutions Natural Resources and the Environment Unit Council for Scientific and Industrial Research 10 Jan Celliers Rd 7600 Stellenbosch South Africa

CSP is highly dependent on water resources. Water resources have been shown to be both less abundant and more variable in high DNI areas. The water consumption of CSP varies according to design considerations and spatiotemporally varying conditions. Water-related risks threaten to further exacerbate the costs of CSP generation. Similarly, water demand from CSP poses a potential risk to already stressed water resources. Adequate planning of CSP fleet deployment is thus necessary to mitigate these risks. Such planning must include detailed assessments of both variable water resource availability, and variable water demand from CSP facilities. This paper presents a preliminary methodology for strategic water demand assessment from CSP plants

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Publisher Correction: Multiancestry genome-wide association study of 520,000 subjects identifies 32 loci associated with stroke and stroke subtypes

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Nature genetics 2019年第7期51卷 1192-1193页

作者： Rainer Malik Ganesh Chauhan Matthew Traylor Muralidharan Sargurupremraj Yukinori Okada Aniket Mishra Loes Rutten-Jacobs Anne-Katrin Giese Sander W van der Laan Solveig Gretarsdottir Christopher D Anderson Michael Chong Hieab H H Adams Tetsuro Ago Peter Almgren Philippe Amouyel Hakan Ay Traci M Bartz Oscar R Benavente Steve Bevan Giorgio B Boncoraglio Robert D Brown Adam S Butterworth Caty Carrera Cara L Carty Daniel I Chasman Wei-Min Chen John W Cole Adolfo Correa Ioana Cotlarciuc Carlos Cruchaga John Danesh Paul I W de Bakker Anita L DeStefano Marcel den Hoed Qing Duan Stefan T Engelter Guido J Falcone Rebecca F Gottesman Raji P Grewal Vilmundur Gudnason Stefan Gustafsson Jeffrey Haessler Tamara B Harris Ahamad Hassan Aki S Havulinna Susan R Heckbert Elizabeth G Holliday George Howard Fang-Chi Hsu Hyacinth I Hyacinth M Arfan Ikram Erik Ingelsson Marguerite R Irvin Xueqiu Jian Jordi Jiménez-Conde Julie A Johnson J Wouter Jukema Masahiro Kanai Keith L Keene Brett M Kissela Dawn O Kleindorfer Charles Kooperberg Michiaki Kubo Leslie A Lange Carl D Langefeld Claudia Langenberg Lenore J Launer Jin-Moo Lee Robin Lemmens Didier Leys Cathryn M Lewis Wei-Yu Lin Arne G Lindgren Erik Lorentzen Patrik K Magnusson Jane Maguire Ani Manichaikul Patrick F McArdle James F Meschia Braxton D Mitchell Thomas H Mosley Michael A Nalls Toshiharu Ninomiya Martin J O'Donnell Bruce M Psaty Sara L Pulit Kristiina Rannikmäe Alexander P Reiner Kathryn M Rexrode Kenneth Rice Stephen S Rich Paul M Ridker Natalia S Rost Peter M Rothwell Jerome I Rotter Tatjana Rundek Ralph L Sacco Saori Sakaue Michele M Sale Veikko Salomaa Bishwa R Sapkota Reinhold Schmidt Carsten O Schmidt Ulf Schminke Pankaj Sharma Agnieszka Slowik Cathie L M Sudlow Christian Tanislav Turgut Tatlisumak Kent D Taylor Vincent N S Thijs Gudmar Thorleifsson Unnur Thorsteinsdottir Steffen Tiedt Stella Trompet Christophe Tzourio Cornelia M van Duijn Matthew Walters Nicholas J Wareham Sylvia Wassertheil-Smoller James G Wilson Kerri L Wiggins Qiong Yang Salim Yusuf Joshua C Bis Tomi Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany. Centre for Brain Research Indian Institute of Science Bangalore India. INSERM U1219 Bordeaux Population Health Research Center University of Bordeaux Bordeaux France. Stroke Research Group Division of Clinical Neurosciences University of Cambridge Cambridge UK. Department of Neurology Institute for Neurodegenerative Disease Bordeaux University Hospital Bordeaux France. Laboratory for Statistical Analysis RIKEN Center for Integrative Medical Sciences Yokohama Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Osaka Japan. Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan. Department of Neurology Massachusetts General Hospital (MGH) Harvard Medical School Boston MA USA. Laboratory of Experimental Cardiology Department of Cardiology Division of Heart and Lungs University Medical Center Utrecht University of Utrecht Utrecht the Netherlands. deCODE genetics/AMGEN Inc. Reykjavik Iceland. Center for Genomic Medicine MGH Boston MA USA. J. Philip Kistler Stroke Research Center Department of Neurology MGH Boston MA USA. Program in Medical and Population Genetics Broad Institute Cambridge MA USA. Population Health Research Institute McMaster University Hamilton Ontario Canada. Department of Epidemiology Erasmus University Medical Center Rotterdam the Netherlands. Department of Radiology and Nuclear Medicine Erasmus University Medical Center Rotterdam the Netherlands. Department of Medicine and Clinical Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan. Department of Clinical Sciences Lund University Malmö Sweden. INSERM Institut Pasteur de Lille LabEx DISTALZ-UMR1167 Risk Factors and Molecular Determinants of Aging-Related Diseases Université Lille Lille France. Centre Hospitalier Université Lille Epidemiology and Public Health D

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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