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TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A (vol 603, pg 131, 2022)

NATURE 2024年第8020期631卷 E7-E7页

作者： Brown, Anna-Leigh Wilkins, Oscar G. Keuss, Matthew J. Hill, Sarah E. Zanovello, Matteo Lee, Weaverly Colleen Bampton, Alexander Lee, Flora C. Y. Masino, Laura Qi, Yue A. Bryce-Smith, Sam Gatt, Ariana Hallegger, Martina Fagegaltier, Delphine Phatnani, Hemali Phatnani, Hemali Newcombe, Jia Gustavsson, Emil K. Seddighi, Sahba Reyes, Joel F. Coon, Steven L. Ramos, Daniel Schiavo, Giampietro Fisher, Elizabeth M. C. Raj, Towfique Secrier, Maria Lashley, Tammaryn Ule, Jernej Buratti, Emanuele Humphrey, Jack Ward, Michael E. Fratta, Pietro UCL Queen Square Motor Neuron Disease Centre Department of Neuromuscular Diseases UCL Queen Square Institute of Neurology UCL London UK The Francis Crick Institute London UK UK Dementia Research Institute University College London London UK Department of Molecular Biology and Nanobiotechnology National Institute of Chemistry Ljubljana Slovenia National Institute of Neurological Disorders and Stroke NIH Bethesda MD USA Medical Scientist Training Program Johns Hopkins University School of Medicine Baltimore MD USA Center for Alzheimer’s and Related Dementias National Institutes of Health Bethesda MD USA Queen Square Brain Bank UCL Queen Square Institute of Neurology University College London London UK Department of Neurodegenerative Disease UCL Queen Square Institute of Neurology University College London London UK Great Ormond Street Institute of Child Health Genetics and Genomic Medicine University College London London UK Center for Genomics of Neurodegenerative Disease New York Genome Center (NYGC) New York NY USA NeuroResource Department of Neuroinflammation UCL Queen Square Institute of Neurology London UK Molecular Genomics Core Eunice Kennedy Shriver National Institute of Child Health and Human Development NIH Bethesda MD USA Nash Family Department of Neuroscience and Friedman Brain Institute Icahn School of Medicine at Mount Sinai New York NY USA Ronald M. Loeb Center for Alzheimer’s Disease Icahn School of Medicine at Mount Sinai New York NY USA Department of Pathology Fishberg Department of Neuroscience Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomic Sciences and Icahn Institute for Data Science and Genomic Technology Icahn School of Medicine at Mount Sinai New York NY USA Estelle and Daniel Maggin Department of Neurology Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics Evolution and Environment UCL Genetics Institute University College London London UK Mole

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High-depth African genomes inform human migration and health (vol 586, pg 741, 2020)

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NATURE 2021年第7856期592卷 E26-E26页

作者： Choudhury, Ananyo Aron, Shaun Botigue, Laura R. Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Muzny, Donna Metcalf, Ginger Gibbs, Richard A. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Rotimi, Charles Ramsay, Michele Choudhury, Ananyo Choudhury, Ananyo Aron, Shaun Botigue, Laura Sengupta, Dhriti Botha, Gerrit Bensellak, Taoufik Wells, Gordon Kumuthini, Judit Shriner, Daniel Fakim, Yasmina J. Ghoorah, Anisah W. Dareng, Eileen Odia, Trust Falola, Oluwadamilare Adebiyi, Ezekiel Hazelhurst, Scott Mazandu, Gaston Nyangiri, Oscar A. Mbiyavanga, Mamana Benkahla, Alia Kassim, Samar K. Mulder, Nicola Adebamowo, Sally N. Chimusa, Emile R. Rotimi, Charles Ramsay, Michele Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Adebamowo, Clement Agongo, Godfred Boua, Romuald P. Oduro, Abraham Sorgho, Hermann Landoure, Guida Cisse, Lassana Diarra, Salimata Samassekou, Oumar Anabwani, Gabriel Matshaba, Mogomotsi Joloba, Moses Kekitiinwa, Adeodata Mardon, Graeme Mpoloka, Sununguko W. Kyobe, Samuel Mlotshwa, Busisiwe Mwesigwa, Savannah Retshabile, Gaone Williams, Lesedi Wonkam, Ambroise Moussa, Ahmed Adu, Dwomoa Ojo, Akinlolu Burke, David Salako, Babatunde O. Matovu, Enock Bucheton, Bruno Hertz-Fowler, Christiane Koffi, Mathurin Macleod, Annette Mumba-Ngoyi, Dieudonne Noyes, Harry Nyangiri, Oscar A. Simo, Gustave Simuunza, Martin Awadalla, Philip Bruat, Vanessa Gbeha, Elias Adeyemo, Adebowale A. Lombard, Zane Hanchard, Neil A. Sydney Brenner Institute for Molecular Bioscience Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa School of Electrical and Information Engineering University of the Witwatersrand Johannesburg South Africa Division of Human Genetics National Health Laboratory Service and School of Pathology Faculty of Health Sciences University of the Witwatersrand Johannesburg South Africa Navrongo Health Research Centre Navrongo Ghana Clinical Research Unit of Nanoro Institut de Recherche en Sciences de la Sante Bobo-Dioulasso Burkina Faso Center for Research in Agricultural Genomics (CRAG) Plant and Animal Genomics Program CSIC-IRTA-UAB-UB Barcelona Spain Computational Biology Division and H3ABioNet Department of Integrative Biomedical Sciences IDM University of Cape Town Cape Town South Africa System and Data Engineering Team Abdelmalek Essaadi University ENSA Tangier Morocco Centre for Proteomic and Genomic Research (CPGR) Cape Town South Africa South African National Bioinformatics Institute University of the Western Cape Bellville South Africa Africa Health Research Institute Durban South Africa Center for Research on Genomics and Global Health National Human Genome Research Institute National Institutes of Health Bethesda MD USA Department of Agriculture and Food Science Faculty of Agriculture University of Mauritius Reduit Mauritius Department of Digital Technologies Faculty of Information Communication & Digital Technologies University of Mauritius Reduit Mauritius Department of Public Health and Primary Care University of Cambridge Cambridge UK Institute of Human Virology Nigeria Abuja Nigeria Department of Epidemiology and Public Health University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA University of Maryland Greenebaum Comprehensive Cancer Center University of Maryland School of Medicine University of Maryland Baltimore Baltimore MD USA Institute of Human Virology and Greeneba

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Community-developed checklists for publishing images and image analyses

arXiv

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arXiv 2023年

作者： Schmied, Christopher Nelson, Michael S. Avilov, Sergiy Bakker, Gert-Jan Bertocchi, Cristina Bischof, Johanna Boehm, Ulrike Brocher, Jan Carvalho, Mariana Chiritescu, Catalin Christopher, Jana Cimini, Beth A. Conde-Sousa, Eduardo Ebner, Michael Ecker, Rupert Eliceiri, Kevin Fernandez-Rodriguez, Julia Gaudreault, Nathalie Gelman, Laurent Grunwald, David Gu, Tingting Halidi, Nadia Hammer, Mathias Hartley, Matthew Held, Marie Jug, Florian Kapoor, Varun Koksoy, Ayse Aslihan Lacoste, Judith Le Dévédec, Sylvia Le Guyader, Sylvie Liu, Penghuan Martins, Gabriel G. Mathur, Aastha Miura, Kota Llopis, Paula Montero Nitschke, Roland North, Alison Parslow, Adam C. Payne-Dwyer, Alex Plantard, Laure Ali, Rizwan Schroth-Diez, Britta Schütz, Lucas Scott, Ryan T. Seitz, Arne Selchow, Olaf Sharma, Ved P. Spitaler, Martin Srinivasan, Sathya Strambio-De-Castillia, Caterina Taatjes, Douglas Tischer, Christian Jambor, HelenaKlara Fondazione Human Technopole Viale Rita Levi-Montalcini 1 Milano20157 Italy Department of Biomedical Engineering University of Wisconsin-Madison MadisonWI53706 United States Max Planck Institute of Immunobiology and Epigenetics Freiburg79108 Germany Medical BioSciences department Radboud University Medical Centre Nijmegen Netherlands Laboratory for Molecular mechanics of cell adhesions Pontificia Universidad Católica de Chile Santiago Chile Osaka University Graduate School of Engineering Science Japan Euro-BioImaging ERIC Bio-Hub Meyerhofstr. 1 Heidelberg69117 Germany Carl Zeiss AG Carl-Zeiss-Straße 22 Oberkochen73447 Germany BioVoxxel Scientific Image Processing and Analysis Eugen-Roth-Strasse 8 Ludwigshafen67071 Germany Nanophotonics and BioImaging Facility at INL International Iberian Nanotechnology Laboratory 4715-330 Portugal Phi Optics Inc. 1800 S. Oak St Ste 106 ChampaignIL61820 United States Biochemistry Center Heidelberg Heidelberg University Germany Imaging Platform Broad Institute CambridgeMA02142 United States i3S Instituto de Investigação e Inovação Em Saúde and INEB Instituto de Engenharia Biomédica Universidade do Porto Porto Portugal Translational Research Institute Queensland University of Technology 37 Kent Street WoolloongabbaQLD4102 Australia School of Biomedical Sciences Faculty of Health Queensland University of Technology BrisbaneQLD4059 Australia TissueGnostics GmbH Vienna1020 Austria Department of Medical Physics and Biomedical Engineering University of Wisconsin-Madison MadisonWI53706 United States Centre for Cellular Imaging Core Facility Sahlgrenska Academy University of Gothenburg Sweden Allen Institute for Cell Science SeattleWA United States Friedrich Miescher Institute for Biomedical Research Basel Switzerland RNA Therapeutics Institute University of Massachusetts Chan Medical School WorcesterMA01605 United States University of Oklahoma NormanOK United States Advanced Light Microscopy Unit Ce

Images document scientific discoveries and are prevalent in modern biomedical research. Microscopy imaging in particular is currently undergoing rapid technological advancements. However for scientists wishing to publish the obtained images and image analyses results, there are to date no unified guidelines. Consequently, microscopy images and image data in publications may be unclear or difficult to interpret. Here we present community-developed checklists for preparing light microscopy images and image analysis for publications. These checklists offer authors, readers, and publishers key recommendations for image formatting and annotation, color selection, data availability, and for reporting image analysis workflows. The goal of our guidelines is to increase the clarity and reproducibility of image figures and thereby heighten the quality and explanatory power of microscopy data is in publications. © 2023, CC BY-SA.

关键词： Image analysis

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62P KI67 in ER+HER2-negative pure invasive lobular breast carcinoma (ILC). What’s the best Ki67 threshold to differentiate prognosis?

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ESMO Open 2023年第1期8卷 101286-101286页

作者： M. Bellet-Ezquerra P. Gomez Pardo R. Fasani G. Villacampa M. Portu G. Serna L. Joval A. Petit A. Fernandez Ortega J. Jimenez E. Zamora M.J. Gil L. Sanz Gomez C. Viaplana F. Gallego V. Peg Cámara C. Saura Manich S. Pernas Simon P.G. Nuciforo Oncology Dept. Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain Medical Oncology Dept. Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain Barcelona Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain Statistics Department SOLTI-Grupo Espanol de Estudio Barcelona Spain Oncology Department ICO-Institut Català d'Oncologia - Hospital Duran i Reynals Hospitalet de Llobregat Spain Molecular Pathology VHIO Valle de Hebrón Instituto de Oncología Barcelona Spain Statistics Department VHIO Valle de Hebrón Instituto de Oncología Barcelona Spain Pathology Hospital Universitari de Bellvitge Hospitalet de Llobregat Spain Oncology ICO-Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) Hospitalet de Llobregat Spain Molecular Pathology Vall d`Hebron University Hospital Barcelona Spain Medical Oncology Vall d'Hebron University Hospital Barcelona Spain Medical Oncology Dept. ICO-Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) L'Hospitalet de Llobregat Spain Medical Oncology Dept. Hospital Universitario Vall d'Hebron Barcelona Spain Oncology Data Science (Odyssey Group) Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain Molecular Oncology Group Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain Department of Pathology Vall d`Hebron University Hospital Barcelona Spain Head Breast Cancer Program Vall d'Hebron University Hospital Barcelona Spain Medical Oncology Breast Unit ICO-Institut Català d'Oncologia l'Hospitalet (Hospital Duran i Reynals) L'Hospitalet de Llobregat Spain Molecular Oncology Dept. Vall d'Hebron Institute of Oncology (VHIO)-Cellex Center Barcelona Spain

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Author Correction: Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk

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Nature genetics 2023年第10期55卷 1778-1779页

作者： Nick Shrine Abril G Izquierdo Jing Chen Richard Packer Robert J Hall Anna L Guyatt Chiara Batini Rebecca J Thompson Chandan Pavuluri Vidhi Malik Brian D Hobbs Matthew Moll Wonji Kim Ruth Tal-Singer Per Bakke Katherine A Fawcett Catherine John Kayesha Coley Noemi Nicole Piga Alfred Pozarickij Kuang Lin Iona Y Millwood Zhengming Chen Liming Li Sara R A Wijnant Lies Lahousse Guy Brusselle Andre G Uitterlinden Ani Manichaikul Elizabeth C Oelsner Stephen S Rich R Graham Barr Shona M Kerr Veronique Vitart Michael R Brown Matthias Wielscher Medea Imboden Ayoung Jeong Traci M Bartz Sina A Gharib Claudia Flexeder Stefan Karrasch Christian Gieger Annette Peters Beate Stubbe Xiaowei Hu Victor E Ortega Deborah A Meyers Eugene R Bleecker Stacey B Gabriel Namrata Gupta Albert Vernon Smith Jian'an Luan Jing-Hua Zhao Ailin F Hansen Arnulf Langhammer Cristen Willer Laxmi Bhatta David Porteous Blair H Smith Archie Campbell Tamar Sofer Jiwon Lee Martha L Daviglus Bing Yu Elise Lim Hanfei Xu George T O'Connor Gaurav Thareja Omar M E Albagha Karsten Suhre Raquel Granell Tariq O Faquih Pieter S Hiemstra Annelies M Slats Benjamin H Mullin Jennie Hui Alan James John Beilby Karina Patasova Pirro Hysi Jukka T Koskela Annah B Wyss Jianping Jin Sinjini Sikdar Mikyeong Lee Sebastian May-Wilson Nicola Pirastu Katherine A Kentistou Peter K Joshi Paul R H J Timmers Alexander T Williams Robert C Free Xueyang Wang John L Morrison Frank D Gilliland Zhanghua Chen Carol A Wang Rachel E Foong Sarah E Harris Adele Taylor Paul Redmond James P Cook Anubha Mahajan Lars Lind Teemu Palviainen Terho Lehtimäki Olli T Raitakari Jaakko Kaprio Taina Rantanen Kirsi H Pietiläinen Simon R Cox Craig E Pennell Graham L Hall W James Gauderman Chris Brightling James F Wilson Tuula Vasankari Tarja Laitinen Veikko Salomaa Dennis O Mook-Kanamori Nicholas J Timpson Eleftheria Zeggini Josée Dupuis Caroline Hayward Ben Brumpton Claudia Langenberg Stefan Weiss Georg Homuth Carsten Oliver Schmidt Nicole Probst-Hensch Marjo-Riitta Jarvelin Alanna C Morrison Ozren Polasek Igor Department of Population Health Sciences University of Leicester Leicester UK. nick.shrine@leicester.ac.uk. Department of Population Health Sciences University of Leicester Leicester UK. Division of Respiratory Medicine and NIHR Nottingham Biomedical Research Centre University of Nottingham Nottingham UK. Leicester National Institute for Health and Care Research Biomedical Research Centre Glenfield Hospital Leicester UK. Channing Division of Network Medicine Division of Pulmonary and Critical Care Medicine Department of Medicine Brigham and Women's Hospital Boston MA USA. Harvard Medical School Boston MA USA. COPD Foundation Washington DC USA. Department of Clinical Science Unversity of Bergen Bergen Norway. Nuffield Department of Population Health University of Oxford Oxford UK. MRC Population Health Research Unit University of Oxford Oxford UK. Department of Epidemiology and Biostatistics School of Public Health Peking University Health Science Center Beijing China. Department of Respiratory Diseases Ghent Universital Hospital Ghent Belgium. Department of Bioanalysis Faculty of Pharmaceutical Sciences Ghent University Ghent Belgium. Department of Epidemiology Eramus Medical Center Rotterdam The Netherlands. Department of Internal Medicine Eramus Medical Center Rotterdam The Netherlands. Center for Public Health Genomics University of Virginia Charlottesville VA USA. Department of Medicine Columbia University Medical Center New York NY USA. Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK. Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health The University of Texas Health Science Center at Houston Houston TX USA. MRC Centre for Environment and Health Department of Epidemiology and Biostatistics School of Public Health Imperial College London London UK. Department of Epidemiology and Public Health Swiss Tropical

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1545P DNA damage repair (DDR) gene mutations (mut) are predictors of response to platinum-based chemotherapy in advanced pancreatic cancer (PC) patients (pts)

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Annals of Oncology 2020年 31卷 S947-S947页

作者： H. Verdaguer M. Guardiola F.M. Mancuso D.A. Acosta Eyzaguirre E. Buxò J. Hernando M. Diez Garcia B. Laquente I. Baraibar Argota F.J. Ros Montañá A. Garcia-Alvarez J. Matito A. Martin A. Sierra G. Villacampa Javierre C. Molero J.M. Miquel A. Vivancos R. Dienstmann T. Macarulla Mercadé Medical Onology Vall d`Hebron University Hospital Institut d'Oncologia Barcelona Spain Oncology Data Science Vall d`Hebron University Hospital Institut d'Oncologia Barcelona Spain Cancer Genomics Vall d'Hebron Institute of Oncology (VHIO) Barcelona Spain Medical Oncology Department Vall d'Hebron University Hospital Barcelona Spain Medical Oncology Department Vall Hebron University Hospital Vall Hebron Institute of Oncology (VHIO) Barcelona Spain Medical Oncology Department ICO - Institut Catala d'Oncologia Hospital Duran i Reynals Hospitalet De Llobregat Spain Medical Oncology Vall d'Hebron University Hospital Barcelona Spain Oncology Vall d'Hebron University Hospital Barcelona Spain Prescreening Program VHIO BArcelona Spain Statistics Department Vall d'Hebron Institute of Oncology (VHIO) Barcelona Spain Project Managment Vall d'Hebron Institute of Oncology (VHIO) Barcelona Spain Genomics Vall d'Hebron University Hospital Barcelona Spain Oncology Data Science Vall d'Hebron University Hospital Barcelona Spain Medical Oncology D'Hebron University Hospital (HUVH) Barcelona Spain

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Correction: Association of low-frequency and rare coding variants with information processing speed

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Translational psychiatry 2022年第1期12卷 88页

作者： Jan Bressler Gail Davies Albert V Smith Yasaman Saba Joshua C Bis Xueqiu Jian Caroline Hayward Lisa Yanek Jennifer A Smith Saira S Mirza Ruiqi Wang Hieab H H Adams Diane Becker Eric Boerwinkle Archie Campbell Simon R Cox Gudny Eiriksdottir Chloe Fawns-Ritchie Rebecca F Gottesman Megan L Grove Xiuqing Guo Edith Hofer Sharon L R Kardia Maria J Knol Marisa Koini Oscar L Lopez Riccardo E Marioni Paul Nyquist Alison Pattie Ozren Polasek David J Porteous Igor Rudan Claudia L Satizabal Helena Schmidt Reinhold Schmidt Stephen Sidney Jeannette Simino Blair H Smith Stephen T Turner Sven J van der Lee Erin B Ware Rachel A Whitmer Kristine Yaffe Qiong Yang Wei Zhao Vilmundur Gudnason Lenore J Launer Annette L Fitzpatrick Bruce M Psaty Myriam Fornage M Arfan Ikram Cornelia M van Duijn Sudha Seshadri Thomas H Mosley Ian J Deary Human Genetics Center School of Public Health University of Texas Health Science Center at Houston Houston TX USA. jan.bressler@uth.tmc.edu. Lothian Birth Cohorts University of Edinburgh Edinburgh UK. Department of Psychology University of Edinburgh Edinburgh UK. Icelandic Heart Association Kopavogur Iceland. Gottfried Schatz Research Center for Cell Signaling Metabolism and Aging Medical University of Graz Graz Austria. Cardiovascular Health Research Unit Department of Medicine University of Washington Seattle WA USA. Brown Foundation Institute of Molecular Medicine University of Texas Health Science Center at Houston Houston TX USA. Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK. Generation Scotland Centre for Genomic and Experimental Medicine Institute of Genetics and Cancer University of Edinburgh Edinburgh UK. Department of General Internal Medicine Johns Hopkins University School of Medicine Baltimore MD USA. Department of Epidemiology School of Public Health University of Michigan Ann Arbor MI USA. Survey Research Center Institute for Social Research University of Michigan Ann Arbor MI USA. Department of Epidemiology Erasmus MC University Medical Center Rotterdam The Netherlands. Department of Neurology Sunnybrook Health Sciences Centre Toronto ON Canada. Department of Medicine University of Toronto Toronto ON Canada. Department of Biostatistics Boston University School of Public Health Boston MA USA. Framingham Heart Study Framingham MA USA. Department of Neurology and Alzheimer Center Amsterdam Neuroscience Vrieje Universiteit Medical Center Amsterdam The Netherlands. Human Genetics Center School of Public Health University of Texas Health Science Center at Houston Houston TX USA. Human Genome Sequencing Center Baylor College of Medicine Houston TX USA. Centre for Genomic and Experimental Medicine Institute of Genetics and Cancer University of Edinburgh Ed

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Corrigendum to "Dissecting the genetic heterogeneity of gastric cancer"

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EBioMedicine 2023年 94卷 104709页

作者： Timo Hess Carlo Maj Jan Gehlen Oleg Borisov Stephan L Haas Ines Gockel Michael Vieth Guillaume Piessen Hakan Alakus Yogesh Vashist Carina Pereira Michael Knapp Vitalia Schüller Alexander Quaas Heike I Grabsch Jessica Trautmann Ewa Malecka-Wojciesko Anna Mokrowiecka Jan Speller Andreas Mayr Julia Schröder Axel M Hillmer Dominik Heider Florian Lordick Ángeles Pérez-Aísa Rafael Campo Jesús Espinel Fernando Geijo Concha Thomson Luis Bujanda Federico Sopeña Ángel Lanas María Pellisé Claudia Pauligk Thorsten Oliver Goetze Carolin Zelck Julian Reingruber Emadeldin Hassanin Peter Elbe Sandra Alsabeah Mats Lindblad Magnus Nilsson Nicole Kreuser René Thieme Francesca Tavano Roberta Pastorino Dario Arzani Roberto Persiani Jin-On Jung Henrik Nienhüser Katja Ott Ralf R Schumann Oliver Kumpf Susen Burock Volker Arndt Anna Jakubowska Małgorzta Ławniczak Victor Moreno Vicente Martín Manolis Kogevinas Marina Pollán Justyna Dąbrowska Antonio Salas Olivier Cussenot Anne Boland-Auge Delphine Daian Jean-Francois Deleuze Erika Salvi Maris Teder-Laving Gianluca Tomasello Margherita Ratti Chiara Senti Valli De Re Agostino Steffan Arnulf H Hölscher Katharina Messerle Christiane Josephine Bruns Armands Sīviņš Inga Bogdanova Jurgita Skieceviciene Justina Arstikyte Markus Moehler Hauke Lang Peter P Grimminger Martin Kruschewski Nikolaos Vassos Claus Schildberg Philipp Lingohr Karsten Ridwelski Hans Lippert Nadine Fricker Peter Krawitz Per Hoffmann Markus M Nöthen Lothar Veits Jakob R Izbicki Adrianna Mostowska Federico Martinón-Torres Daniele Cusi Rolf Adolfsson Geraldine Cancel-Tassin Aksana Höblinger Ernst Rodermann Monika Ludwig Gisela Keller Andres Metspalu Hermann Brenner Joerg Heller Markus Neef Michael Schepke Franz Ludwig Dumoulin Lutz Hamann Renato Cannizzaro Michele Ghidini Dominik Plaßmann Michael Geppert Peter Malfertheiner Olivier Glehen Tomasz Skoczylas Marek Majewski Jan Lubiński Orazio Palmieri Stefania Boccia Anna Latiano Nuria Aragones Thomas Schmidt Mário Dinis-Ribeiro Rui Medeiros Salah-Eddin Al-Batran Mārcis Leja Juozas Institute of Human Genetics University of Marburg Marburg Germany Institute of Human Genetics University of Bonn School of Medicine & University Hospital Bonn Bonn Germany. Institute for Genomic Statistics and Bioinformatics Medical Faculty University of Bonn Bonn Germany. Institute of Human Genetics University of Marburg Marburg Germany. Department of Upper GI Diseases Karolinska University Hospital and Unit of Gastroenterology and Rheumatology Karolinska Institutet Stockholm Sweden. Department of Visceral Transplant Thoracic and Vascular Surgery University Hospital Leipzig Leipzig Germany. Institute for Pathology Friedrich-Alexander-University Erlangen-Nuernberg Klinikum Bayreuth Bayreuth Germany. Department of Digestive and Oncological Surgery Claude Huriez Hospital CHU Lille Lille France. Department of General Visceral Cancer and Transplant Surgery University of Cologne Cologne Germany. Department of General Visceral and Thoracic Surgery University Medical Center Hamburg-Eppendorf University of Hamburg Hamburg Germany Centre for Surgical Oncology Medias Klinikum Burghausen Burghausen Germany. Molecular Oncology and Viral Pathology Group IPO Porto Research Center (CI-IPOP) Portuguese Institute of Oncology of Porto (IPO Porto) 4200-072 Porto Portugal Porto Comprehensive Cancer Center & RISE @ CI-IPO University of Porto 4200-450 Porto Portugal. Institute of Medical Biometrics Informatics and Epidemiology (IMBIE) Medical Faculty University of Bonn Bonn Germany. Institute of Pathology University Hospital Cologne Medical Faculty University of Cologne Germany. Department of Pathology GROW School for Oncology and Developmental Biology Maastricht University Medical Center Maastricht the Netherlands Pathology and Data Analytics Leeds Institute of Medical Research at St James's University of Leeds Leeds United Kingdom. Department of Digestive Tract Diseases Medical University of Lodz Lodz Poland. Department of Mathematics and Computer Science Unive

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Publisher Correction: Global estimates on the number of people blind or visually impaired by cataract: a meta-analysis from 2000 to 2020

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Eye (London, England) 2024年第11期38卷 2229-2231页

作者： Konrad Pesudovs Hugh R. Taylor Tabassom Sedighi Rupert R. A. Bourne Shahina Pardhan Van Charles Lansingh John H. Kempen Ian Tapply Arthur G. Fernandes Maria Vittoria Cicinelli Alessandro Arrigo Nicolas Leveziel Serge Resnikoff Seth Flaxman Mukkharram M. Bikbov Tasanee Braithwaite Alain Bron Ching-Yu Cheng Monte A. Del Monte Joshua R. Ehrlich Leon B. Ellwein David Friedman João M. Furtado Gus Gazzard Ronnie George M. Elizabeth Hartnett Jost B. Jonas Rim Kahloun Moncef Khairallah Rohit C. Khanna Janet Leasher Julie-Anne Little Vinay Nangia Michal Nowak Tunde Peto Pradeep Ramulu Fotis Topouzis Mitiadis Tsilimbaris Ya Xing Wang Ningli Wang Paul Svitil Briant Theo Vos Katrin Burkart Kaleb Coberly Xiaochen Dai Stephen S. Lim Tomislav Mestrovic Ali H. Mokdad Christopher J. L. Murray Jaimie D. Steinmetz Awoke Misganaw Yohannes Habtegiorgis Abate Mohammad Abdollahi Mozhan Abdollahi Ayele Mamo Abebe Olumide Abiodun Richard Gyan Aboagye Woldu Aberhe Abrha Hasan Abualruz Hiwa Abubaker Ali Eman Abu-Gharbieh Salahdein Aburuz Tadele Girum Girum Adal Mesafint Molla Adane Isaac Yeboah Addo Qorinah Estiningtyas Sakilah Adnani Muhammad Sohail Afzal Muhammad Umair Shahin Aghamiri Bright Opoku Ahinkorah Aqeel Ahmad Sajjad Ahmad Ali Ahmadi Siamak Sabour Ayman Ahmed Haroon Ahmed Ahmad Samir Alfaar Abid Ali Syed Shujait Shujait Ali Awais Altaf Hubert Amu Emmanuel Manu Sofia Androudi Rodrigo Anguita Abhishek Anil Rimple Jeet Kaur Muhammad Aaqib Shamim Saeid Anvari Anayochukwu Edward Anyasodor Francis Appiah Jalal Arabloo Haleh Ayatollahi Mosab Arafat Damelash Areda Reza Arefnezhad Brhane Berhe Aregawi Akeza Awealom Asgedom Tahira Ashraf Seyyed Shamsadin Athari Bantalem Tilaye Tilaye Atinafu Birhan Tsegaw Taye Maha Moh’d Wahbi Atout Alok Atreya Ahmed Y. Azzam Hassan Babamohamadi Sara Bagherieh Yogesh Bahurupi Atif Amin Baig Shumaila Nargus Biswajit Banik Mainak Bardhan Saurav Basu Kavita Batra Nebiyou Simegnew Bayileyegn Fatemeh Bazvand Addisu Shunu Beyene Awoke Masrie Asrat Derese Devidas S. Bhagat Akshaya Srikanth Bhagavathula Pankaj Bh Medicine & Health University of New South Wales Sydney NSW Australia School of Optometry and Vision Science University of New South Wales Sydney NSW Australia School of Population and Global Health University of Melbourne Carlton VIC Australia Vision and Eye Research Institute Anglia Ruskin University Cambridge UK HelpMeSee Instituto Mexicano de Oftalmologia Santiago de Querétaro Mexico University of Miami Gables FL USA University of Utah Salt Lake City UT USA Chief Medical Office HelpMeSee New York NY USA Mexican Institute of Ophthalmology Queretaro Mexico Department of Ophthalmology Massachusetts Eye and Ear/Shepens Eye Research Institute/Harvard Medical School Boston MA USA Eye Unit MyungSung Christian Medical Center (MCM) Comprehensive Specialized Hospital and MyungSun Medical College Addis Ababa Ethiopia Department of Ophthalmology Addis Ababa University Addis Ababa Ethiopia Sight for Souls Bellevue WA USA Department of Ophthalmology Harvard University Boston MA USA Eye Unit MyungSung Medical College Addis Ababa Ethiopia Addenbrooke’s Hospital Cambridge UK Department of Ophthalmology Cambridge University Hospitals Cambridge UK Federal University of Sao Paolo Sao Paolo SP Brazil University of Calgary Calgary AB Canada Department of Ophthalmology and Visual Sciences Federal University of São Paulo Sao Paulo Brazil School of Medicine Vita-Salute San Raffaele University Milan Italy Department of Ophthalmology IRCCS San Raffaele Scientific Institute Milan Italy Department of Ophthalmology San Raffaele Scientific Institute Milano Italy IRCCS San Raffaele Scientific Institute Vita-Salute University Milan Italy Scientific Institute San Raffaele Hospital Vita-Salute University Milan Italy University of Poitiers Poitiers France CHU de Poitiers Poitiers France Ophthalmology Department CHU de Poitiers (Poitiers University Hospital) Poitiers France Unité 1084 National Institute of Health and Medical Research (INSERM) Poitiers France

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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science 2020年第6523期370卷 000-000页

作者： Warren, Wesley C. Harris, R. Alan Haukness, Marina Fiddes, Ian T. Murali, Shwetha C. Fernandes, Jason Dishuck, Philip C. Storer, Jessica M. Raveendran, Muthuswamy Hillier, LaDeana W. Porubsky, David Mao, Yafei Gordon, David Vollger, Mitchell R. Lewis, Alexandra P. Munson, Katherine M. DeVogelaere, Elizabeth Armstrong, Joel Diekhans, Mark Walker, Jerilyn A. Tomlinson, Chad Graves-Lindsay, Tina A. Kremitzki, Milinn Salama, Sofie R. Audano, Peter A. Escalona, Merly Maurer, Nicholas W. Antonacci, Francesca Mercuri, Ludovica Maggiolini, Flavia A. M. Catacchio, Claudia Rita Underwood, Jason G. O'Connor, David H. Sanders, Ashley D. Korbel, Jan O. Ferguson, Betsy Kubisch, H. Michael Picker, Louis Kalin, Ned H. Rosene, Douglas Levine, Jon Abbott, David H. Gray, Stanton B. Sanchez, Mar M. Kovacs-Balint, Zsofia A. Kemnitz, Joseph W. Thomasy, Sara M. Roberts, Jeffrey A. Kinnally, Erin L. Capitanio, John P. Skene, J. H. Pate Platt, Michael Cole, Shelley A. Green, Richard E. Ventura, Mario Wiseman, Roger W. Paten, Benedict Batzer, Mark A. Rogers, Jeffrey Eichler, Evan E. Department of Animal Sciences Bond Life Sciences Center University of Missouri Columbia MO 65211 USA. Department of Surgery School of Medicine University of Missouri Columbia MO 65211 USA. Institute of Data Science and Informatics University of Missouri Columbia MO 65211 USA. Human Genome Sequencing Center Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Computational Genomics Laboratory University of California-Santa Cruz Santa Cruz CA 95064 USA. Inscripta Inc. Boulder CO 80301 USA. Department of Genome Sciences University of Washington Seattle WA 98195 USA. Howard Hughes Medical Institute University of Washington Seattle WA 98195 USA. Department of Biomolecular Engineering University of California-Santa Cruz Santa Cruz CA 95064 USA. Department of Biological Sciences Louisiana State University Baton Rouge LA 70803 USA. Institue for Systems Biology Seattle WA 98109 USA. McDonnell Genome Institute Washington University St. Louis MO 63108 USA. Department of Biology University of Bari ’Aldo Moro’ 70125 Bari Italy. Pacific Biosciences of California Seattle WA 94025 USA. Department of Pathology and Laboratory Medicine Wisconsin National Primate Research Center University of Wisconsin-Madison Madison WI 53711 USA. European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany. Division of Genetics Oregon National Primate Research Center Oregon Health and Science University Beaverton OR 97006 USA. Tulane National Primate Research Center Covington LA 70433 USA. Oregon National Primate Research Center and Vaccine and Gene Therapy Institute Oregon Health Sciences University Beaverton OR 97006 USA. Department of Psychiatry University of Wisconsin School of Medicine and Public Health Madison WI 53719 USA. Department of Anatomy and Neurobiology Boston University School of Medicine Boston MA 02118 USA. Department of Neuroscience University of Wisconsin Madison WI 53175 USA. Wisconsin N

The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

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