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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Gut microbiota composition can reflect immune responses of latent tuberculosis infection in patients with poorly controlled diabetes

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Respiratory research 2023年第1期24卷 11页

作者： Hung-Ling Huang Yong-Chun Luo Po-Liang Lu Cheng-Hsieh Huang Kun-Der Lin Meng-Rui Lee Meng-Hsuan Cheng Yao-Tsung Yeh Cheng-Yuan Kao Jann-Yuan Wang Jinn-Moon Yang Inn-Wen Chong Division of Pulmonary and Critical Care Medicine Kaohsiung Medical University Hospital 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Department of Internal Medicine Kaohsiung Medical University Hospital 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Department of Internal Medicine Kaohsiung Municipal Ta-Tung Hospital 68 Jhonghua 3rd Rd Cianjin District Kaohsiung 80145 Taiwan. Graduate Institute of Medicine College of Medicine Kaohsiung Medical University 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Institute of Bioinformatics and Systems Biology National Yang Ming Chiao Tung University 1001 University Road Hsinchu 30010 Taiwan. Center for Liquid Biopsy and Cohort Kaohsiung Medical University 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Aging and Disease Prevention Research Center Fooyin University 151 Jinxue Rd. Daliao Dist. Kaohsiung 83102 Taiwan. Ph. D. Program in Environmental and Occupational Medicine Kaohsiung Medical University 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Department of Medical Laboratory Science and Biotechnology Fooyin University 151 Jinxue Rd. Daliao Dist. Kaohsiung 83102 Taiwan. Division of Endocrinology and Metabolism Kaohsiung Medical University Hospital 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Department of Internal Medicine National Taiwan University Hospital 7 Chung-Shan South Rd. Zhongzheng Dist. Taipei 100225 Taiwan. Department of Respiratory Therapy Kaohsiung Medical University Hospital 100 Shih-Chuan 1st Road Kaohsiung 80708 Taiwan. Immunology Research Center National Health Research Institutes 35 Keyan Road Zhunan Town Miaoli 35053 Taiwan. Department of Internal Medicine National Taiwan University Hospital 7 Chung-Shan South Rd. Zhongzheng Dist. Taipei 100225 Taiwan. jywang@ntu.edu.tw. Institute of Bioinformatics and Systems Biology National Yang Ming Chiao Tung University 1001 University Road Hsinchu 30010 Taiwan. moon@faculty.nctu.edu.tw. Department of Biologica

BACKGROUND:Diabetes mellitus (DM) is a major risk factor for tuberculosis (TB). Evidence has linked the DM-related dysbiosis of gut microbiota to modifiable host immunity to Mycobacterium tuberculosis infection. However, the crosslinks between gut microbiota composition and immunological effects on the development of latent TB infection (LTBI) in DM patients remain uncertain. METHODS:We prospectively obtained stool, blood samples, and medical records from 130 patients with poorly-controlled DM (pDM), defined as ever having an HbA1c > 9.0% within previous 1 year. Among them, 43 had LTBI, as determined by QuantiFERON-TB Gold in-Tube assay. The differences in the taxonomic diversity of gut microbiota between LTBI and non-LTBI groups were investigated using 16S ribosomal RNA sequencing, and a predictive algorithm was established using a random forest model. Serum cytokine levels were measured to determine their correlations with gut microbiota. RESULTS:Compared with non-LTBI group, the microbiota in LTBI group displayed a similar alpha-diversity but different beta-diversity, featuring decrease of Prevotella_9, Streptococcus, and Actinomyces and increase of Bacteroides, Alistipes, and Blautia at the genus level. The accuracy was 0.872 for the LTBI prediction model using the aforementioned 6 microbiome-based biomarkers. Compared with the non-LTBI group, the LTBI group had a significantly lower serum levels of IL-17F (p = 0.025) and TNF-α (p = 0.038), which were correlated with the abundance of the aforementioned 6 taxa. CONCLUSIONS:The study results suggest that gut microbiome composition maybe associated with host immunity relevant to TB status, and gut microbial signature might be helpful for the diagnosis of LTBI.

关键词： Diabetic mellitus Gut microbiota Immunity Latent tuberculosis infection

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Landscape of somatic mutations in 560 breast cancer whole-genome sequences (vol 534, pg 47, 2016)

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NATURE 2019年第7742期566卷 E1-E1页

作者： Nik-Zainal, Serena Davies, Helen Staaf, Johan Ramakrishna, Manasa Glodzik, Dominik Zou, Xueqing Martincorena, Inigo Alexandrov, Ludmil B. Martin, Sancha Wedge, David C. Van Loo, Peter Ju, Young Seok Smid, Marcel Brinkman, Arie B. Morganella, Sandro Aure, Miriam R. Lingjaerde, Ole Christian Langerod, Anita Ringner, Markus Ahn, Sung-Min Boyault, Sandrine Brock, Jane E. Broeks, Annegien Butler, Adam Desmedt, Christine Dirix, Luc Dronov, Serge Fatima, Aquila Foekens, John A. Gerstung, Moritz Hooijer, Gerrit K. J. Jang, Se Jin Jones, David R. Kim, Hyung-Yong King, Tari A. Krishnamurthy, Savitri Lee, Hee Jin Lee, Jeong-Yeon Li, Yilong McLaren, Stuart Menzies, Andrew Mustonen, Ville O'Meara, Sarah Pauporte, Iris Pivot, Xavier Purdie, Colin A. Raine, Keiran Ramakrishnan, Kamna Rodriguez-Gonzalez, F. German Romieu, Gilles Sieuwerts, Anieta M. Simpson, Peter T. Shepherd, Rebecca Stebbings, Lucy Stefansson, Olafur A. Teague, Jon Tommasi, Stefania Treilleux, Isabelle Van den Eynden, Gert G. Vermeulen, Peter Vincent-Salomon, Anne Yates, Lucy Caldas, Carlos van't Veer, Laura Tutt, Andrew Knappskog, Stian Tan, Benita Kiat Tee Jonkers, Jos Borg, Ake Ueno, Naoto T. Sotiriou, Christos Viari, Alain Futreal, P. Andrew Campbell, Peter J. Span, Paul N. Van Laere, Steven Lakhani, Sunil R. Eyfjord, Jorunn E. Thompson, Alastair M. Birney, Ewan Stunnenberg, Hendrik G. de Vijver, Marc J. van Martens, John W. M. Borresen-Dale, Anne-Lise Richardson, Andrea L. Kong, Gu Thomas, Gilles Stratton, Michael R. Wellcome Trust Sanger Institute Hinxton Cambridge UK East Anglian Medical Genetics Service Cambridge University Hospitals NHS Foundation Trust Cambridge UK Division of Oncology and Pathology Department of Clinical Sciences Lund Lund University Lund Sweden Theoretical Biology and Biophysics (T-6) Los Alamos National Laboratory Los Alamos USA Center for Nonlinear Studies Los Alamos National Laboratory Los Alamos USA Department of Human Genetics University of Leuven Leuven Belgium Department of Medical Oncology Erasmus MC Cancer Institute and Cancer Genomics Netherlands Erasmus University Medical Center Rotterdam The Netherlands Radboud University Department of Molecular Biology Faculty of Science Nijmegen The Netherlands European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Trust Genome Campus Hinxton UK Department of Cancer Genetics Institute for Cancer Research Oslo University Hospital The Norwegian Radium Hospital Oslo Norway K. G. Jebsen Centre for Breast Cancer Research Institute for Clinical Medicine University of Oslo Oslo Norway Department of Computer Science University of Oslo Oslo Norway Gachon Institute of Genome Medicine and Science Gachon University Gil Medical Center Incheon South Korea Translational Research Lab Centre Léon Bérard Lyon Cedex 08 France Department of Pathology Brigham and Women’s Hospital Boston USA The Netherlands Cancer Institute Amsterdam The Netherlands Breast Cancer Translational Research Laboratory Université Libre de Bruxelles Institut Jules Bordet Brussels Belgium Translational Cancer Research Unit Center for Oncological Research Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Dana-Farber Cancer Institute Boston Massachusetts USA Department of Pathology Academic Medical Center Amsterdam The Netherlands Department of Pathology Asan Medical Center College of Medicine Ulsan University Ulsan South Korea Department of Pathology College of Medicine Hany

In the Methods section of this Article, 'greater than' should have been 'less than' in the sentence 'Putative regions of clustered rearrangements were identified as having an average inter-rearrangement distance that was at least 10 times greater than the whole-genome average for the individual sample. '. The Article has not been corrected.

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The IBEX Knowledge-Base: Achieving more together with open science

arXiv

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arXiv 2024年

作者： Radtke, Andrea J. Anidi, Ifeanyichukwu Arakkal, Leanne Arroyo-Mejias, Armando Beuschel, Rebecca T. Börner, Katy Chu, Colin J. Clark, Beatrice Clatworthy, Menna R. Colautti, Jake Croteau, Joshua Denha, Saven Dever, Rose Dutra, Walderez O. Fritzsche, Sonja Fullam, Spencer Gerner, Michael Y. Gola, Anita Gollob, Kenneth J. Hernandez, Jonathan M. Hor, Jyh Liang Ichise, Hiroshi Jing, Zhixin Jonigk, Danny Kandov, Evelyn Kastenmüller, Wolfgang Koenig, Joshua F.E. Kothurkar, Aanandita Kreins, Alexandra Y. Lamborn, Ian Lin, Yuri Morais, Katia Luciano Pereira Lunich, Aleksandra Luz, Jean C.S. MacDonald, Ryan B. Makranz, Chen Maltez, Vivien I. Moriaty, Ryan V. Ocampo-Godinez, Juan M. Olyntho, Vitoria M. Padhan, Kartika Remmert, Kirsten Richoz, Nathan Schrom, Edward C. Shang, Wanjing Shi, Lihong Shih, Rochelle M. Speranza, Emily Stierli, Salome Teichmann, Sarah A. Veres, Tibor Z. Vierhout, Megan Wachter, Brianna T. Wade-Vallance, Adam K. Williams, Margaret Zangger, Nathan Germain, Ronald N. Yaniv, Ziv Lymphocyte Biology Section Center for Advanced Tissue Imaging Laboratory of Immune System Biology National Institute of Allergy and Infectious Diseases National Institutes of Health BethesdaMD United States Critical Care Medicine and Pulmonary Branch National Heart Lung and Blood Institute National Institutes of Health BethesdaMD United States Lymphocyte Biology Section Laboratory of Immune System Biology National Institute of Allergy and Infectious Diseases National Institutes of Health BethesdaMD United States Department of Intelligent Systems Engineering Indiana University BloomingtonIN United States UCL Institute of Ophthalmology NIHR Moorfields Biomedical Research Centre London United Kingdom Cambridge Institute for Therapeutic Immunology and Infectious Diseases University of Cambridge Department of Medicine Molecular Immunity Unit Laboratory of Molecular Biology Cambridge United Kingdom McMaster Immunology Research Centre Schroeder Allergy and Immunology Research Institute Department of Medicine Faculty of Health Sciences McMaster University HamiltonON Canada Department of Business Development BioLegend Inc. San DiegoCA United States Functional Immunogenomics Unit National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institutes of Health BethesdaMD United States Laboratory of Cell-Cell Interactions Department of Morphology Institute of Biological Sciences Universidade Federal de Minas Gerais MG Belo Horizonte Brazil Spatial Proteomics Group Berlin Germany Division of Rheumatology Rush University Medical Center ChicagoIL United States Department of Immunology University of Washington School of Medicine SeattleWA United States Robin Chemers Neustein Laboratory of Mammalian Cell Biology and Development The Rockefeller University New YorkNY United States Hospital Israelita Albert Einstein SP Sao Paulo Brazil Surgical Oncology Program National Cancer Institute National Institutes of Health BethesdaMD United St

Iterative Bleaching Extends multipleXity (IBEX) is a versatile method for highly multiplexed imaging of diverse tissues. Based on open science principles, we created the IBEX Knowledge-Base, a resource for reagents, p... 详细信息

关键词： Cleaning

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Automatic Extraction of Medication Mentions from Tweets-Overview of the BioCreative VII Shared Task 3 Competition

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Database : the journal of biological databases and curation 2023年第2023期2023卷 baac108页

作者： Davy Weissenbacher Karen O'Connor Siddharth Rawal Yu Zhang Richard Tzong-Han Tsai Timothy Miller Dongfang Xu Carol Anderson Bo Liu Qing Han Jinfeng Zhang Igor Kulev Berkay Köprü Raul Rodriguez-Esteban Elif Ozkirimli Ammer Ayach Roland Roller Stephen Piccolo Peijin Han V G Vinod Vydiswaran Ramya Tekumalla Juan M Banda Parsa Bagherzadeh Sabine Bergler João F Silva Tiago Almeida Paloma Martinez Renzo Rivera-Zavala Chen-Kai Wang Hong-Jie Dai Luis Alberto Robles Hernandez Graciela Gonzalez-Hernandez Department of Computational Biomedicine Cedars-Sinai Medical Center Los Angeles CA USA. DBEI The Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Computer Science and Information Engineering National Central University No. 300 Zhongda Rd Zhongli District Taoyuan 320 Taiwan. IoX Center National Taiwan University Da'an District Section 4 Roosevelt Rd No. 1 Barry Lam Hall Taipei 106 Taiwan. Research Center for Humanities and Social Sciences Academia Sinica No. 128 Section 2 Academia Rd Nangang District Taipei 115 Taiwan. Computational Health Informatics Program Boston Children's Hospital Boston MA USA. Department of Pediatrics Harvard Medical School Boston MA USA. NVIDIA Santa Clara CA USA. Department of Statistics Florida State University Tallahassee FL USA. Data and Analytics Chapter F. Hoffmann-La Roche Ltd Switzerland. Pharmaceutical Research and Early Development Roche Innovation Center Basel Switzerland. Speech and Language Technology Lab DFKI Berlin Germany. Department of Biology Brigham Young University Provo UT USA. Department of Computational Medicine and Bioinformatics Medical School University of Michigan Ann Arbor MI USA. Department of Learning Health Sciences Medical School University of Michigan Ann Arbor MI USA. School of Information University of Michigan Ann Arbor MI USA. Department of Computer Science Georgia State University Atlanta GA USA. CLaC Labs Concordia University Montreal Canada. DETI Institute of Electronics and Informatics Engineering of Aveiro University of Aveiro Portugal. Department of Computation University of A Coruña Spain. Computer Science and Engineering Department Universidad Carlos III de Madrid Madrid Spain. Big Data Laboratory Chunghwa Telecom Laboratories Taoyuan Taiwan. Department of Computer Science National Yang Ming Chiao Tung University Hsinchu Taiwan. Department of Electrical Engineering College of Electrical Engineering and Computer Sci

This study presents the outcomes of the shared task competition BioCreative VII (Task 3) focusing on the extraction of medication names from a Twitter user's publicly available tweets (the user's 'timeline'). In general, detecting health-related tweets is notoriously challenging for natural language processing tools. The main challenge, aside from the informality of the language used, is that people tweet about any and all topics, and most of their tweets are not related to health. Thus, finding those tweets in a user's timeline that mention specific health-related concepts such as medications requires addressing extreme imbalance. Task 3 called for detecting tweets in a user's timeline that mentions a medication name and, for each detected mention, extracting its span. The organizers made available a corpus consisting of 182 049 tweets publicly posted by 212 Twitter users with all medication mentions manually annotated. The corpus exhibits the natural distribution of positive tweets, with only 442 tweets (0.2%) mentioning a medication. This task was an opportunity for participants to evaluate methods that are robust to class imbalance beyond the simple lexical match. A total of 65 teams registered, and 16 teams submitted a system run. This study summarizes the corpus created by the organizers and the approaches taken by the participating teams for this challenge. The corpus is freely available at https://***/tasks/biocreative-vii/track-3/. The methods and the results of the competing systems are analyzed with a focus on the approaches taken for learning from class-imbalanced data.

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Author Correction: FOXA1 repression drives lineage plasticity and immune heterogeneity in bladder cancers with squamous differentiation

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Nature communications 2022年第1期13卷 7920页

作者： Joshua I Warrick Wenhuo Hu Hironobu Yamashita Vonn Walter Lauren Shuman Jenna M Craig Lan L Gellert Mauro A A Castro A Gordon Robertson Fengshen Kuo Irina Ostrovnaya Judy Sarungbam Ying-Bei Chen Anuradha Gopalan Sahussapont J Sirintrapun Samson W Fine Satish K Tickoo Kwanghee Kim Jasmine Thomas Nagar Karan Sizhi Paul Gao Timothy N Clinton Andrew T Lenis Timothy A Chan Ziyu Chen Manisha Rao Travis J Hollman Yanyun Li Nicholas D Socci Shweta Chavan Agnes Viale Neeman Mohibullah Bernard H Bochner Eugene J Pietzak Min Yuen Teo Gopa Iyer Jonathan E Rosenberg Dean F Bajorin Matthew Kaag Suzanne B Merrill Monika Joshi Rosalyn Adam John A Taylor Peter E Clark Jay D Raman Victor E Reuter Yu Chen Samuel A Funt David B Solit David J DeGraff Hikmat A Al-Ahmadie Department of Pathology and Laboratory Medicine Pennsylvania State University College of Medicine Hershey PA USA. Human Oncology and Pathogenesis Program Memorial Sloan Kettering Cancer Center New York NY USA. Department of Urology Pennsylvania State University College of Medicine Hershey PA USA. Department of Public Health Sciences Pennsylvania State University College of Medicine Hershey PA USA. Department of Pathology Microbiology and Immunology Vanderbilt University Medical Center Nashville TN USA. Bioinformatics and Systems Biology Laboratory Federal University of Parana Curitiba Paraná Brazil. BC Cancer Canada's Michael Smith Genome Sciences Centre Vancouver BC Canada. Urology Service Department of Surgery Memorial Sloan Kettering Cancer Center New York NY USA. Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA. Department of Pathology and Laboratory Medicine Memorial Sloan Kettering Cancer Center New York NY USA. Marie-Josée and Henry R. Kravis Center for Molecular Oncology Memorial Sloan Kettering Cancer Center New York NY USA. Department of Medicine Memorial Sloan Kettering Cancer Center New York NY USA. Department of Medicine Division of Hematology-Oncology Penn State Cancer Institute Hershey PA USA. Department of Urology Boston Children's Hospital Boston MA USA. Department of Urology University of Kansas Medical Center Kansas City MO USA. Levine Cancer Institute Atrium Health Charlotte NC USA. Department of Pathology and Laboratory Medicine Pennsylvania State University College of Medicine Hershey PA USA. ddegraff@pennstatehealth.psu.edu. Department of Urology Pennsylvania State University College of Medicine Hershey PA USA. ddegraff@pennstatehealth.psu.edu. Deparment of Biochemistry and Molecular Biology Pennsylvania State University College of Medicine Hershey PA USA. ddegraff@pennstatehealth.psu.edu. Department of Epidemiology and Biostatistics Memorial Sloan Kettering Ca

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Author Correction: The European Reference Genome Atlas: piloting a decentralised approach to equitable biodiversity genomics

npj biodiversity

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npj biodiversity 2024年第1期3卷 31页

作者： Ann M Mc Cartney Giulio Formenti Alice Mouton Diego De Panis Luísa S Marins Henrique G Leitão Genevieve Diedericks Joseph Kirangwa Marco Morselli Judit Salces-Ortiz Nuria Escudero Alessio Iannucci Chiara Natali Hannes Svardal Rosa Fernández Tim De Pooter Geert Joris Mojca Strazisar Jonathan M D Wood Katie E Herron Ole Seehausen Phillip C Watts Felix Shaw Robert P Davey Alice Minotto José M Fernández Astrid Böhne Carla Alegria Tyler Alioto Paulo C Alves Isabel R Amorim Jean-Marc Aury Niclas Backstrom Petr Baldrian Laima Baltrunaite Endre Barta Bertrand BedHom Caroline Belser Johannes Bergsten Laurie Bertrand Helena Bilandija Mahesh Binzer-Panchal Iliana Bista Mark Blaxter Paulo A V Borges Guilherme Borges Dias Mirte Bosse Tom Brown Rémy Bruggmann Elena Buena-Atienza Josephine Burgin Elena Buzan Alessia Cariani Nicolas Casadei Matteo Chiara Sergio Chozas Fedor Čiampor Angelica Crottini Corinne Cruaud Fernando Cruz Love Dalen Alessio De Biase Javier Del Campo Teo Delic Alice B Dennis Martijn F L Derks Maria Angela Diroma Mihajla Djan Simone Duprat Klara Eleftheriadi Philine G D Feulner Jean-François Flot Giobbe Forni Bruno Fosso Pascal Fournier Christine Fournier-Chambrillon Toni Gabaldon Shilpa Garg Carmela Gissi Luca Giupponi Jessica Gomez-Garrido Josefa González Miguel L Grilo Björn Grüning Thomas Guerin Nadege Guiglielmoni Marta Gut Marcel P Haesler Christoph Hahn Balint Halpern Peter W Harrison Julia Heintz Maris Hindrikson Jacob Höglund Kerstin Howe Graham M Hughes Benjamin Istace Mark J Cock Franc Janžekovič Zophonias O Jonsson Sagane Joye-Dind Janne J Koskimäki Boris Krystufek Justyna Kubacka Heiner Kuhl Szilvia Kusza Karine Labadie Meri Lähteenaro Henrik Lantz Anton Lavrinienko Lucas Leclère Ricardo Jorge Lopes Ole Madsen Ghislaine Magdelenat Giulia Magoga Tereza Manousaki Tapio Mappes Joao Pedro Marques Gemma I Martinez Redondo Florian Maumus Shane A McCarthy Hendrik-Jan Megens Jose Melo-Ferreira Sofia L Mendes Matteo Montagna Joao Moreno Mai-Britt Mosbech Mónica Moura Zuzana Musilova Eugene Myers Will J N Genomics Institute University of California Santa Cruz CA USA. anmmccar@ucsc.edu. The Vertebrate Genome Laboratory The Rockefeller University New York NY USA. Department of Biology University of Florence Sesto Fiorentino Italy. InBios-Conservation Genetics Laboratory University of Liege Liege Belgium. Leibniz Institut für Zoo und Wildtierforschung Berlin Germany. Berlin Center for Genomics in Biodiversity Research Berlin Germany. Department of Biology University of Antwerp Antwerp Belgium. Institute of Zoology University of Cologne Cologne Germany. Department of Chemistry Life Sciences and Environmental Sustainability University of Parma Parma Italy. Institute of Evolutionary Biology (CSIC-Universitat Pompeu Fabra) Barcelona Spain. Naturalis Biodiversity Center Leiden The Netherlands. Neuromics Support Facility VIB Center for Molecular Neurology VIB Antwerp Belgium. Neuromics Support Facility Department of Biomedical Sciences University of Antwerp Antwerp Belgium. Tree of Life Wellcome Sanger Institute Hinxton Cambridge UK. School of Biology and Environmental Science University College Dublin Belfield Ireland. Aquatic Ecology & Evolution Institute of Ecology & Evolution University of Bern Bern Switzerland. Department of Fish Ecology & Evolution Eawag Kastanienbaum Switzerland. Department of Biological and Environmental Science University of Jyvaskyla Jyvaskyla Finland. The Earlham Institute Norwich Research Park Norwich UK. Digital Science London UK. Barcelona Supercomputing Center Spanish National Bioinformatics Institute ELIXIR Spain Getafe Spain. Leibniz Institute for the Analysis of Biodiversity Change Museum Koenig Bonn Bonn Germany. CE3C-Centre for Ecology Evolution and Environmental Changes & CHANGE-Global Change and Sustainability Institute Faculdade de Ciências Universidade de Lisboa Campo Grande Lisboa Portugal. Centro Nacional de Análisis Genómico (CNAG) Barcelona Spain. Universitat de Barcelona (UB) Barcelona Spain. CIBIO C

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Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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Nature genetics 2023年第6期55卷 1080页

作者： Bernardo Rodriguez-Martin Eva G Alvarez Adrian Baez-Ortega Jorge Zamora Fran Supek Jonas Demeulemeester Martin Santamarina Young Seok Ju Javier Temes Daniel Garcia-Souto Harald Detering Yilong Li Jorge Rodriguez-Castro Ana Dueso-Barroso Alicia L Bruzos Stefan C Dentro Miguel G Blanco Gianmarco Contino Daniel Ardeljan Marta Tojo Nicola D Roberts Sonia Zumalave Paul A Edwards Joachim Weischenfeldt Montserrat Puiggròs Zechen Chong Ken Chen Eunjung Alice Lee Jeremiah A Wala Keiran M Raine Adam Butler Sebastian M Waszak Fabio C P Navarro Steven E Schumacher Jean Monlong Francesco Maura Niccolo Bolli Guillaume Bourque Mark Gerstein Peter J Park David C Wedge Rameen Beroukhim David Torrents Jan O Korbel Iñigo Martincorena Rebecca C Fitzgerald Peter Van Loo Haig H Kazazian Kathleen H Burns Peter J Campbell Jose M C Tubio Department of Zoology Genetics and Physical Anthropology Universidade de Santiago de Compostela Santiago de Compostela Spain. Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain. Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Transmissible Cancer Group Department of Veterinary Medicine University of Cambridge Cambridge UK. The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain. Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK. Genome Data Science Institute for Research in Biomedicine (IRB Barcelona) The Barcelona Institute of Science and Technology (BIST) Barcelona Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. The Francis Crick Institute London UK. Department of Human Genetics University of Leuven Leuven Belgium. Genomes and Disease Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon South Korea. Cancer Ageing and Somatic Mutation Programme Wellcome Sanger Institute Cambridge UK. Department of Biochemistry Genetics and Immunology University of Vigo Vigo Spain. Galicia Sur Health Research Institute Vigo Spain. Faculty of Science and Technology University of Vic-Central University of Catalonia (UVic-UCC) Vic Spain. Barcelona Supercomputing Center (BSC) Barcelona Spain. Experimental Cancer Genetics Wellcome Sanger Institute Cambridge UK. Oxford Big Data Institute University of Oxford Oxford UK. DNA Repair and Genome Integrity Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Department of Biochemistry and Molecular Biology Universidade de Santiago de Compostela Santiago de Compostela Spain. Medical R

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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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Author Correction: Conserved and divergent gene regulatory programs of the mammalian neocortex

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Nature 2024年第7996期625卷 E26页

作者： Nathan R Zemke Ethan J Armand Wenliang Wang Seoyeon Lee Jingtian Zhou Yang Eric Li Hanqing Liu Wei Tian Joseph R Nery Rosa G Castanon Anna Bartlett Julia K Osteen Daofeng Li Xiaoyu Zhuo Vincent Xu Lei Chang Keyi Dong Hannah S Indralingam Jonathan A Rink Yang Xie Michael Miller Fenna M Krienen Qiangge Zhang Naz Taskin Jonathan Ting Guoping Feng Steven A McCarroll Edward M Callaway Ting Wang Ed S Lein M Margarita Behrens Joseph R Ecker Bing Ren Department of Cellular and Molecular Medicine University of California San Diego School of Medicine La Jolla CA USA. Center for Epigenomics University of California San Diego School of Medicine La Jolla CA USA. Bioinformatics and Systems Biology Program University of California San Diego La Jolla CA USA. Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA. Division of Biological Sciences University of California San Diego La Jolla CA USA. Computational Neurobiology Laboratory The Salk Institute for Biological Studies La Jolla CA USA. Department of Genetics The Edison Family Center for Genome Sciences & Systems Biology Washington University School of Medicine St Louis MO USA. Princeton Neuroscience Institute Princeton University Princeton NJ USA. Department of Genetics Harvard Medical School Boston USA. Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA. McGovern Institute for Brain Research Department of Brain and Cognitive Sciences Massachusetts Institute of Technology Cambridge MA USA. Allen Institute for Brain Science Seattle WA USA. Systems Neurobiology Laboratories The Salk Institute for Biological Studies La Jolla CA USA. Department of Neurosciences University of California San Diego La Jolla CA USA. McDonnell Genome Institute Washington University School of Medicine St. Louis MO USA. Department of Neurological Surgery University of Washington Seattle WA USA. Genomic Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA. ecker@salk.edu. Howard Hughes Medical Institute The Salk Institute for Biological Studies La Jolla CA USA. ecker@salk.edu. Department of Cellular and Molecular Medicine University of California San Diego School of Medicine La Jolla CA USA. biren@ucsd.edu. Center for Epigenomics University of California San Diego School of Medicine La Jolla CA USA. biren@ucsd.edu. Institute of Genomic Medicine Moores Cancer C

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