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Building a precision medicine infrastructure at a national level: The Swedish experience

Cambridge prisms. Precision medicine 2023年 1卷 e15页

作者： Anders Edsjö Anna Lindstrand David Gisselsson Paula Mölling Mikaela Friedman Lucia Cavelier Maria Johansson Hans Ehrencrona Therese Fagerqvist Tobias Strid Lovisa Lovmar Bo Jacobsson Åsa Johansson Lars Engstrand Craig E Wheelock Per Sikora Valtteri Wirta Thoas Fioretos Richard Rosenquist Department of Clinical Genetics Pathology and Molecular Diagnostics Office for Medical Services Region Skåne Lund Sweden. Division of Pathology Department of Clinical Sciences Lund University Lund Sweden. Department of Molecular Medicine and Surgery Karolinska Institutet Stockholm Sweden. Clinical Genetics Karolinska University Hospital Solna Sweden. Genomic Medicine Center Karolinska Karolinska University Hospital Stockholm Sweden. Division of Clinical Genetics Department of Laboratory Medicine Lund University Lund Sweden. Department of Laboratory Medicine Faculty of Medicine and Health Örebro University Örebro Sweden. Lund University Collaboration Office Lund University Lund Sweden. Innovation Partnership Office Uppsala University Uppsala Sweden. Department of Clinical Pathology Biological and Clinical Sciences Linköping University Linköping Sweden. Clinical Genomics Linköping Linköping University Linköping Sweden. Department of Clinical Genetics and Genomics Sahlgrenska University Hospital Gothenburg Sweden. Department of Obstetrics and Gynecology Sahlgrenska Academy Gothenburg University Gothenburg Sweden. Department of Obstetrics and Gynecology Sahlgrenska University Hospital Gothenburg Sweden. Department of Immunology Genetics and Pathology Science for Life Laboratory Uppsala University Uppsala Sweden. Department of Microbiology Tumor and Cell Biology Centre for Translational Microbiome Research Karolinska Institutet Solna Sweden. Unit of Integrative Metabolomics Institute of Environmental Medicine Karolinska Institutet Stockholm Sweden. Department of Respiratory Medicine and Allergy Karolinska University Hospital Stockholm Sweden. Clinical Genomics Gothenburg Science for Life Laboratory University of Gothenburg Gothenburg Sweden. Bioinformatics Data Center Core Facilities Sahlgrenska Academy University of Gothenburg Gothenburg Sweden. Department of Microbiology Tumor and Cell Biology Clinical Genomics Stockholm Science Life Labor

Precision medicine has the potential to transform healthcare by moving from one-size-fits-all to personalised treatment and care. This transition has been greatly facilitated through new high-throughput sequencing technologies that can provide the unique molecular profile of each individual patient, along with the rapid development of targeted therapies directed to the Achilles heels of each disease. To implement precision medicine approaches in healthcare, many countries have adopted national strategies and initiated genomic/precision medicine initiatives to provide equal access to all citizens. In other countries, such as Sweden, this has proven more difficult due to regionally organised healthcare. Using a bottom-up approach, key stakeholders from academia, healthcare, industry and patient organisations joined forces and formed Genomic Medicine Sweden (GMS), a national infrastructure for the implementation of precision medicine across the country. To achieve this, Genomic Medicine Centres have been established to provide regionally distributed genomic services, and a national informatics infrastructure has been built to allow secure data handling and sharing. GMS has a broad scope focusing on rare diseases, cancer, pharmacogenomics, infectious diseases and complex diseases, while also providing expertise in informatics, ethical and legal issues, health economy, industry collaboration and education. In this review, we summarise our experience in building a national infrastructure for precision medicine. We also provide key examples how precision medicine already has been successfully implemented within our focus areas. Finally, we bring up challenges and opportunities associated with precision medicine implementation, the importance of international collaboration, as well as the future perspective in the field of precision medicine.

关键词： genomic medicine implementation national infrastructure precision medicine

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Author Correction: Puma genomes from North and South America provide insights into the genomic consequences of inbreeding

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Nature communications 2019年第1期10卷 5276页

作者： Nedda F Saremi Megan A Supple Ashley Byrne James A Cahill Luiz Lehmann Coutinho Love Dalén Henrique V Figueiró Warren E Johnson Heather J Milne Stephen J O'Brien Brendan O'Connell David P Onorato Seth P D Riley Jeff A Sikich Daniel R Stahler Priscilla Marqui Schmidt Villela Christopher Vollmers Robert K Wayne Eduardo Eizirik Russell B Corbett-Detig Richard E Green Christopher C Wilmers Beth Shapiro Department of Biomolecular Engineering University of California Santa Cruz 1156 High Street Santa Cruz CA 95064 USA. Department of Ecology and Evolutionary Biology University of California Santa Cruz 1156 High Street Santa Cruz CA 95064 USA. Department of Molecular Cell and Developmental Biology University of California Santa Cruz 1156 High Street Santa Cruz CA 95064 USA. Laboratory of Neurogenetics of Language Rockefeller University 1230 York Avenue New York NY 10065 USA. Laboratório de Biotecnologia Animal Departamento de Zootecnia ESALQ Universidade de São Paulo Caixa Postal 09 Piracicaba SP 13418-900 Brazil. Department of Bioinformatics and Genetics Swedish Museum of Natural History P.O. Box 50007 Stockholm 10405 Sweden. Escola de Ciências Pontifical Catholic University of Rio Grande do Sul Avenida Ipiranga 6681-Partenon Porto Alegre-RS 90619-900 Brazil. Smithsonian Conservation Biology Institute Smithsonian Institution 600 Maryland Avenue SW Washington DC 20002 USA. Walter Reed Biosystematics Unit Smithsonian Institution 4210 Silver Hill Road Suitland MD 20746 USA. Theodosius Dobzhansky Center for Genome Bioinformatics Saint Petersburg State University 41 Sredniy Prospekt Saint Petersburg 199004 Russia. Department of Medical Informatics and Clinical Epidemiology Oregon Health and Science University 3181 S.W. Sam Jackson Park Road Portland OR 97239-3098 USA. Fish and Wildlife Research Institute Florida Fish and Wildlife Conservation Commission 298 Sabal Palm Road Naples FL 34114 USA. Santa Monica Mountains National Recreation Area 401 West Hillcrest Drive Thousand Oaks CA 91360 USA. Department of Ecology and Evolutionary Biology University of California Los Angeles 610 Charles E. Young Drive South Los Angeles CA 90095-1601 USA. Yellowstone Center for Resources P.O. Box 168 Yellowstone National Park WY 82190 USA. EcoMol Consultoria e Projetos Avenida Limeira 1131- Areiao Piracicaba-SP Brazil. Environmental Studies

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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Correction to: Genome-enabled insights into the biology of thrips as crop pests

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BMC biology 2020年第1期18卷 169页

作者： Dorith Rotenberg Aaron A Baumann Sulley Ben-Mahmoud Olivier Christiaens Wannes Dermauw Panagiotis Ioannidis Chris G C Jacobs Iris M Vargas Jentzsch Jonathan E Oliver Monica F Poelchau Swapna Priya Rajarapu Derek J Schneweis Simon Snoeck Clauvis N T Taning Dong Wei Shirani M K Widana Gamage Daniel S T Hughes Shwetha C Murali Samuel T Bailey Nicolas E Bejerman Christopher J Holmes Emily C Jennings Andrew J Rosendale Andrew Rosselot Kaylee Hervey Brandi A Schneweis Sammy Cheng Christopher Childers Felipe A Simão Ralf G Dietzgen Hsu Chao Huyen Dinh Harsha Vardhan Doddapaneni Shannon Dugan Yi Han Sandra L Lee Donna M Muzny Jiaxin Qu Kim C Worley Joshua B Benoit Markus Friedrich Jeffery W Jones Kristen A Panfilio Yoonseong Park Hugh M Robertson Guy Smagghe Diane E Ullman Maurijn van der Zee Thomas Van Leeuwen Jan A Veenstra Robert M Waterhouse Matthew T Weirauch John H Werren Anna E Whitfield Evgeny M Zdobnov Richard A Gibbs Stephen Richards Department of Entomology and Plant Pathology North Carolina State University Raleigh NC 27695 USA. drotenb@ncsu.edu. Virology Section College of Veterinary Medicine University of Tennessee A239 VTH 2407 River Drive Knoxville TN 37996 USA. Department of Entomology and Nematology University of California Davis Davis CA 95616 USA. Laboratory of Agrozoology Department of Plants and Crops Ghent University Coupure Links 653 9000 Ghent Belgium. Institute of Molecular Biology and Biotechnology Foundation for Research and Technology-Hellas Vassilika Vouton 70013 Heraklion Greece. Department of Genetic Medicine and Development University of Geneva Medical School and Swiss Institute of Bioinformatics Geneva Switzerland. Institute of Biology Leiden University 2333 BE Leiden The Netherlands. Institute for Zoology: Developmental Biology University of Cologne 50674 Cologne Germany. Department of Plant Pathology University of Georgia - Tifton Campus Tifton GA 31793-5737 USA. National Agricultural Library USDA-ARS Beltsville MD 20705 USA. Department of Entomology and Plant Pathology North Carolina State University Raleigh NC 27695 USA. Department of Plant Pathology Kansas State University Manhattan KS 66506 USA. Department of Biology University of Washington Seattle WA 98105 USA. Chongqing Key Laboratory of Entomology and Pest Control Engineering College of Plant Protection Southwest University Chongqing China. International Joint Laboratory of China-Belgium on Sustainable Crop Pest Control Academy of Agricultural Sciences Southwest University Chongqing China and Ghent University Ghent Belgium. Department of Botany University of Ruhuna Matara Sri Lanka. Human Genome Sequencing Center Department of Human and Molecular Genetics Baylor College of Medicine One Baylor Plaza Houston TX 77030 USA. Department of Biological Sciences University of Cincinnati Cincinnati OH 45221 USA. IPAVE-CIAP-INTA 5020 Cordoba Argentina. Department of Biology Mo

An amendment to this paper has been published and can be accessed via the original article.

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A community perspective on the concept of marine holobionts: State-of-the-art, challenges, and future directions

arXiv

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arXiv 2019年

作者： Dittami, Simon M. Arboleda, Enrique Auguet, Jean-Christophe Bigalke, Arite Briand, Enora Cárdenas, Paco Cardini, Ulisse Decelle, Johan Engelen, Aschwin Eveillard, Damien Gachon, Claire M.M. Griffiths, Sarah Harder, Tilmann Kayal, Ehsan Kazamia, Elena Lallier, Francois H. Medina, Mónica Marzinelli, Ezequiel M. Morganti, Teresa Pons, Laura Núñez Pardo, Soizic Valverde, José Pintado Saha, Mahasweta Selosse, Marc-André Skillings, Derek Stock, Willem Sunagawa, Shinichi Toulza, Eve Vorobev, Alexey Leblanc, Catherine Not, Fabrice Sorbonne Université CNRS Integrative Biology of Marine Models Station Biologique de Roscoff Roscoff29680 MARBEC Université de Montpellier CNRS IFREMER Montpellier Institute for Inorganic and Analytical Chemistry Bioorganic Analytics Friedrich-Schiller-Universität Jena Lessingstrasse 8 JenaD-07743 Laboratoire Phycotoxines Nantes44311 Department of Medicinal Chemistry Uppsala University BMC Box 574 Uppsala75123 Integrative Marine Ecology Department Stazione Zoologica Anton Dohrn Napoli Laboratoire de Physiologie Cellulaire et Végétale Université Grenoble Alpes CNRS CEA INRA Grenoble Cedex38054 Universidade Do Algarve Faro Université de Nantes CNRS Laboratoire des Sciences Numériques de Nantes Nantes44322 Scottish Association for Marine Science Scottish Marine Institute ObanPA371QA School of Science and the Environment Manchester Metropolitan University Manchester University of Bremen Leobener Strasse 6 Bremen28359 Sorbonne Université CNRS Station Biologique de Roscoff Roscoff29680 Institut de Biologie de l'Ecole Normale Supérieure 46 rue d'Ulm Paris75005 Sorbonne Université CNRS Adaptation and Diversity in the Marine Environment Station Biologique de Roscoff Roscoff29680 Department of Biology Pennsylvania State University University ParkPA16801 United States University of Sydney School of Life and Environmental Sciences SydneyNSW2006 Singapore Centre for Environmental Life Sciences Engineering Nanyang Technological University Singapore Sydney Institute of Marine Science MosmanNSW2088 Max Planck Institute for Marine Microbiology Celsiusstraße 1 Bremen28359 Section Biology and Evolution of Marine Organisms Stazione Zoologica Anton Dohrn Villa Comunale Napoli80121 Molecules of Communication and Adaptation of Microorganisms National Museum of Natural History CNRS 57 rue Cuvier Paris75005 Instituto de Investigaciones Marinas Eduardo Cabello 6 Vigo Galicia36208 Department of Benthic Ecology Helmholtz Center for Ocean Research Düsternbrooke

Host-microbe interactions play crucial roles in marine ecosystems, but we still have very little understanding of the mechanisms that govern these relationships, the evolutionary processes that shape them, and their ecological consequences. The holobiont concept is a renewed paradigm in biology that can help describe and understand these complex systems. It posits that a host and its associated microbiota, living together in a long-lasting relationship, form the holobiont, and have to be studied together, as a coherent biological and functional unit, in order to understand the biology, ecology and evolution of the organisms. Here we discuss critical concepts and opportunities in marine holobiont research and identify key challenges in the field. We highlight the potential economic, sociological, and environmental impacts of the holobiont concept in marine biological, evolutionary, and environmental sciences with comparisons to terrestrial science whenever appropriate. A deeper understanding of such complex systems, however, will require further technological and conceptual advances. The most significant challenge will be to bridge functional research on simple and tractable model systems and global approaches. This will require scientists to work together as an (inter)active community in order to address, for instance, ecological and evolutionary questions and the roles of holobionts in biogeochemical cycles. Copyright © 2019, The Authors. All rights reserved.

关键词： Environmental impact

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Publisher Correction: Building an international consortium for tracking coronavirus health status

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Nature medicine 2020年第8期26卷 1309页

作者： Eran Segal Feng Zhang Xihong Lin Gary King Ophir Shalem Smadar Shilo William E Allen Faisal Alquaddoomi Han Altae-Tran Simon Anders Ran Balicer Tal Bauman Ximena Bonilla Gisel Booman Andrew T Chan Ori Cohen Silvano Coletti Natalie Davidson Yuval Dor David A Drew Olivier Elemento Georgina Evans Phil Ewels Joshua Gale Amir Gavrieli Benjamin Geiger Yonatan H Grad Casey S Greene Iman Hajirasouliha Roman Jerala Andre Kahles Olli Kallioniemi Ayya Keshet Ljupco Kocarev Gregory Landua Tomer Meir Aline Muller Long H Nguyen Matej Oresic Svetlana Ovchinnikova Hedi Peterson Jana Prodanova Jay Rajagopal Gunnar Rätsch Hagai Rossman Johan Rung Andrea Sboner Alexandros Sigaras Tim Spector Ron Steinherz Irene Stevens Jaak Vilo Paul Wilmes Department of Computer Science and Applied Mathematics and Department of Molecular Cell Biology Weizmann Institute of Science Rehovot Israel. eran.segal@weizmann.ac.il. Howard Hughes Medical Institute Chevy Chase Maryland USA. Broad Institute of MIT and Harvard Cambridge MA USA. Departments of Biostatistics and Statistics Harvard T.H. Chan School of Public Health Harvard University Cambridge MA USA. Institute for Quantitative Social Science Harvard University Cambridge MA USA. Department of Genetics Perelman School of Medicine University of Pennsylvania Philadelphia PA USA. Department of Computer Science and Applied Mathematics and Department of Molecular Cell Biology Weizmann Institute of Science Rehovot Israel. Pediatric Diabetes Unit Ruth Rappaport Children's Hospital Rambam Healthcare Campus Haifa Israel. Harvard Society of Fellows Harvard University Cambridge MA USA. ETH Zurich NEXUS Personalized Health Technologies Zurich Switzerland. Department of Biological Engineering Massachusetts Institute of Technology Cambridge MA USA. Center for Molecular Biology (ZMBH) University of Heidelberg Heidelberg Germany. Clalit Research Institute Clalit Health Services Ramat Gan Israel. Mapping and Geo-Information Engineering Civil and Environmental Engineering Faculty The Technion Haifa Israel. ETH Zurich Department for Computer Science Zurich University Hospital Zurich Medical Informatics Zurich and SIB Swiss Institute of Bioinformatics Zurich Switzerland. Regen Network Mar del Plata Argentina. Massachusetts General Hospital (MGH) Boston MA USA. Chelonia Applied Science Allschwil Switzerland. IMRIC Developmental Biology and Cancer Research School of Medicine The Hebrew University Jerusalem Israel. Englander Institute for Precision Medicine Weill Cornell Medicine New York NY USA. Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA. Science for Life Laboratory (SciLifeLab) Department of Biochemistry and Biophysics St

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

关键词： Computational platforms and environments Databases Infectious diseases

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Author Correction: Expanded encyclopaedias of DNA elements in the human and mouse genomes

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Nature 2022年第7909期605卷 E3页

作者： Jill E Moore Michael J Purcaro Henry E Pratt Charles B Epstein Noam Shoresh Jessika Adrian Trupti Kawli Carrie A Davis Alexander Dobin Rajinder Kaul Jessica Halow Eric L Van Nostrand Peter Freese David U Gorkin Yin Shen Yupeng He Mark Mackiewicz Florencia Pauli-Behn Brian A Williams Ali Mortazavi Cheryl A Keller Xiao-Ou Zhang Shaimae I Elhajjajy Jack Huey Diane E Dickel Valentina Snetkova Xintao Wei Xiaofeng Wang Juan Carlos Rivera-Mulia Joel Rozowsky Jing Zhang Surya B Chhetri Jialing Zhang Alec Victorsen Kevin P White Axel Visel Gene W Yeo Christopher B Burge Eric Lécuyer David M Gilbert Job Dekker John Rinn Eric M Mendenhall Joseph R Ecker Manolis Kellis Robert J Klein William S Noble Anshul Kundaje Roderic Guigó Peggy J Farnham J Michael Cherry Richard M Myers Bing Ren Brenton R Graveley Mark B Gerstein Len A Pennacchio Michael P Snyder Bradley E Bernstein Barbara Wold Ross C Hardison Thomas R Gingeras John A Stamatoyannopoulos Zhiping Weng University of Massachusetts Medical School Program in Bioinformatics and Integrative Biology Worcester MA USA. The Broad Institute of Harvard and MIT Cambridge MA USA. Department of Genetics School of Medicine Stanford University Palo Alto CA USA. Cold Spring Harbor Laboratory Functional Genomics Cold Spring Harbor NY USA. Altius Institute for Biomedical Sciences Seattle WA USA. Department of Medicine University of Washington School of Medicine Seattle WA USA. Department of Cellular and Molecular Medicine Institute for Genomic Medicine Stem Cell Program Sanford Consortium for Regenerative Medicine University of California San Diego La Jolla CA USA. Program in Computational and Systems Biology Massachusetts Institute of Technology Cambridge MA USA. Center for Epigenomics Department of Cellular and Molecular Medicine University of California San Diego La Jolla CA USA. Ludwig Institute for Cancer Research University of California San Diego La Jolla CA USA. Institute for Human Genetics Department of Neurology University of California San Francisco San Francisco CA USA. Genomics Analysis Laboratory The Salk Institute for Biological Studies La Jolla CA USA. HudsonAlpha Institute for Biotechnology Huntsville AL USA. Division of Biology and Biological Engineering California Institute of Technology Pasadena CA USA. Department of Developmental and Cell Biology University of California Irvine Irvine CA USA. Department of Biochemistry and Molecular Biology The Pennsylvania State University University Park PA USA. Environmental Genomics and Systems Biology Division Lawrence Berkeley National Laboratory Berkeley CA USA. Department of Genetics and Genome Sciences Institute for Systems Genomics UConn Health Farmington CT USA. Département de Biochimie et Médecine Moléculaire Université de Montréal Montréal Quebec Canada. Division of Experimental Medicine McGill University Montreal Quebec Canada. Institut de Recherches Cliniques de Montréal (IR

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Correction: Corrigendum: Genome sequences of wild and domestic bactrian camels

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Nature Communications 2013年第1期4卷 1-1页

作者： Jirimutu Zhihong Sun Heping Zhang Jianmei Li Qing Li Zhiling Jia Zhaoxia Wang Juan Wang Lei Pan Chunyan Guo Wei Liu Liang Ming Temuulen Aiying Cui Yi Li Min Zhang Chen Chen Zhen Wang Guohui Ding Yixiang Shi Feng Qiu Yunqin Chen Jing Li Yixue Li Shengdi Li Guangyong Zheng Chao Li Xiaoyan Tang Shen Niu Ze Xu Fei He Baohong Liu Junhui Gao Gangliang Chen Yamin Sun Lei Wang Surong Hasi Siriguleng Yu Subudenggerile Narenmanduhu Yan Zhang Chuan He Hongwei Gao Yongcan Chen Lele Zhao Wenjing Zhao Tao Sun Zhengxiao Zhai He Meng Wenbin Zhang Wurentaodi Mijiddorj Batmunkh Batsukh Ts Narenbatu Unierhu Turigenbayila Shirzana Bat-Ireedui Banzragch Baysgalan Zikui Sun Yaichil Ganerdene Dabxilt Erdemt Altansha Altansukh Tuya Liu Minhui Cao Aruuntsever Bayart Hosblig A Zha-ti Tunteg Baldan Tuman Bayaer Key Laboratory of Dairy Biotechnology and Engineering Ministry of Education College of Food Science and Engineering Inner Mongolia Agricultural University 306 Zhaowuda Road Huhhot 010018 China Shanghai Center for Bioinformation Technology 1278 Keyuan Road Shanghai 201203 China Key Lab of Systems Biology Shanghai Institutes for Biological Sciences Chinese Academy of Sciences 320 Yueyang Road Shanghai 200031 China EG Information Technology Enterprise (EGI) Encode Genomics Biotechnology Co. Ltd. 100 Qinzhou Road Shanghai 200235 China School of Chemistry and Chemical Engineering Shanghai Jiaotong University 800 Dongchuan Road Shanghai 200240 China College of Life Science and Biotechnology Shanghai Jiaotong University 800 Dongchuan Road Shanghai 200240 China School of Life Sciences and Technology Tongji University 1239 Siping Road Shanghai 200092 China Bactrian Camel Academe of Altai Xingjiang Wangyuan Camel Milk Limited Company 99 Huanchengdong Road Fuhai County Xinjiang 836500 China Tianjin Key Laboratory of Microbial Functional Genomics TEDA School of Biological Sciences and Biotechnolgy Nankai University 23 Hongda Street TEDA Tianjin 300457 China Key Laboratory of Clinical Diagnosis and Treatment Technology in Animal Disease Ministry of Agriculture College of Veterinary Medicine Inner Mongolia Agricultural University 306 Zhaowuda Road Huhhot 010018 China Virginia Bioinformatics Institute Virginia Tech Washington Street MC0477 Blacksburg 24061 Virginia USA Shanghai Key Laboratory of Veterinary Biotechnology School of Agriculture and Biology Shanghai Jiaotong University 800 Dongchuan Road Shanghai 200240 China Shanghai Quality Safety Center of Agricultural Products 779 Xianxiaxi Road Shanghai 200335 China Shanghai Personal Biotechnology Limited Company 777 Longwu Road Shanghai 200336 China Bactrian Camel Institute of Alsha Inner Mongolia 16 Tuerhute Road Bayanhot Inner Mongolia 750306 China Mongolian Wild Camel Protection Area Mini

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