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arXiv 2022年

作者： Callahan, Tiffany J. Stefanski, Adrianne L. Wyrwa, Jordan M. Zeng, Chenjie Ostropolets, Anna Banda, Juan M. Baumgartner, William A. Boyce, Richard D. Casiraghi, Elena Coleman, Ben D. Collins, Janine H. Deakyne-Davies, Sara J. Feinstein, James A. Haendel, Melissa A. Lin, Asiyah Y. Martin, Blake Matentzoglu, Nicolas A. Meeker, Daniella Reese, Justin Sinclair, Jessica Taneja, Sanya B. Trinkley, Katy E. Vasilevsky, Nicole A. Williams, Andrew Zhang, Xingman A. Denny, Joshua C. Robinson, Peter N. Ryan, Patrick Hripcsak, George Bennett, Tellen D. Hunter, Lawrence E. Kahn, Michael G. Computational Bioscience Program University of Colorado Anschutz Medical Campus AuroraCO80045 United States Department of Biomedical Informatics Columbia University Irving Medical Center New YorkNY10032 United States Department of Physical Medicine and Rehabilitation School of Medicine University of Colorado Anschutz Medical Campus AuroraCO80045 United States National Human Genome Research Institute National Institutes of Health BethesdaMD20892 United States Department of Computer Science Georgia State University AtlantaGA30303 United States Department of Biomedical Informatics University of Pittsburgh School of Medicine PittsburghPA15260 United States Computer Science Università degli Studi di Milano Milan20122 Italy Division of Environmental Genomics and Systems Biology Lawrence Berkeley National Laboratory BerkeleyCA94720 United States The Jackson Laboratory for Genomic Medicine FarmingtonCT06032 United States Department of Haematology University of Cambridge Cambridge United Kingdom Department of Research Informatics & Data Science Analytics Resource Center Children’s Hospital Colorado AuroraCO80045 United States University of Colorado Anschutz School of Medicine AuroraCO80045 United States Center for Health AI University of Colorado Anschutz Medical Campus AuroraCO80045 United States Departments of Biomedical Informatics and Pediatrics University of Colorado School of Medicine AuroraCO80045 United States Semanticly Athens Greece Yale School of Medicine New HavenCT06510 United States HealthLinc ValparaisoIN46383 United States Intelligent Systems Program University of Pittsburgh PittsburghPA15260 United States Department of Family Medicine University of Colorado Anschutz School of Medicine AuroraCO80045 United States Translational and Integrative Sciences Lab University of Colorado Anschutz Medical Campus AuroraCO80045 United States Tufts Institute for Clinical Research and Health Policy Studies Tufts University Bos

Background: Common data models solve many challenges of standardizing electronic health record (EHR) data, but are unable to semantically integrate all the resources needed for deep phenotyping. Open Biological and Biomedical Ontology (OBO) Foundry ontologies provide computable representations of biological knowledge and enable the integration of heterogeneous data. However, mapping EHR data to OBO ontologies requires significant manual curation and domain expertise. Objective: We introduce OMOP2OBO, an algorithm for mapping Observational Medical Outcomes Partnership (OMOP) vocabularies to OBO ontologies. Results: Using OMOP2OBO, we produced mappings for 92,367 conditions, 8611 drug ingredients, and 10,673 measurement results, which covered 68-99% of concepts used in clinical practice when examined across 24 hospitals. When used to phenotype rare disease patients, the mappings helped systematically identify undiagnosed patients who might benefit from genetic testing. Conclusions: By aligning OMOP vocabularies to OBO ontologies our algorithm presents new opportunities to advance EHR-based deep phenotyping. © 2022, CC BY.

关键词： Ontology

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Correction to: A multi-step genomic approach prioritized TBKBP1 gene as relevant for multiple sclerosis susceptibility

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Journal of neurology 2022年第8期269卷 4523-4524页

作者： Melissa Sorosina Nadia Barizzone Ferdinando Clarelli Santosh Anand Sara Lupoli Erika Salvi Eleonora Mangano Roberta Bordoni Tina Roostaei Elisabetta Mascia Miriam Zuccalà Domizia Vecchio Paola Cavalla Silvia Santoro Laura Ferrè Alen Zollo Cristina Barlassina Daniele Cusi Vittorio Martinelli Giancarlo Comi Maurizio Leone Massimo Filippi Nikolaos A Patsopoulos Philip L De Jager Gianluca De Bellis Federica Esposito Sandra D'Alfonso Filippo Martinelli Boneschi Laboratory of Human Genetics of Neurological Disorders Division of Neuroscience IRCCS San Raffaele Scientific Institute 20132 Milan Italy. Department of Health Sciences Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) University of Eastern Piedmont Avogadro University 28100 Novara Italy. Department of Informatics Systems and Communications (DISCo) University of Milano-Bicocca Milan Italy. Department of Health Sciences University of Milan 20139 Milan Italy. Neuroalgology Unit Fondazione IRCCS Istituto Neurologico "Carlo Besta" 20133 Milan Italy. National Research Council of Italy Institute for Biomedical Technologies Segrate 20090 Milan Italy. Center for Translational and Computational Neuroimmunology Department of Neurology and the Taub Institute for Research On Alzheimer's Disease and the Aging Brain Columbia University Irving Medical Center New York NY 10032 USA. MS Centre SCDU Neurology AOU Maggiore Della Carità Department of Translational Medicine Interdisciplinary Research Center of Autoimmune Diseases (IRCAD) University of Eastern Piedmont Avogadro 28100 Novara Italy. MS Center Department of Neuroscience and Mental Health City of Health and Science University Hospital of Torino 10126 Turin Italy. Neurology Unit IRCCS San Raffaele Scientific Institute 20132 Milan Italy. Department of Pathophysiology and Transplantation (DEPT) Dino Ferrari Centre Neuroscience Section University of Milan 20122 Milan Italy. Bio4Dreams Business Nursery for Life Sciences Piazzale Principessa Clotilde 4/A 20121 Milan Italy. SC Neurologia Dipartimento Di Scienze Mediche IRCCS Casa Sollievo Della Sofferenza San Giovanni Rotondo Italy. Vita-Salute San Raffaele University 20132 Milan Italy. Neuroimaging Research Unit Division of Neuroscience IRCCS San Raffaele Scientific Institute 20132 Milan Italy. Neurophysiology Unit IRCCS San Raffaele Scientific Institute IRCCS San Raffaele Scientific Institute 20132 Milan Italy. Systems Biology and Comp

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Neuroscience needs Network Science

arXiv

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arXiv 2023年

作者： Barabási, Dániel L. Bianconi, Ginestra Bullmore, Ed Burgess, Mark Chung, SueYeon Eliassi-Rad, Tina George, Dileep Kovács, István A. Makse, Hernán Papadimitriou, Christos Nichols, Thomas E. Sporns, Olaf Stachenfeld, Kim Toroczkai, Zoltán Towlson, Emma K. Zador, Anthony M. Zeng, Hongkui Barabási, Albert-László Bernard, Amy Buzsáki, György Biophysics Program Harvard University CambridgeMA United States Department of Molecular and Cellular Biology Center for Brain Science Harvard University CambridgeMA United States School of Mathematical Sciences Queen Mary University of London LondonE1 4NS United Kingdom The Alan Turing Institute The British Library LondonNW1 2DB United Kingdom Department of Psychiatry Wolfson Brain Imaging Centre University of Cambridge Cambridge United Kingdom ChiTek-i AS Oslo Norway Center for Neural Science New York University New YorkNY United States Center for Computational Neuroscience Flatiron Institute Simons Foundation New YorkNY United States Network Science Institute Northeastern University BostonMA United States Khoury College of Computer Sciences Northeastern University BostonMA United States Santa Fe Institute Santa FeNM United States DeepMind United Kingdom Department of Physics and Astronomy Northwestern University 633 Clark Street EvanstonIL60208 United States Northwestern Institute on Complex Systems Chambers Hall Northwestern University 600 Foster St EvanstonIL60208 United States Levich Institute and Physics Department City College of New York New YorkNY10031 United States Columbia University New YorkNY10027 United States Big Data Institute Li Ka Shing Centre for Health Information and Discovery Nuffield Department of Population Health University of Oxford OxfordOX3 7LF United Kingdom Wellcome Centre for Integrative Neuroimaging FMRIB Nuffield Department of Clinical Neurosciences University of Oxford OxfordOX3 9DU United Kingdom Department of Psychological and Brain Sciences Indiana University BloomingtonIN47405 United States Department of Physics University of Notre Dame 225 Nieuwland Science Hall Notre DameIN46556 United States Department of Computer Science Department of Physics and Astronomy Hotchkiss Brain Institute Children’s Research Hospital University of Calgary CalgaryAB Canada Cold Spring Harbor Laboratory

The brain is a complex system comprising a myriad of interacting elements, posing significant challenges in understanding its structure, function, and dynamics. Network science has emerged as a powerful tool for studying such intricate systems, offering a framework for integrating multiscale data and complexity. Here, we discuss the application of network science in the study of the brain, addressing topics such as network models and metrics, the connectome, and the role of dynamics in neural networks. We explore the challenges and opportunities in integrating multiple data streams for understanding the neural transitions from development to healthy function to disease, and discuss the potential for collaboration between network science and neuroscience communities. We underscore the importance of fostering interdisciplinary opportunities through funding initiatives, workshops, and conferences, as well as supporting students and postdoctoral fellows with interests in both disciplines. By uniting the network science and neuroscience communities, we can develop novel network-based methods tailored to neural circuits, paving the way towards a deeper understanding of the brain and its functions. © 2023, CC BY-NC-SA.

关键词： Complex networks

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QUAREP-LiMi: A community-driven initiative to establish guidelines for quality assessment and reproducibility for instruments and images in light microscopy

arXiv

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arXiv 2021年

作者： Nelson, Glyn Boehm, Ulrike Bagley, Steve Bajcsy, Peter Bischof, Johanna Brown, Claire M. Dauphin, Aurélien Dobbie, Ian M. Eriksson, John E. Faklaris, Orestis Fernandez-Rodriguez, Julia Ferrand, Alexia Gelman, Laurent Gheisari, Ali Hartmann, Hella Kukat, Christian Laude, Alex Mitkovski, Miso Munck, Sebastian North, Alison J. Rasse, Tobias M. Resch-Genger, Ute Schuetz, Lucas C. Seitz, Arne Strambio-De-Castillia, Caterina Swedlow, Jason R. Alexopoulos, Ioannis Aumayr, Karin Avilov, Sergiy Bakker, Gert-Jan Bammann, Rodrigo R. Bassi, Andrea Beckert, Hannes Beer, Sebastian Belyaev, Yury Bierwagen, Jakob Birngruber, Konstantin A. Bosch, Manel Breitlow, Juergen Cameron, Lisa A. Chalfoun, Joe Chambers, James J. Chen, Chieh-Li Conde-Sousa, Eduardo Corbett, Alexander D. Cordelieres, Fabrice P. Nery, Elaine Del Dietzel, Ralf Eismann, Frank Fazeli, Elnaz Felscher, Andreas Fried, Hans Gaudreault, Nathalie Goh, Wah Ing Guilbert, Thomas Hadleigh, Roland Hemmerich, Peter Holst, Gerhard A. Itano, Michelle S. Jaffe, Claudia B. Jambor, Helena K. Jarvis, Stuart C. Keppler, Antje Kirchenbuechler, David Kirchner, Marcel Kobayashi, Norio Krens, Gabriel Kunis, Susanne Lacoste, Judith Marcello, Marco Martins, Gabriel G. Metcalf, Daniel J. Mitchell, Claire A. Moore, Joshua Mueller, Tobias Nelson, Michael S. Ogg, Stephen Onami, Shuichi Palmer, Alexandra L. Paul-Gilloteaux, Perrine Pimentel, Jaime A. Plantard, Laure Podder, Santosh Rexhepaj, Elton Royon, Arnaud Saari, Markku A. Schapman, Damien Schoonderwoert, Vincent Schroth-Diez, Britta Schwartz, Stanley Shaw, Michael Spitaler, Martin Stoeckl, Martin T. Sudar, Damir Teillon, Jeremie Terjung, Stefan Thuenauer, Roland Wilms, Christian D. Wright, Graham D. Nitschke, Roland Bioimaging Unit Newcastle University Newcastle upon TyneNE4 5PL United Kingdom Janelia Research Campus Howard Hughes Medical Institute AshburnVA20147 United States Visualisation Irradiation & Analysis Cancer Research UK Manchester Institute Alderley Park Macclesfield United Kingdom National Institute of Standards and Technology GaithersburgMD20899 United States Euro-BioImaging Heidelberg69117 Germany McGill University MontrealQCH3G 0B1 Canada Unité Génétique et Biologie du Développement U934 PICT-IBiSA Institut Curie/Inserm CNRS PSL Research University Paris75005 France Department of Biochemistry University of Oxford Oxford OxonOX1 3QU United Kingdom Turku Bioscience Centre Euro-Bioimaging ERIC Turku20520 Finland Biocampus CNRS UAR 3426 Montpellier34293 France Centre for Cellular Imaging Sahlgrenska Academy University of Gothenburg Gothenburg40530 Sweden Imaging Core Facility Biozentrum University of Basel Basel4056 Switzerland Friedrich Miescher Institute for Biomedical Research Basel4058 Switzerland Light Microscopy Facility CMCB Technology Platform TU Dresden Dresden01307 Germany FACS & Imaging Core Facility Max Planck Institute for Biology of Ageing Cologne50931 Germany Light Microscopy Facility Max Planck Institute of Experimental Medicine Goettingen37075 Germany VIB BioImaging Core VIB-KU Leuven Center for Brain and Disease Research KU Leuven Department for Neuroscience Flanders Leuven3000 Belgium The Rockefeller University New YorkNY10065 United States Scientific Service Group Microscopy Max Planck Institute for Heart and Lung Research Bad Nauheim61231 Germany Division Biophotonics Federal Institute for Materials Research and Testing Berlin12489 Germany European Molecular Biology Laboratory Advanced Light Microscopy Facility Heidelberg69117 Germany Faculty of Life Sciences Ecole Polytechnique Fédérale de Lausanne Vaud Lausanne1015 Switzerland Program in Molecular Medicine University of Massachusetts Medica

A modern day light microscope has evolved from a tool devoted to making primarily empirical observations to what is now a sophisticated, quantitative device that is an integral part of both physical and life science research. Nowadays, microscopes are found in nearly every experimental laboratory. However, despite their prevalent use in capturing and quantifying scientific phenomena, neither a thorough understanding of the principles underlying quantitative imaging techniques nor appropriate knowledge of how to calibrate, operate and maintain microscopes can be taken for granted. This is clearly demonstrated by the well-documented and widespread difficulties that are routinely encountered in evaluating acquired data and reproducing scientific experiments. Indeed, studies have shown that more than 70% of researchers have tried and failed to repeat another scientist’s experiments, while more than half have even failed to reproduce their own experiments1. One factor behind the reproducibility crisis of experiments published in scientific journals is the frequent underreporting of imaging methods caused by a lack of awareness and/or a lack of knowledge of the applied technique2. Whereas quality control procedures for some methods used in biomedical research, such as genomics (e.g., DNA sequencing, RNA-seq) or cytometry, have been introduced (e.g. ENCODE3), this issue has not been tackled for optical microscopy instrumentation and images. Although many calibration standards and protocols have been published, there is a lack of awareness and agreement on common standards and guidelines for quality assessment and reproducibility4. In April 2020, the QUality Assessment and REProducibility for Instruments and Images in Light Microscopy (QUAREP-LiMi) initiative5 was formed. This initiative comprises imaging scientists from academia and industry who share a common interest in achieving a better understanding of the performance and limitations of microscopes and improved qualit

关键词： DNA sequences

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Beyond Low Earth Orbit: Biological Research, Artificial Intelligence, and Self-Driving Labs

arXiv

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arXiv 2021年

作者： Sanders, Lauren M. Yang, Jason H. Scott, Ryan T. Qutub, Amina Ann Martin, Hector Garcia Berrios, Daniel C. Hastings, Jaden J.A. Rask, Jon Mackintosh, Graham Hoarfrost, Adrienne L. Chalk, Stuart Kalantari, John Khezeli, Kia Antonsen, Erik L. Babdor, Joel Barker, Richard Baranzini, Sergio E. Beheshti, Afshin Delgado-Aparicio, Guillermo M. Glicksberg, Benjamin S. Greene, Casey S. Haendel, Melissa Hamid, Arif A. Heller, Philip Jamieson, Daniel Jarvis, Katelyn J. Komarova, Svetlana V. Komorowski, Matthieu Kothiyal, Prachi Mahabal, Ashish Manor, Uri Mason, Christopher E. Matar, Mona Mias, George I. Miller, Jack Myers, Jerry G. Nelson, Charlotte Oribello, Jonathan Park, Seung-Min Parsons-Wingerter, Patricia Prabhu, R.K. Reynolds, Robert J. Saravia-Butler, Amanda Saria, Suchi Sawyer, Aenor Singh, Nitin Kumar Soboczenski, Frank Snyder, Michael Soman, Karthik Theriot, Corey A. van Valen, David Venkateswaran, Kasthuri Warren, Liz Worthey, Liz Zitnik, Marinka Costes, Sylvain V. Blue Marble Space Institute of Science Space Biosciences Division NASA Ames Research Center Moffett Field CA94035 United States Center for Emerging and Re-Emerging Pathogens Department of Microbiology Biochemistry and Molecular Genetics Rutgers New Jersey Medical School NewarkNJ07103 United States KBR Space Biosciences Division NASA Ames Research Center Moffett Field CA94035 United States AI MATRIX Consortium Department of Biomedical Engineering University of Texas San Antonio and UT Health Sciences San AntonioTX78249 United States Biological Systems and Engineering Division Lawrence Berkeley National Lab. BerkeleyCA94608 United States DOE Agile BioFoundry EmeryvilleCA94608 United States Joint BioEnergy Institute EmeryvilleCA94608 United States Department of Physiology and Biophysics Weill Cornell Medicine New YorkNY10065 United States Office of the Center Director NASA Ames Research Center Moffett Field CA94035 United States Bay Area Environmental Research Institute NASA Ames Research Center Moffett Field CA94035 United States Space Biosciences Division NASA Ames Research Center Moffett Field CA94035 United States Department of Chemistry University of North Florida JacksonvilleFL32224 United States Center for Individualized Medicine Department of Surgery Department of Quantitative Health Sciences Mayo Clinic RochesterMN55905 United States Department of Emergency Medicine Center for Space Medicine Baylor College of Medicine HoustonTX77030 United States Department of Microbiology and Immunology Department of Otolaryngology Head and Neck Surgery University of California San Francisco San FranciscoCA94143 United States The Gilroy AstroBiology Research Group The University of Wisconsin - Madison MadisonWI53706 United States Weill Institute for Neurosciences Department of Neurology University of California San Francisco San FranciscoCA94158 United States Data Science Analytics Georgia Institute of Technology Lima15024

Space biology research aims to understand fundamental effects of spaceflight on organisms, develop foundational knowledge to support deep space exploration, and ultimately bioengineer spacecraft and habitats to stabilize the ecosystem of plants, crops, microbes, animals, and humans for sustained multi-planetary life. To advance these aims, the field leverages experiments, platforms, data, and model organisms from both spaceborne and ground-analog studies. As research is extended beyond low Earth orbit, experiments and platforms must be maximally autonomous, light, agile, and intelligent to expedite knowledge discovery. Here we present a summary of recommendations from a workshop organized by the National Aeronautics and Space Administration on artificial intelligence, machine learning, and modeling applications which offer key solutions toward these space biology challenges. In the next decade, the synthesis of artificial intelligence into the field of space biology will deepen the biological understanding of spaceflight effects, facilitate predictive modeling and analytics, support maximally autonomous and reproducible experiments, and efficiently manage spaceborne data and metadata, all with the goal to enable life to thrive in deep space. © 2021, CC BY.

关键词： Predictive analytics

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Beyond Low Earth Orbit: Biomonitoring, Artificial Intelligence, and Precision Space Health

arXiv

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arXiv 2021年

作者： Scott, Ryan T. Antonsen, Erik L. Sanders, Lauren M. Hastings, Jaden J.A. Park, Seung-Min Mackintosh, Graham Reynolds, Robert J. Hoarfrost, Adrienne L. Sawyer, Aenor Greene, Casey S. Glicksberg, Benjamin S. Theriot, Corey A. Berrios, Daniel C. Miller, Jack Babdor, Joel Barker, Richard Baranzini, Sergio E. Beheshti, Afshin Chalk, Stuart Delgado-Aparicio, Guillermo M. Haendel, Melissa Hamid, Arif A. Heller, Philip Jamieson, Daniel Jarvis, Katelyn J. Kalantari, John Khezeli, Kia Komarova, Svetlana V. Komorowski, Matthieu Kothiyal, Prachi Mahabal, Ashish Manor, Uri Martin, Hector Garcia Mason, Christopher E. Matar, Mona Mias, George I. Myers, Jerry G. Nelson, Charlotte Oribello, Jonathan Parsons-Wingerter, Patricia Prabhu, R.K. Qutub, Amina Ann Rask, Jon Saravia-Butler, Amanda Saria, Suchi Singh, Nitin Kumar Soboczenski, Frank Snyder, Michael Soman, Karthik van Valen, David Venkateswaran, Kasthuri Warren, Liz Worthey, Liz Yang, Jason H. Zitnik, Marinka Costes, Sylvain V. KBR Space Biosciences Division NASA Ames Research Center Moffett FieldCA94035 United States Department of Emergency Medicine Center for Space Medicine Baylor College of Medicine HoustonTX77030 United States Blue Marble Space Institute of Science Space Biosciences Division NASA Ames Research Center Moffett FieldCA94035 United States Department of Physiology and Biophysics Weill Cornell Medicine New YorkNY10065 United States Department of Urology Department of Radiology Stanford University School of Medicine StanfordCA94305 United States Bay Area Environmental Research Institute NASA Ames Research Center Moffett FieldCA94035 United States Mortality Research & Consulting Inc. HoustonTX77058 United States Space Biosciences Division NASA Ames Research Center Moffett FieldCA94035 United States UC Space Health Department of Orthopaedic Surgery University of California San Francisco San FranciscoCA94143 United States Center for Health AI Department of Biochemistry and Molecular Genetics University of Colorado School of Medicine Anschutz Medical Campus AuroraCO80045 United States Hasso Plattner Institute for Digital Health at Mount Sinai Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New YorkNY10065 United States Department of Preventive Medicine and Community Health UTMB GalvestonTX77551 United States Human Health and Performance Directorate NASA Johnson Space Center HoustonTX77058 United States Department of Microbiology and Immunology Department of Otolaryngology Head and Neck Surgery University of California San Francisco San FranciscoCA94143 United States The Gilroy AstroBiology Research Group The University of Wisconsin Madison MadisonWI53706 United States Weill Institute for Neurosciences Department of Neurology University of California San Francisco San FranciscoCA94158 United States Department of Chemistry University of North Florida JacksonvilleFL32224 United States Data Scienc

Human space exploration beyond low Earth orbit will involve missions of significant distance and duration. To effectively mitigate myriad space health hazards, paradigm shifts in data and space health systems are necessary to enable Earth-independence, rather than Earth-reliance. Promising developments in the fields of artificial intelligence and machine learning for biology and health can address these needs. We propose an appropriately autonomous and intelligent Precision Space Health system that will monitor, aggregate, and assess biomedical statuses;analyze and predict personalized adverse health outcomes;adapt and respond to newly accumulated data;and provide preventive, actionable, and timely insights to individual deep space crew members and iterative decision support to their crew medical officer. Here we present a summary of recommendations from a workshop organized by the National Aeronautics and Space Administration, on future applications of artificial intelligence in space biology and health. In the next decade, biomonitoring technology, biomarker science, spacecraft hardware, intelligent software, and streamlined data management must mature and be woven together into a Precision Space Health system to enable humanity to thrive in deep space. © 2021, CC BY.

关键词： Earth (planet)

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LifeTime and improving European healthcare through cell-based interceptive medicine (vol 587, pg 377, 2020)

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NATURE 2021年第7852期592卷 E8-E8页

作者： Rajewsky, Nikolaus Almouzni, Genevieve Gorski, Stanislaw A. Aerts, Stein Amit, Ido Bertero, Michela G. Bock, Christoph Bredenoord, Annelien L. Cavalli, Giacomo Chiocca, Susanna Clevers, Hans De Strooper, Bart Eggert, Angelika Ellenberg, Jan Fernandez, Xose M. Figlerowicz, Marek Gasser, Susan M. Hubner, Norbert Kjems, Jorgen Knoblich, Jurgen A. Krabbe, Grietje Lichter, Peter Linnarsson, Sten Marine, Jean-Christophe Marioni, John C. Marti-Renom, Marc A. Netea, Mihai G. Nickel, Dorthe Nollmann, Marcelo Novak, Halina R. Parkinson, Helen Piccolo, Stefano Pinheiro, Ines Pombo, Ana Popp, Christian Reik, Wolf Roman-Roman, Sergio Rosenstiel, Philip Schultze, Joachim L. Stegle, Oliver Tanay, Amos Testa, Giuseppe Thanos, Dimitris Theis, Fabian J. Torres-Padilla, Maria-Elena Valencia, Alfonso Vallot, Celine van Oudenaarden, Alexander Vidal, Marie Voet, Thierry Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany Charité-Universitätsmedizin Berlin Germany Berlin Institute of Health (BIH) Berlin Germany German Center for Cardiovascular Research (DZHK) Partner Site Berlin Berlin Germany Institute for Biology Humboldt University of Berlin Berlin Germany Cardiovascular and Metabolic Sciences Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany Department of Pediatric Oncology/Hematology Charité-Universitätsmedizin Berlin Berlin Germany Institut Curie CNRS PSL Research University Sorbonne Université Nuclear Dynamics Unit Equipe Labellisée Ligue contre le cancer Paris France VIB Center for Brain and Disease Research Leuven Belgium Department of Human Genetics KU Leuven Leuven Belgium Department of Neurosciences KU Leuven Leuven Belgium UK Dementia Research Institute at UCL University College London London UK Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK Department of Immunology Weizmann Institute of Science Rehovot Israel Centre for Genomic Regulation (CRG) Barcelona Institute of Science and Technology Barcelona Spain CNAG-CRG Centre for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain Universitat Pompeu Fabra Barcelona Spain ICREA Barcelona Spain CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria Department of Laboratory Medicine Medical University of Vienna Vienna Austria Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria Department of Medical Humanities Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Institute of Human Genetics UMR 9002 CNRS and University of Montpellier Montpellier France Department of Experimental Oncology IEO European Institute of Oncology IRCCS Milan Italy Department of Oncology and Hemato

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Author Correction: Defective HNF4alpha-dependent gene expression as a driver of hepatocellular failure in alcoholic hepatitis

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Nature Communications 2023年第1期14卷 1页

作者： Josepmaria Argemi Joel P. Gue Meritxell Ventura-Cots Ramon Bataller Maria U. Latasa Carmen Berasain Matias A. Avila Stephen R. Atkinson Mark R. Thursz Ilya O. Blokhin Claes Wahlestedt Veronica Massey Joaquin Cabezas Gemma Odena Juan J. Lozano Juan Caballeria Pau Sancho-Bru Derek Van Booven Aaron Bell Juan L. Gomez Satdarshan P. Monga Sheng Cao Juan P. Arab Vijay H. Shah Lawrence A. Vernetti D. Lansing Taylor Lia R. Edmunds Michael J. Jurczak Constantino Fondevila Peter Stärkel Laurent Dubuquoy Alexandre Louvet Philippe Mathurin Tomas Aragon Jose Altamirano Marsha Y. Morgan Shinji Furuya Ivan Rusyn Carolin Lackner Jelena Mann Division of Gastroenterology Hepatology and Nutrition Pittsburgh Liver Research Center University of Pittsburgh Medical Center (UPMC) Pittsburgh PA 15261 USA Liver Unit Clínica Universidad de Navarra University of Navarra Pamplona 31008 Spain Division of Gastroenterology and Hepatology Departments of Medicine and Nutrition and Bowles Center for Alcohol Studies University of North Carolina at Chapel Hill Chapel Hill NC 27516 USA Hepatology Program Center for Applied Medical Research (CIMA) University of Navarra Pamplona 31008 Spain Centro de Investigacion Biomedica en Red Enfermedades Hepáticas y Digestivas (CIBERehd) Madrid 28029 Spain Division of Digestive Diseases Department of Surgery and Cancer Imperial College London London SW7 2AZ UK Center for Therapeutic Innovation and Department of Psychiatry and Behavioral Sciences University of Miami Miller School of Medicine Miami FL 33136 USA Departament of Hepatology Marqués de Valdecilla University Hospital Santander 39008 Spain Institut d’Investigacions Biomèdiques August Pi i Sunyer (IDIBAPS) Barcelona 08036 Spain John P. Hussman Institute of Human Genomics. Miller School of Medicine University of Miami Miami FL 33136 USA Departments of Pathology and Medicine Pittsburgh Liver Research Center University of Pittsburgh School of Medicine Pittsburgh PA 15261 USA Division of Gastroenterology and Hepatology Mayo Clinic Rochester MN 55905 USA Departamento de Gastroenterologia Escuela de Medicina Pontificia Universidad Catolica de Chile Santiago Chile University of Pittsburgh Drug Discovery Institute Department of Computational & Systems Biology University of Pittsburgh Pittsburgh PA 15261 USA Department of Medicine Division of Endocrinology and Metabolism Center for Metabolic and Mitochondrial Medicine University of Pittsburgh Pittsburgh PA 15261 USA Liver Transplant Unit Department of Surgery Hospital Clinic University of Barcelona Barcelona 08036 Spain Service d’Hépato-gastroentérologie

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Comprehensive reanalysis for CNVs in ES data from unsolved rare disease cases results in new diagnoses

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npj Genomic Medicine 2024年第1期9卷 49页

作者： Demidov, German Yaldiz, Burcu Garcia-Pelaez, José de Boer, Elke Schuermans, Nika Van de Vondel, Liedewei Paramonov, Ida Johansson, Lennart F. Musacchia, Francesco Benetti, Elisa Bullich, Gemma Sablauskas, Karolis Beltran, Sergi Gilissen, Christian Hoischen, Alexander Ossowski, Stephan de Voer, Richarda Lohmann, Katja Oliveira, Carla Topf, Ana Vissers, Lisenka E. L. M. Zguro, Kristina Zara, Federico Zaganas, Ioannis Yépez, Vicente A. Wirth, Brunhilde Webb, David Verdin, Hannah Van Nieuwenhove, Erika van Montfrans, Joris van Heurck, Roxane van der Veken, Lars Valle, Laura Uva, Paolo Udd, Bjarne Trimouille, Aurelien Thompson, Rachel Tartaglia, Marco Sznajer, Yves Striano, Pasquale Steinke-Lange, Verena Spilioti, Martha Scudieri, Paolo Schröck, Evelin Schon, Katherine Scala, Marcello Savarese, Marco Santen, Gijs W. E. Rump, Andreas Ruivenkamp, Claudia A. L. Roos, Andreas Rooryck, Caroline Riva, Antonella Renieri, Alessandra Ratnaike, Thiloka Radio, Francesca Clementina Privitera, Flavia De la Paz, Manuel Posada Poppe, Bruce Polavarapu, Kiran Platzer, Konrad Peterlin, Borut Pérez-Dueñas, Belén Pauly, Martje Parrini, Elena Olimpio, Catarina Reghan, Mary O. de Benito, Daniel Natera Osorio, Andrés Nascimento Munell, Francina Münchau, Alexander Moortgat, Stéphanie Monestier, Olivier Molnar, Maria Judit Meunier, Colombine Mertes, Christian Mei, Davide Maystadt, Isabelle May, Patrick Maver, Ales Mathioudakis, Lambros Masclaux, Frédéric Mary, Sandrine Delgado, Beatriz Martínez Marcé-Grau, Anna Malaichamy, Sivasankar Macaya, Alfons Luknárová, Rebeka Martín, Estrella López Lochmüller, Hanns Leitão, Elsa Lederer, Damien Leavis, Helen Laner, Andreas Lacombe, Didier Krass, Leon Korff, Christian Kokosali, Evgenia Karakaya, Mert Karadurmus, Deniz Kapaki, Elisabeth Johari, Mridul Iacomino, Michele Huibers, Manon Horvath, Rita Holinski-Feder, Elke Hoffer, Mariette J. V. Herzog, Rebecca Hemelsoet, Dimitri Bouveret, Eva Hammar Haimel, Matthias Hackman, Peter Guerrini, Renzo Grimbacher, Bodo Greally, Marie Ghani, Hamidah Gagneur, Julien Institute of Medical Genetics and Applied Genomics University of Tübingen Tübingen Germany Institute for Bioinformatics and Medical Informatics (IBMI) University of Tübingen Tübingen Germany Department of Human Genetics Radboud University Medical Center Nijmegen Netherlands Department of Clinical Genetics Maastricht University Medical Center Maastricht Netherlands i3S - Instituto de Investigação e Inovação em Saúde Rua Alfredo Allen 208 Porto 4200-135 Portugal IPATIMUP - Institute of Molecular Pathology and Immunology University of Porto Porto Portugal Faculty of Medicine University of Porto Porto Portugal Donders Institute for Brain Cognition and Behaviour Radboud University Nijmegen Netherlands Department of Clinical Genetics Erasmus MC University Medical Center Rotterdam Netherlands Center for Medical Genetics Ghent University Hospital Ghent Belgium Translational Neurosciences Faculty of Medicine and Health Sciences University of Antwerp Antwerp Belgium Laboratory of Neuromuscular Pathology Institute Born-Bunge University of Antwerp Antwerp Belgium Centro Nacional de Análisis Genómico (CNAG) C/Baldiri Reixac 4 Barcelona 08028 Spain Universitat de Barcelona (UB) Barcelona Spain University of Groningen University Medical Center Groningen Department of Genetics Groningen Netherlands Center for Human Technologies Italian Institute of Technology (IIT) Genova Italy Telethon Institute for Genetics and Medicine Pozzuoli (Napoli) 80078 Italy Department of Medical Biotechnologies Med Biotech Hub and Competence Center University of Siena Siena 53100 Italy Institute of Data Science and Digital Technologies Vilnius University Vilnius Lithuania Departament de Genètica Microbiologia i Estadística Facultat de Biologia Universitat de Barcelona (UB) Barcelona Spain Radboud Institute for Molecular Life Sciences Nijmegen Netherlands Department of Internal Medicine and Radboud Center for Infectious Diseases (RCI) Radboud University Medical Center Nijmegen N

We report the results of a comprehensive copy number variant (CNV) reanalysis of 9171 exome sequencing datasets from 5757 families affected by a rare disease (RD). The data reanalysed was extremely heterogeneous, having been generated using 28 different enrichment kits by 42 different research groups across Europe partnering in the Solve-RD project. Each research group had previously undertaken their own analysis of the data but failed to identify disease-causing variants. We applied three CNV calling algorithms to maximise sensitivity, and rare CNVs overlapping genes of interest, provided by four partner European Reference Networks, were taken forward for interpretation by clinical experts. This reanalysis has resulted in a molecular diagnosis being provided to 51 families in this sample, with ClinCNV performing the best of the three algorithms. We also identified partially explanatory pathogenic CNVs in a further 34 individuals. This work illustrates the value of reanalysing ES cold cases for CNVs. © The Author(s) 2024.

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Author Correction: Genomic analysis of a large set of currently-and historically-important human adenovirus pathogens

引用

Emerging microbes & infections 2018年第1期7卷 208页

作者： Ashrafali M Ismail Tiange Cui Kalpana Dommaraju Gurdeep Singh Shoaleh Dehghan Jason Seto Susmita Shrivastava Nadia B Fedorova Neha Gupta Timothy B Stockwell Rebecca Halpin Ramana Madupu Albert Heim Adriana E Kajon Eric G Romanowski Regis P Kowalski Jambulingam Malathi Kuzhanthai L Therese Hajib Narahari Madhavan Qiwei Zhang Leonardo J Ferreyra Morris S Jones Jaya Rajaiya David W Dyer James Chodosh Donald Seto Department of Ophthalmology Howe Laboratory Massachusetts Eye and Ear Infirmary Harvard Medical School Boston MA 02114 USA. Bioinformatics and Computational Biology Program School of Systems Biology George Mason University Manassas VA 20110 USA. Chemistry Department American University Washington DC 20016 USA. J. Craig Venter Institute Rockville MD 20850 USA. Institut für Virologie Medizinische Hochschule Hannover Hannover 30625 Germany. Lovelace Respiratory Research Institute Albuquerque NM 87108 USA. Charles T. Campbell Ophthalmic Microbiology Laboratory Ear and Eye Institute School of Medicine University of Pittsburgh Pittsburgh PA 15213 USA. L & T Microbiology Research Center Kamalnayan Bajaj Research Center Sankara Nethralaya No. 41 College Road Chennai Tamil Nadu 600006 India. Biosafety Level-3 Laboratory School of Public Health Southern Medical University 510515 Guangzhou China. Institute of Virology "J. M. Vanella" Enfermera Gordillo Gómez s/n Agencia 4 Ciudad Universitaria CP 5016 Córdoba Argentina. School of Public Health University of California Berkeley Berkeley CA 94704 USA. Department of Microbiology and Immunology University of Oklahoma Health Sciences Center Oklahoma City OK 73104 USA. Department of Ophthalmology Howe Laboratory Massachusetts Eye and Ear Infirmary Harvard Medical School Boston MA 02114 USA. james_chodosh@meei.harvard.edu. Bioinformatics and Computational Biology Program School of Systems Biology George Mason University Manassas VA 20110 USA. dseto@gmu.edu.

The original publication of this article [1] was missing the below author that made contributions to the research and the published article.

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