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      Towards a European health research and innovation cloud (HRIC)

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      1 , 2 , 3 , 4 , 5 , , 6 , 7 , 8 , , 9 , 10 , 11 , 12 , , 13 , 14 , 15 , 16 , 4 , 17 , 18 , 19 , 20 , 21 , 22 , 23 , 24 , 25 , 26 , 27 , 28 , 29 , 30 , , 31 , 32 , 33 , 34 , 35 , 36 , 37 , 38 , 39 , 40 , 41 , 42 , 43 , 44 , 45 , 24 , 46 , 47 , 2 , 3 , 48 , 49 , 49 , 14 , 50
      Genome Medicine
      BioMed Central

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          Abstract

          The European Union (EU) initiative on the Digital Transformation of Health and Care (Digicare) aims to provide the conditions necessary for building a secure, flexible, and decentralized digital health infrastructure. Creating a European Health Research and Innovation Cloud (HRIC) within this environment should enable data sharing and analysis for health research across the EU, in compliance with data protection legislation while preserving the full trust of the participants. Such a HRIC should learn from and build on existing data infrastructures, integrate best practices, and focus on the concrete needs of the community in terms of technologies, governance, management, regulation, and ethics requirements. Here, we describe the vision and expected benefits of digital data sharing in health research activities and present a roadmap that fosters the opportunities while answering the challenges of implementing a HRIC. For this, we put forward five specific recommendations and action points to ensure that a European HRIC: i) is built on established standards and guidelines, providing cloud technologies through an open and decentralized infrastructure; ii) is developed and certified to the highest standards of interoperability and data security that can be trusted by all stakeholders; iii) is supported by a robust ethical and legal framework that is compliant with the EU General Data Protection Regulation (GDPR); iv) establishes a proper environment for the training of new generations of data and medical scientists; and v) stimulates research and innovation in transnational collaborations through public and private initiatives and partnerships funded by the EU through Horizon 2020 and Horizon Europe.

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          Most cited references37

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          The FAIR Guiding Principles for scientific data management and stewardship

          There is an urgent need to improve the infrastructure supporting the reuse of scholarly data. A diverse set of stakeholders—representing academia, industry, funding agencies, and scholarly publishers—have come together to design and jointly endorse a concise and measureable set of principles that we refer to as the FAIR Data Principles. The intent is that these may act as a guideline for those wishing to enhance the reusability of their data holdings. Distinct from peer initiatives that focus on the human scholar, the FAIR Principles put specific emphasis on enhancing the ability of machines to automatically find and use the data, in addition to supporting its reuse by individuals. This Comment is the first formal publication of the FAIR Principles, and includes the rationale behind them, and some exemplar implementations in the community.
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            Pan-cancer analysis of whole genomes

            Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale 1–3 . Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4–5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter 4 ; identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation 5,6 ; analyses timings and patterns of tumour evolution 7 ; describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity 8,9 ; and evaluates a range of more-specialized features of cancer genomes 8,10–18 .
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              Blockchain: A Panacea for Healthcare Cloud-Based Data Security and Privacy?

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                Author and article information

                Contributors
                fmaa@food.dtu.dk
                abdullah@medicalchain.com
                W.J.Armitage@bristol.ac.uk
                cauffray@eisbm.org
                luca.augello@ariaspa.it
                rudi.balling@uni.lu
                nora.benhabiles@cea.fr , nora.benhabiles@wanadoo.fr
                guido.bertolini@marionegri.it
                j.g.bjaalie@medisin.uio.no
                mm.black@ulster.ac.uk
                niklas.blomberg@elixir-europe.org
                Petronille.bogaert@sciensano.be
                bubak@agh.edu.pl
                brecht.claerhout@trinetx.com
                laura@ebi.ac.uk
                bdemeulder@eisbm.org
                g.derrico@toscanalifesciences.org
                alberto.di.meglio@cern.ch
                nikolaus.forgo@univie.ac.at
                cganscombe@inseec.com
                Alexander.Edward.Gray2@ehelse.no
                Ivo.gut@cnag.crg.eu
                Alexandra.Gyllenberg@ki.se
                g.hemmrich-stanisak@ikmb.uni-kiel.de
                Lars.Hjorth@skane.se
                yannis@di.uoa.gr
                sonata.jarmalaite@nvi.lt
                alexander.kel@genexplain.com
                Ferath.Kherif@chuv.ch
                korbel@embl.de
                Catherine.Larue@lih.lu
                email@mitzilaszlo.org
                Andrew.Maas@uza.be
                luis.magalhaes@clinerion.com
                isabelle.manneh-vgb@ecpc.org
                emf@lynkeus.com
                christian.ohmann@med.uni-duesseldorf.de
                per.oksvold@scilifelab.se
                n.oxtoby@ucl.ac.uk
                isabelle.perseil@inserm.fr
                bpezoulas@gmail.com
                Olaf.Riess@med.uni-tuebingen.de
                h.riper@vu.nl
                JROCA@clinic.cat
                p.rosenstiel@mucosa.de
                Philippe.Sabatier@imag.fr
                ferran.sanz@upf.edu
                Mo@medicalchain.com
                gardot@usit.uio.no
                Johan.VanBussel@wiv-isp.be
                marc.VanDenBulcke@wiv-isp.be
                Herman.VanOyen@sciensano.be
                Journal
                Genome Med
                Genome Med
                Genome Medicine
                BioMed Central (London )
                1756-994X
                19 February 2020
                19 February 2020
                2020
                : 12
                : 18
                Affiliations
                [1 ]GRID grid.5170.3, ISNI 0000 0001 2181 8870, Technical University of Denmark, ; Kongens Lyngby, Denmark
                [2 ]Medicalchain, York Road, London, SQ1 7NQ UK
                [3 ]GRID grid.451052.7, ISNI 0000 0004 0581 2008, National Health Service, ; London, UK
                [4 ]Translation Health Sciences, Bristol Medical School, Bristol, BS81UD UK
                [5 ]European Institute for Systems Biology and Medicine (EISBM), Vourles, France
                [6 ]Regional Agency for Innovation & Procurement (ARIA), Welfare Services Division, Lombardy, Milan, Italy
                [7 ]GRID grid.16008.3f, ISNI 0000 0001 2295 9843, Luxembourg Centre for Systems Biomedicine, Campus Belval, , University of Luxembourg, ; Luxembourg City, Luxembourg
                [8 ]GRID grid.457334.2, CEA, French Atomic Energy and Alternative Energy Commission, Direction de la Recherche Fondamentale, Université Paris-Saclay, ; F-91191 Gif-sur-Yvette, France
                [9 ]GRID grid.4527.4, ISNI 0000000106678902, Istituto di Ricerche Farmacologiche Mario Negri IRCCS, ; Bergamo, Italy
                [10 ]GRID grid.5510.1, ISNI 0000 0004 1936 8921, Institute of Basic Medical Sciences, University of Oslo, ; Oslo, Norway
                [11 ]GRID grid.12641.30, ISNI 0000000105519715, Ulster University, ; Belfast, BT15 1ED UK
                [12 ]ELIXIR, Welcome Genome Campus, Hinxton, Cambridge, CB10 1SD UK
                [13 ]GRID grid.12295.3d, ISNI 0000 0001 0943 3265, Sciensano, Brussels, Belgium and Tilburg University, ; Tilburg, The Netherlands
                [14 ]GRID grid.9922.0, ISNI 0000 0000 9174 1488, Department of Computer Science and Academic Computing Center Cyfronet, , Akademia Gornizco Hutnizca University of Science and Technology, ; Krakow, Poland
                [15 ]GRID grid.5342.0, ISNI 0000 0001 2069 7798, Ghent University, ; Ghent, Belgium
                [16 ]GRID grid.225360.0, ISNI 0000 0000 9709 7726, European Molecular Biology Laboratory, European Bioinformatics Institute, Wellcome Genome Campus, ; Hinxton, Cambridge, CB10 1SD UK
                [17 ]Fondazione Toscana Life Sciences, 53100 Siena, Italy
                [18 ]GRID grid.9132.9, ISNI 0000 0001 2156 142X, CERN, European Organization for Nuclear Research, ; Meyrin, Switzerland
                [19 ]GRID grid.10420.37, ISNI 0000 0001 2286 1424, University of Vienna, ; Vienna, Austria
                [20 ]INSEEC School of Business & Economics, Paris, France
                [21 ]GRID grid.458786.0, PwC, Dronning Eufemiasgate, ; N-0191 Oslo, Norway
                [22 ]Center for Genomic Regulations, Barcelona, Spain
                [23 ]GRID grid.4714.6, ISNI 0000 0004 1937 0626, Neuroimmunology Unit, The Karolinska Neuroimmunology & Multiple Sclerosis Centre, Department of Clinical Neuroscience, , Karolinska Institute, ; Stockholm, Sweden
                [24 ]GRID grid.412468.d, ISNI 0000 0004 0646 2097, Institute of Clinical Molecular Biology, Kiel University and University Hospital Schleswig-Holstein, ; Campus Kiel, Kiel, Germany
                [25 ]Department of Clinical Sciences, Pediatrics, Lund University, Skåne University Hospital, Lund, Sweden
                [26 ]GRID grid.5216.0, ISNI 0000 0001 2155 0800, Athena Research & Innovation Center and University of Athens, ; Athens, Greece
                [27 ]GRID grid.459837.4, National Cancer Institute, ; Vilnius, Lithuania
                [28 ]GRID grid.434682.f, geneXplain GmbH, ; Wolfenbüttel, Germany
                [29 ]GRID grid.8515.9, ISNI 0000 0001 0423 4662, Centre Hospitalier Universitaire Vaudois, ; Lausanne, Switzerland
                [30 ]GRID grid.4709.a, ISNI 0000 0004 0495 846X, European Molecular Biology Laboratory, Genome Biology Unit, ; Heidelberg, Germany
                [31 ]Integrated Biobank of Luxembourg, Rue Louis Rech, L-3555 Dudelange, Luxembourg
                [32 ] https://www.mitzilaszlo.org
                [33 ]Antwerp University Hospital and University of Antwerp, Edegem, Belgium
                [34 ]Clinerion Ltd, Elisabethenanlage, 4051 Basel, Switzerland
                [35 ]European Cancer Patient Coalition, Rue de Montoyer/Montoyerstraat, B-1000 Brussels, Belgium
                [36 ]GRID grid.436036.4, Lynkeus, ; Via Livenza, 00198 Rome, Italy
                [37 ]Public Policy Consultant, Rome, Italy
                [38 ]GRID grid.411327.2, ISNI 0000 0001 2176 9917, European Clinical Research Infrastructure Network, Heinrich-Heine-Universität, ; Düsseldorf, Germany
                [39 ]GRID grid.5037.1, ISNI 0000000121581746, Science for Life Laboratory, KTH Royal Institute of Technology, ; Stockholm, Sweden
                [40 ]GRID grid.83440.3b, ISNI 0000000121901201, Centre for Medical Image Computing, Department of Computer Science, , University College London, ; London, UK
                [41 ]GRID grid.7429.8, ISNI 0000000121866389, Information Technology Department, Institut National de la Santé et de la Recherche Médicale, ; Paris, France
                [42 ]GRID grid.9594.1, ISNI 0000 0001 2108 7481, Unit of Medical Technology and Intelligent Information Systems, Department of Materials Science and Engineering, , University of Ioannina, ; Ioannina, Greece
                [43 ]Institute of Medical Genetics and Applied Genomics, Rare Disease Center, Tübingen, Germany
                [44 ]GRID grid.12380.38, ISNI 0000 0004 1754 9227, Section Clinical, Neuro and Developmental Psychology, Department of Behavioural and Movement Sciences, Vrije Universiteit, ; Amsterdam, The Netherlands
                [45 ]Hospital Clínic de Barcelona, IDIBAPS, University of Barcelona, Barcelona, Spain
                [46 ]GRID grid.4444.0, ISNI 0000 0001 2112 9282, French National Centre for Scientific Research, ; Grenoble, France
                [47 ]GRID grid.5612.0, ISNI 0000 0001 2172 2676, Hospital del Mar Medical Research Institute (IMIM), Universitat Pompeu Fabra, ; Barcelona, Spain
                [48 ]GRID grid.5510.1, ISNI 0000 0004 1936 8921, University of Oslo, ; Oslo, Norway
                [49 ]GRID grid.418170.b, ISNI 0000 0004 0635 3376, Scientific Institute of Public Health, ; Brussels, Belgium
                [50 ]Sciensano, Juliette Wystmanstraat, 1050 Brussels, Belgium
                Author information
                http://orcid.org/0000-0003-2226-7411
                Article
                713
                10.1186/s13073-020-0713-z
                7029532
                32075696
                5eaf95af-1c34-42ae-a2de-ffd6547f3e58
                © The Author(s). 2020

                Open AccessThis article is distributed under the terms of the Creative Commons Attribution 4.0 International License ( http://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The Creative Commons Public Domain Dedication waiver ( http://creativecommons.org/publicdomain/zero/1.0/) applies to the data made available in this article, unless otherwise stated.

                History
                : 6 February 2019
                : 29 January 2020
                Funding
                Funded by: European Commission
                Award ID: Travel grant to attend the workshop
                Categories
                Opinion
                Custom metadata
                © The Author(s) 2020

                Molecular medicine
                Molecular medicine

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