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      GA4GH: International policies and standards for data sharing across genomic research and healthcare

      research-article
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      Cell genomics

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          Summary

          The Global Alliance for Genomics and Health (GA4GH) aims to accelerate biomedical advances by enabling the responsible sharing of clinical and genomic data through both harmonized data aggregation and federated approaches. The decreasing cost of genomic sequencing (along with other genome-wide molecular assays) and increasing evidence of its clinical utility will soon drive the generation of sequence data from tens of millions of humans, with increasing levels of diversity. In this perspective, we present the GA4GH strategies for addressing the major challenges of this data revolution. We describe the GA4GH organization, which is fueled by the development efforts of eight Work Streams and informed by the needs of 24 Driver Projects and other key stakeholders. We present the GA4GH suite of secure, interoperable technical standards and policy frameworks and review the current status of standards, their relevance to key domains of research and clinical care, and future plans of GA4GH. Broad international participation in building, adopting, and deploying GA4GH standards and frameworks will catalyze an unprecedented effort in data sharing that will be critical to advancing genomic medicine and ensuring that all populations can access its benefits.

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          Global Cancer Statistics 2018: GLOBOCAN Estimates of Incidence and Mortality Worldwide for 36 Cancers in 185 Countries

          This article provides a status report on the global burden of cancer worldwide using the GLOBOCAN 2018 estimates of cancer incidence and mortality produced by the International Agency for Research on Cancer, with a focus on geographic variability across 20 world regions. There will be an estimated 18.1 million new cancer cases (17.0 million excluding nonmelanoma skin cancer) and 9.6 million cancer deaths (9.5 million excluding nonmelanoma skin cancer) in 2018. In both sexes combined, lung cancer is the most commonly diagnosed cancer (11.6% of the total cases) and the leading cause of cancer death (18.4% of the total cancer deaths), closely followed by female breast cancer (11.6%), prostate cancer (7.1%), and colorectal cancer (6.1%) for incidence and colorectal cancer (9.2%), stomach cancer (8.2%), and liver cancer (8.2%) for mortality. Lung cancer is the most frequent cancer and the leading cause of cancer death among males, followed by prostate and colorectal cancer (for incidence) and liver and stomach cancer (for mortality). Among females, breast cancer is the most commonly diagnosed cancer and the leading cause of cancer death, followed by colorectal and lung cancer (for incidence), and vice versa (for mortality); cervical cancer ranks fourth for both incidence and mortality. The most frequently diagnosed cancer and the leading cause of cancer death, however, substantially vary across countries and within each country depending on the degree of economic development and associated social and life style factors. It is noteworthy that high-quality cancer registry data, the basis for planning and implementing evidence-based cancer control programs, are not available in most low- and middle-income countries. The Global Initiative for Cancer Registry Development is an international partnership that supports better estimation, as well as the collection and use of local data, to prioritize and evaluate national cancer control efforts. CA: A Cancer Journal for Clinicians 2018;0:1-31. © 2018 American Cancer Society.
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            Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: rd@sanger.ac.uk
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              Hallmarks of Cancer: The Next Generation

              The hallmarks of cancer comprise six biological capabilities acquired during the multistep development of human tumors. The hallmarks constitute an organizing principle for rationalizing the complexities of neoplastic disease. They include sustaining proliferative signaling, evading growth suppressors, resisting cell death, enabling replicative immortality, inducing angiogenesis, and activating invasion and metastasis. Underlying these hallmarks are genome instability, which generates the genetic diversity that expedites their acquisition, and inflammation, which fosters multiple hallmark functions. Conceptual progress in the last decade has added two emerging hallmarks of potential generality to this list-reprogramming of energy metabolism and evading immune destruction. In addition to cancer cells, tumors exhibit another dimension of complexity: they contain a repertoire of recruited, ostensibly normal cells that contribute to the acquisition of hallmark traits by creating the "tumor microenvironment." Recognition of the widespread applicability of these concepts will increasingly affect the development of new means to treat human cancer. Copyright © 2011 Elsevier Inc. All rights reserved.
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                Author and article information

                Journal
                9918284260106676
                Cell Genom
                Cell Genom
                Cell genomics
                2666-979X
                19 January 2022
                10 November 2021
                10 November 2021
                25 January 2022
                : 1
                : 2
                : 100029
                Affiliations
                [1 ]Broad Institute of MIT and Harvard, Cambridge, MA, USA
                [2 ]Massachusetts General Hospital, Boston, MA, USA
                [3 ]Global Alliance for Genomics and Health, Toronto, ON, Canada
                [4 ]Ontario Institute for Cancer Research, Toronto, ON, Canada
                [5 ]Brigham and Women’s Hospital, Boston, MA, USA
                [6 ]DNAstack, Toronto, ON, Canada
                [7 ]University of Zurich, Zurich, Switzerland
                [8 ]SIB Swiss Institute of Bioinformatics, Lausanne, Switzerland
                [9 ]McGill University, Montreal, QC, Canada
                [10 ]University of Leicester, Leicester, UK
                [11 ]University of Lausanne, Lausanne, Switzerland
                [12 ]CNAG-CRG, Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain
                [13 ]Universitat Pompeu Fabra (UPF), Barcelona, Spain
                [14 ]Universitat de Barcelona, Barcelona, Spain
                [15 ]Wellcome Sanger Institute, Hinxton, UK
                [16 ]Australian Genomics, Parkville, VIC, Australia
                [17 ]Murdoch Children’s Research Institute, Parkville, VIC, Australia
                [18 ]Canadian Center for Computational Genomics, Montreal, QC, Canada
                [19 ]University of Toronto, Toronto, ON, Canada
                [20 ]University Health Network, Toronto, ON, Canada
                [21 ]Vector Institute, Toronto, ON, Canada
                [22 ]Oregon Health and Science University, Portland, OR, USA
                [23 ]European Molecular Biology Laboratory, European Bioinformatics Institute (EMBL-EBI), Hinxton, UK
                [24 ]PhenoTips, Toronto, ON, Canada
                [25 ]Walter and Eliza Hall Institute of Medical Research, Parkville, VIC, Australia
                [26 ]University of Melbourne, Melbourne, VIC, Australia
                [27 ]Vanderbilt University Medical Center, Nashville, TN, USA
                [28 ]National Cancer Institute, National Institutes of Health, Bethesda, MD, USA
                [29 ]Memorial Sloan Kettering Cancer Center, New York, NY, USA
                [30 ]Nationwide Children’s Hospital, Columbus, OH, USA
                [31 ]The Ohio State University, Columbus, OH, USA
                [32 ]National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA
                [33 ]Stanford University, Stanford, CA, USA
                [34 ]UC Santa Cruz Genomics Institute, Santa Cruz, CA, USA
                [35 ]Arizona State University, Washington, DC, USA
                [36 ]Sage Bionetworks, Seattle, WA, USA
                [37 ]University of Edinburgh, Edinburgh, UK
                [38 ]Canadian Distributed Infrastructure for Genomics (CanDIG), Toronto, ON, Canada
                [39 ]University of Utah, Salt Lake City, UT, USA
                [40 ]Sidra Medicine, Doha, Qatar
                [41 ]Weill Cornell Medicine - Qatar, Doha, Qatar
                [42 ]Addenbrooke’s Hospital, Cambridge, UK
                [43 ]University of Chicago, Chicago, IL, USA
                [44 ]Mayo Clinic, Rochester, MN, USA
                [45 ]National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
                [46 ]Verily Life Sciences, South San Francisco, CA, USA
                [47 ]Harvard Medical School, Boston, MA, USA
                [48 ]Washington University School of Medicine in St. Louis, St. Louis, MO, USA
                [49 ]Pryzm Health, Sydney, QLD, Australia
                [50 ]Centre for Genomic Regulation (CRG), The Barcelona Institute of Science and Technology, Barcelona, Spain
                [51 ]University of Colorado Anschutz Medical Campus, Aurora, CO, USA
                [52 ]Johns Hopkins University, Baltimore, MD, USA
                [53 ]Autism Speaks, Princeton, NJ, USA
                [54 ]Duke-Margolis Center for Health Policy, Washington, DC, USA
                [55 ]The University of Hong Kong, Hong Kong, Hong Kong
                [56 ]BBMRI-ERIC, Graz, Austria
                [57 ]Masaryk University, Brno, Czech Republic
                [58 ]National Taiwan University, Taipei City, Taiwan
                [59 ]École polytechnique fédérale de Lausanne (EPFL), Lausanne, Switzerland
                [60 ]Cincinnati Children’s Hospital Medical Center, Cincinnati, OH, USA
                [61 ]Queen Mary University of London, London, UK
                [62 ]SingHealth Duke-NUS Genomic Medicine Centre, Singapore, Republic of Singapore
                [63 ]SingHealth Duke-NUS Institute of Precision Medicine, Singapore, Republic of Singapore
                [64 ]University of Waterloo, Waterloo, ON, Canada
                [65 ]Garvan Institute of Medical Research, Darlinghurst, NSW, Australia
                [66 ]University of Glasgow, Glasgow, UK
                [67 ]Canada’s Michael Smith Genome Sciences Centre, BC Cancer, Vancouver, BC, Canada
                [68 ]University of Basel, Basel, Switzerland
                [69 ]Osaka University, Suita, Japan
                [70 ]University of Nottingham, Nottingham, UK
                [71 ]University of Oxford, Oxford, UK
                [72 ]National Center for Global Health and Medicine Hospital, Tokyo, Japan
                [73 ]University of Tokyo, Tokyo, Japan
                [74 ]ELIXIR Hub, Hinxton, UK
                [75 ]Keio University School of Medicine, Tokyo, Japan
                [76 ]mlin.net LLC, San Jose, CA, USA
                [77 ]CSC–IT Center for Science, Espoo, Finland
                [78 ]ELIXIR Finland, Espoo, Finland
                [79 ]Faculty of Medicine, University Southampton, Southampton, UK
                [80 ]Seven Bridges, Boston, MA, USA
                [81 ]The Australian e-Health Research Centre, CSIRO, Herston, QLD, Australia
                [82 ]Wellcome Connecting Science, Hinxton, UK
                [83 ]University of Cambridge, Cambridge, UK
                [84 ]Heidelberg Academy of Sciences and Humanities, Heidelberg, Germany
                [85 ]H3ABioNet, Computational Biology Division, IDM, Faculty of Health Sciences, Cape Town, South Africa
                [86 ]Japan Agency for Medical Research & Development (AMED), Tokyo, Japan
                [87 ]RIKEN Center for Integrative Medical Sciences, Yokohama, Japan
                [88 ]University of Northampton, Northampton, UK
                [89 ]Institute of Evolutionary Biology (UPF-CSIC), Universitat Pompeu Fabra (UPF), Barcelona, Spain
                [90 ]Institucio Catalana de Recerca i Estudis Avançats, Barcelona, Spain
                [91 ]Barcelonabeta Brain Research Center (BBRC), Pasqual Maragall Foundation, Barcelona, Spain
                [92 ]Genomic Medicine Institute, Geisinger, Danville, PA, USA
                [93 ]Human Genetics Society of Australasia Education, Ethics & Social Issues Committee, Alexandria, NSW, Australia
                [94 ]Tohoku University, Sendai, Japan
                [95 ]Spherical Cow Group, New York, NY, USA
                [96 ]Laura Paglione LLC, New York, NY, USA
                [97 ]Amazon Web Services, Inc., Seattle, WA, USA
                [98 ]Invitae, San Francisco, CA, USA
                [99 ]Genomics England, London, UK
                [100 ]The Jackson Laboratory, Farmington, CT, USA
                [101 ]University of Connecticut, Farmington, CT, USA
                [102 ]National Center for Biotechnology Information, National Library of Medicine, National Institutes of Health, Bethesda, MD, USA
                [103 ]Patient-Centered Outcomes Research Institute (PCORI), Washington, DC, USA
                [104 ]Bicgen Foundation Inc, Arlington Heights, IL, USA
                [105 ]Congenica Ltd., Cambridge, UK
                [106 ]University of Virginia, Charlottesville, VA, USA
                [107 ]University of Michigan, Ann Arbor, MI, USA
                [108 ]QIMR Berghofer Medical Research Institute, Herston, QLD, Australia
                [109 ]Precision Health Research Singapore, Singapore, Republic of Singapore
                [110 ]Genome Institute of Singapore, Singapore, Republic of Singapore
                [111 ]University of Luxembourg, Esch-sur-Alzette, Luxembourg
                [112 ]National Center for Global Health and Medicine, Tokyo, Japan
                [113 ]California Institute of Technology, Pasadena, CA, USA
                [114 ]Barcelona Supercomputing Center, Barcelona, Spain
                [115 ]Health Data Research UK, London, UK
                [116 ]Melbourne Law School, University of Melbourne, Parkville, VIC, Australia
                [117 ]Google LLC, Kitchener, ON, Canada
                [118 ]Section of Translational Medical Ethics, University Hospital Heidelberg, Heidelberg, Germany
                [119 ]Indoc Research, Toronto, ON, Canada
                [120 ]Canadian Centre for Computational Genomics, Montreal, QC, Canada
                [121 ]European Molecular Biology Laboratory, Heidelberg, Germany
                [122 ]MyOme, Inc, San Bruno, CA, USA
                [123 ]Kelly Government Solutions, Rockville, MD, USA
                [124 ]Datadex Inc., Toronto, ON, Canada
                [125 ]Howard Hughes Medical Institute, University of California, Santa Cruz, CA, USA
                [126 ]Salt Lake City, UT, USA
                Author notes
                [* ]Correspondence: angela.page@ 123456ga4gh.org
                Article
                EMS140859
                10.1016/j.xgen.2021.100029
                8774288
                35072136
                0636d131-4440-41d6-903f-30e7c8af6602

                This work is licensed under a CC BY 4.0 International license.

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