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  • WG06: Disease & Phenotype Descriptions in Gene/Disease Specific Databases - Human Variome Project
    WG06 Disease Phenotype Descriptions in Gene Disease Specific Databases WG06 Disease Phenotype Descriptions in Gene Disease Specific Databases Standardization of disease and phenotype descriptions in gene variant databases is highly desired to improve database interoperability and database quality To indicate their quality curators of gene variant databases would like to state that they follow the HVP recommendations regarding content and display of disease and phenotype descriptions However such recommendations do not yet exist Existing recommendations would also help gene variant database software developers ensuring that their design includes all minimal requirements for adequate storage and display of disease and phenotype details Key Documents Standards for disease and phenotype descriptions in gene variant databases AP07 2013 AP07 Standards for disease and phenotype descriptions in gene variant databases LSDBs ICO Comments PP ICO 11 2013 WG06 Disease Phenotype Descriptions in Gene Disease Specific Databases Charter GDSDBAC17 2014 Working Group Members Peter Robinson Institut für Medizinische Genetik und Humangenetik Charité Universitätsmedizin Berlin Other TBA Stage History Date Stage Code 2013 09 03 0010 2013 09 24 0020 2013 09 26 0050 2013 09 26 0080 2013 09 26 0099 2013 11 12 1010 2013 11 12 1020 2013 11 20 1050 2013 11

    Original URL path: http://www.humanvariomeproject.org/sdp/wg06-disease-phenotype-descriptions-in-gene/disease-specific-databases.html (2016-02-10)
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  • WG07: Minimum Content of a Country Specific Database - Human Variome Project
    Specific Database Curators and Submitters Recommended Systems Home Solutions Standards and Guidelines under Development WG07 Minimum Content of a Country Specific Database WG07 Minimum Content of a Country Specific Database A country specific database is meant to be the base for data which are later introduced to international databases Hence national databases should contain a minimum level of information that makes it possible for nternational databases to characterize define variants regarding their pathogenicity At the moment there is no recommendation regarding minimal content of a country regional specific database Key Documents Minimum content of a country specific variant database AP08 2014 AP08 2014 Minimum Content of a Country Specific Variant Database ICO Comments PP ICO 13 2014 WG07 Minimum Content of a Country Specific Database Charter ICCAC21 2014 Working Group Members Martina Witsch Baumgartner Medizinische Universität Innsbruck Austria Peter Taschner Leiden University Medical Center The Netherlands Other TBA Stage History Date Stage Code 2014 02 25 0010 2014 02 27 0020 2014 05 22 0050 2014 05 22 0080 2014 05 22 0099 2014 05 23 1010 2014 05 23 1020 2014 05 23 1050 2014 05 23 1080 2014 05 23 1099 Navigate Home About Activities Solutions Resources Meetings

    Original URL path: http://www.humanvariomeproject.org/sdp/wg07-minimum-content-of-a-country-specific-database.html (2016-02-10)
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  • WG08: Ethics Checklist for Gene/Disease Specific Database Curators and Submitters - Human Variome Project
    and the 12 points in Table 1 of the same paper were developed to help address ethical issues in database curation and LSDB curators are encourage to implement these reccommendations However it appears that most LSDB curators find these 12 points difficult to fulfil The Human Variome Project Gene Disease Specific Database Advisory Council feel that a more practical checklist should be developed so LSDB curators can ensure compliance with

    Original URL path: http://www.humanvariomeproject.org/sdp/wg08-ethics-checklist-for-gene/disease-specific-database-curators-and-submitters.html (2016-02-10)
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  • BRCA Challenge | Project-wide Initiatives | HVP Meetings & Events | brca-challenge - Human Variome Project
    Project wide Initiatives BRCA Challenge Global Globin 2020 Challenge Home Meetings Project wide Initiatives BRCA Challenge BRCA Challenge 12 Jun 2015 BRCA Challenge Meeting Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project International Ltd Level 1 200 Berkeley Street University of Melbourne Victoria Australia P 61 3 9035 9519 E info

    Original URL path: http://www.humanvariomeproject.org/past-meetings/brca-challenge.html (2016-02-10)
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  • Global Globin 2020 Challenge | Project-wide Initiatives | HVP Meetings & Events | global-globin-2020-challenge - Human Variome Project
    Globin 2020 Challenge 17 Mar 2015 Using Haemoglobinopathies to Advance Genomic Medicine the Human Variome Project s Global Globin Initiative 17 Sep 2015 GG2020 Symposium at APCHG2015 4 Nov 2015 Applying new human genomics techniques and middle income countries Global Globin 2020 Challenge Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact the International Coordinating Office Human Variome Project

    Original URL path: http://www.humanvariomeproject.org/past-meetings/gg2020.html (2016-02-10)
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  • Blog - Human Variome Project
    China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome Project International Limited Response to the Global Alliance for Genomics and Health Draft Constitution African genomics projects highlighted at major international scientific meeting A Global Alliance to Enable Responsible Sharing of Genomic and Clinical

    Original URL path: http://www.humanvariomeproject.org/blog/categories.html (2016-02-10)
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  • The Human Variome Project: Global Coordination in Data Sharing - Blog - Human Variome Project
    and their use the HVP works with stakeholders within individual countries including national health systems ministries of health and national societies of human genetics to establish what it calls HVP Country Nodes An HVP Country Node acts as a national focal point for genomic data sharing activities and has a specific role in connecting all the laboratories in a country that provide genetic testing services Each node is managed and financed locally by a committee or organization that represents a sufficient number of national stakeholder groups and the node enjoys the backing or support of the country s human genetics society or similar professional body So far nodes have been established in twenty countries Australia Austria Belgium China Cyprus the Czech Republic Egypt Italy Kuwait Malaysia Mexico Nepal the Netherlands Nigeria the Republic of Korea Spain the United Kingdom the United States Venezuela and Vietnam The HVP Country Nodes do not operate in isolation As part of an international consortium they are active in HVP activities participating in the development of HVP Standards and Guidelines and sharing their knowledge and experience with other HVP Country Nodes Continuing membership of the HVP Consortium and recognition as an HVP Country Node is at all times subject to the HVP Code of Conduct An HVP Country Node consists of three components One is a repository or linked network of databases where information on a genetic variation within a country is collected and stored This repository enables the sharing of the information both nationally and internationally The second is a governance structure that ensures that the work of the node is both sustainable in the long term and consistent with all relevant national and international ethical legal and social requirements and considerations The third is a set of policies and procedures that ensures that the repository is operated and maintained in a responsible and accountable manner that is consistent with both national standards and the HVP s Standards and Guidelines Action in the third component is driven within the consortium by interest groups that are formed around broad topical areas such as ethics phenotype and pathogenicity Consortium members are divided into working groups around very narrow topics to produce standards and specify the systems and infrastructure required to address particular issues This process is overseen by the HVP s International Scientific Advisory Committee which leads the HVP in matters of strategic scientific direction for current and future activities The committee is also responsible for managing the development and publication of all HVP Standards and Guidelines as well as the arbitration of the dispute resolution process Voting members of the committee are elected by the two advisory councils one is the representative body for gene and disease specific databases and the other for HVP Country Nodes Nodes in certain regions can assume a supporting coordinating and developing role for neighboring countries to become Regional Nodes The overall activities and the international management of the HVP are facilitated by the small staff of the International Coordinating Office It is organized in a manner that ensures that the core scientific focus of the project is maintained while retaining the necessary commercial and organizational skills to manage the project New Partners New Frontiers UNESCO is the only agency within the UN system that deals with fundamental science Its unique combination of cultural and scientific interests makes it an ideal forum for interdisciplinary discussion and the promotion of understanding By acting as a bridge among governments governmental organizations and nongovernmental agencies such as the HVP UNESCO is able to facilitate effective international cooperation Through UNESCO nations not currently involved in the HVP may gain access to it and ultimately make some contribution of their own In its dealings with the HVP specifically UNESCO provides a focal point for the exchange of data technology and samples relevant to genomic research and also for debate among scientists from different disciplines or from widely separated countries UNESCO s creation of the International Bioethics Committee a body committed to ensuring respect for human dignity and freedom in the field of life sciences and its applications with special attention to patient confidentiality confers to the organization the legitimacy to work in such a sensitive field as the collection of genetic data In working under UNESCO s umbrella the HVP consequently is in compliance with the Universal Declaration on the Human Genome and Human Rights8 the International Declaration on Human Genetic Data 9 and the Universal Declaration on Bioethics and Human Rights 10 A tremendous step forward for the project took place in 2013 with the establishment of the HVP South East Asian Node It represented significant recognition by Malaysian authorities that genetic and genomic healthcare is an important part of a well developed health system and it flagged their serious engagement with initiatives to provide these services to their citizens as well as working closely within the region to address common challenges The launch of the HVP South East Asian Node was officiated by Tan Sri Muhyiddin Bin Yassin Malaysia s deputy prime minister and minister for education and Omar Osman vice chancellor of Universiti Sains Malaysia The node will assist Brunei Malaysia Singapore Thailand and Vietnam in their national efforts to share information on genetic variations in Southeast Asian populations among associated states and the rest of the world Nodes also are being developed in Portugal by the Pediatric Hospital of Coimbra and Brazil by the University of São Paulo UNESCO is working with both institutions to develop the HVP through the Community of Portuguese Language Countries formed by Angola Brazil Cape Verde East Timor Equatorial Guinea Guinea Bissau Mozambique Portugal and São Tomé and Príncipe known by its Portuguese acronym CPLP for Comunidade dos Países de Língua Portuguesa The basic idea is to use the soft power of a common language as a diplomatic instrument to exchange science and technology across continents fostering North South and South South cooperation Recently the Eduardo Mondlane University in Maputo Mozambique started discussions with UNESCO and

    Original URL path: http://www.humanvariomeproject.org/blog/the-human-variome-project-global-coordination-in-data-sharing.html (2016-02-10)
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  • 欢迎你,中国! - Blog - Human Variome Project
    experts and professionals in the areas of genetics and genomics in China Dr Casimiro Vizzini from the International Basic Science Program of the United Nations Scientific Educational and Cultural Organisation UNESCO and Mr Chris Arnold Chairman of the Human Variome Project International Limited Board addressed the delegates The Human Variome Project were further represented by Professor Garry Cutting HVPI Board member and Co Chair of the International Scientific Advisory Committee and Professor Peter Taschner member of the International Scientific Advisory Committee and Chair of the Gene Disease Specific Database Advisory Council Representatives from the UNESCO Beijing Office also attended the event Mr Zhonghua Gao from the Beijing China Health Huayang Institute of Gene Technology was appointed as the Director of the HVP China Node Working Committee The HVP China Node Working Committee had held a meeting on the day preceding the launch Professor Runlin Ma from the Institute of Genetics and Developmental Biology Chinese Academy of Sciences was elected as Chair of the Expert Committee of HVP China Node Working committee 加油 中国 Tagged in HVP Country Node Vale Richard Cotton New Board Appointments Comments No comments made yet Be the first to submit a comment Leave your comment Don t forget to log in If you re a member of the Human Variome Project Consortium you might want to log in before posting a comment Not a member Why not sign up Guest Wednesday 10 February 2016 Captcha Image I have read and agree to the Terms Conditions Categories News Press Releases Statements Speeches Capacity Building Collaborating Projects HVP Country Nodes China Czech Republic Republic of Korea South East Asia Regional USA United Kingdom Venezuela Ethical Legal Social Issues Microattribution Subscribe by Email Get fresh blog posts delivered straight to your inbox Subscribe Popular Posts Human Variome Project International

    Original URL path: http://www.humanvariomeproject.org/blog/welcome-china.html (2016-02-10)
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