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  • Policy Documents - Policy Documents - Human Variome Project
    Home Activities Work Products Policy Documents Policy Documents Policy Documents Document Document Title Version License Document Status Release Date PD09 2016 Volunteer Policy and Procedures Version 1 0 CC BY SA 4 0 Published 2016 02 09 PD06 1 2011 Standards Development Process Policy Version 2 0 CC BY SA 4 0 Published 2014 08 13 PD08 1 2013 Recommended System Status Version 2 0 CC BY SA 4 0 Published 2013 03 28 PD02 1 2013 Affiliated Initiative Policy Version 2 0 CC BY SA 4 0 Published 2013 02 12 PD07 2012 Project Roadmap 2012 2016 Version 1 0 CC BY SA 4 0 Published 2012 05 25 PD05 2011 HVP Logo Style Guide Version 1 0 CC BY SA 4 0 Published 2011 07 11 PD04 1 2010 Partner Gene Disease Specific Database Policy Version 2 0 CC BY SA 4 0 Withdrawn 2010 10 08 PD03 2010 Partner Country Node Policy Version 1 0 CC BY SA 4 0 Withdrawn 2010 10 08 PD01 2010 Project Roadmap 2010 2012 Version 1 0 CC BY SA 4 0 Published 2010 06 24 Powered by nbsp jDownloads Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/policy-documents.html (2016-02-10)
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  • ISAC Documents - ISAC - Human Variome Project
    1 0 CC BY SA 4 0 Published 2015 12 17 ISAC83 2015 Agenda 17 December 2015 Version 1 0 CC BY SA 4 0 Published 2015 12 11 ISAC82 2015 Minutes 19 November 2015 Version 1 0 CC BY SA 4 0 Published 2015 11 19 ISAC81 2015 Agenda 19 November 2015 Version 1 0 CC BY SA 4 0 Published 2015 11 12 ISAC80 2015 Minutes 8 October 2015 Version 1 0 CC BY SA 4 0 Published 2015 10 08 ISAC79 2015 Agenda 8 October 2015 Version 1 0 CC BY SA 4 0 Published 2015 10 01 ISAC78 2015 Minutes 17 September 2015 Version 1 0 CC BY SA 4 0 Published 2015 09 17 ISAC77 2015 Agenda 17 September 2015 Version 1 0 CC BY SA 4 0 Published 2015 09 10 ISAC76 2015 Minutes 27 August 2015 Version 1 0 CC BY SA 4 0 Published 2015 08 27 ISAC75 2015 Agenda 27 August 2015 Version 1 0 CC BY SA 4 0 Published 2015 08 27 ISAC74 2015 Minutes 30 July 2015 Version 1 0 CC BY SA 4 0 Published 2015 08 24 ISAC73 2015 Agenda 30 July 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 24 ISAC72 2015 Minutes 25 June 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 22 ISAC71 2015 Agenda 25 June 2015 Version 1 0 CC BY SA 4 0 Published 2015 06 18 ISAC70 2015 Minutes 28 May 2015 Version 1 0 CC BY SA 4 0 Published 2015 05 28 ISAC69 2015 Agenda 28 May 2015 Version 1 0 CC BY SA 4 0 Published 2015 05 21 ISAC68 2015 Minutes 30 April 2015 Version 1 0 CC BY SA 4 0 Draft 2015 05 02 ISAC67

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/isac-documents.html (2016-02-10)
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  • ICCAC Documents - ICCAC - Human Variome Project
    0 CC BY SA 4 0 Published 2015 09 29 ICCAC36 2015 Agenda 29 September 2015 Version 1 0 CC BY SA 4 0 Published 2015 09 22 ICCAC35 2015 Minutes 4 August 2015 Version 1 0 CC BY SA 4 0 Published 2015 08 04 ICCAC34 2015 Agenda 4 August 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 30 ICCAC33 2015 Minutes 2 June 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 28 ICCAC32 2015 Agenda 2 June 2015 Version 1 0 CC BY SA 4 0 Published 2015 05 27 ICCAC31 2015 Minutes 7 April 2015 Version 1 0 CC BY SA 4 0 Draft 2015 05 27 ICCAC30 2015 Agenda 7 April 2015 Version 1 0 CC BY SA 4 0 Published 2015 03 31 ICCAC29 2015 Minutes 3 February 2015 Version 1 0 CC BY SA 4 0 Published 2015 03 25 ICCAC28 2015 Agenda 3 February 2015 Version 1 0 CC BY SA 4 0 Published 2015 01 28 ICCAC27 2014 Minutes 2 December 2014 Version 1 0 CC BY SA 4 0 Published 2014 12 08 ICCAC14 1 2014 HVP Country Nodes Version 1 1 CC BY SA 4 0 Published 2014 11 26 ICCAC26 2014 Agenda 2 December 2014 Version 1 0 CC BY SA 4 0 Published 2014 11 24 ICCAC25 2014 Minutes 23 September 2014 Version 1 0 CC BY SA 4 0 Published 2014 09 23 ICCAC24 2014 Agenda 23 September 2014 Version 1 0 CC BY SA 4 0 Published 2014 09 10 ICCAC23 2014 Minutes 5 August 2014 Version 1 0 CC BY SA 4 0 Published 2014 08 05 ICCAC22 2014 Agenda 5 August 2014 Version 1 0 CC BY SA 4 0 Published 2014 08 01 ICCAC21 2014

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/iccac-documents.html (2016-02-10)
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  • G/DSDBAC Documents - G/DSDBAC - Human Variome Project
    BY SA 4 0 Published 2015 11 10 GDSDBAC39 2015 Agenda 10 November 2015 Version 1 0 CC BY SA 4 0 Published 2015 11 03 GDSDBAC38 2015 Minutes 8 September 2015 Version 1 0 CC BY SA 4 0 Published 2015 09 08 GDSDBAC37 2015 Agenda 8 September 2015 Version 1 0 CC BY SA 4 0 Published 2015 09 01 GDSDBAC36 2015 Minutes 7 July 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 07 GDSDBAC35 2015 Agenda 7 July 2015 Version 1 0 CC BY SA 4 0 Published 2015 07 03 GDSDBAC34 2015 Minutes 19 May 2015 Version 1 0 CC BY SA 4 0 Draft 2015 06 30 GDSDBAC33 2015 Agenda 19 May 2015 Version 1 0 CC BY SA 4 0 Published 2015 05 12 GDSDBAC32 2015 Minutes 17 March 2015 Version 1 0 CC BY SA 4 0 Published 2015 05 12 GDSDBAC31 2015 Agenda 17 March 2015 Version 1 0 CC BY SA 4 0 Published 2015 03 11 GDSDBAC30 2015 Minutes 20 January 2015 Version 1 0 CC BY SA 4 0 Published 2015 01 27 GDSDBAC29 2014 Agenda 20 January 2015 Version 1 0 CC BY SA 4 0 Published 2014 12 11 GDSDBAC28 2014 Minutes 18 November 2014 Version 1 0 CC BY SA 4 0 Published 2014 12 10 GDSDBAC27 2014 Agenda 18 November 2014 Version 1 0 CC BY SA 4 0 Published 2014 11 11 GDSDBAC26 2014 Minutes 16 September 2014 Version 1 0 CC BY SA 4 0 Published 2014 10 30 GDSDBAC25 2014 Agenda 16 September 2014 Version 1 0 CC BY SA 4 0 Published 2014 08 20 GDSDBAC24 2014 Minutes 29 July 2014 Version 1 0 CC BY SA 4 0 Published 2014 08 13 GDSDBAC23 2014 WG08 Ethics

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/gdsdbac-documents.html (2016-02-10)
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  • Position Papers - ICO - Human Variome Project
    2013 11 12 PP ICO 10 2013 AP06 2013 Diagnostic Grade VCF Specification ICO Comments Version 1 0 CC BY SA 4 0 Published 2013 08 13 PP ICO 09 2012 AP04 Sequence Variant Description Committee ICO Comments Version 1 0 CC BY SA 4 0 Published 2012 12 12 PP ICO 08 2012 AP03 2012 Minimal content for gene variant databases LSDBs ICO Comments Version 1 0 CC BY SA 4 0 Published 2012 10 19 PP ICO 07 2012 AP02 2012 Assigning Pathogenicity to a Genetic Variant ICO Comments Version 1 0 CC BY SA 4 0 Published 2012 09 28 PP ICO 06 2012 AP01 2012 Disclaimer Statements on LSDB Websites ICO Comments Version 1 0 CC BY SA 4 0 Published 2012 05 30 PP ICO 05 2012 Assessing Genomic and Genetic Services in a Country Version 0 1 CC BY SA 4 0 Draft 2012 05 21 PP ICO 04 2012 The HVP4 Ethics Panel Session a starting point Version 1 0 CC BY SA 4 0 Published 2012 05 07 PP ICO 03 2011 Mechanism for the establishment of new gene disease specific databases under the Country Node and Cooperation Agreement with China Version

    Original URL path: http://www.humanvariomeproject.org/activities/work-products/position-papers.html (2016-02-10)
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  • WG02: Assigning Pathogenicity to a Genetic Variant - Human Variome Project
    Minimum Content of a Country Specific Database WG08 Ethics Checklist for Gene Disease Specific Database Curators and Submitters Recommended Systems Home Solutions Standards and Guidelines under Development WG02 Assigning Pathogenicity to a Genetic Variant WG02 Assigning Pathogenicity to a Genetic Variant The accurate interpretation of genetic variants is fundamental to the ability to provide appropriatehealth care and a key part of the mission of the Human Variome Project The development adoptionand continued use of standardised processes based on qualitative quantitative or a mixture of both methods is necessary to ensure that interpretations are consistent with current knowledge able to bedefended as required and can be repeatedly generated Key Documents Assigning Pathogenicity to a Genetic Variant AP02 2012 AP02 2012 Assigning Pathogenicity to a Genetic Variant ICO Comments PP ICO 07 2012 WG02 Assigning pathogenicity to a genetic variant Charter ISAC12 2013 Working Group Members Marc Greenblatt Chair Stage History Date Stage Code 31 08 2012 0010 27 09 2012 0020 07 11 2012 0050 07 11 2012 0080 07 11 2012 1050 07 11 2012 1080 21 01 2013 1099 Navigate Home About Activities Solutions Resources Meetings Blog Donate Members Login More Sitemap Privacy Policy Search Login Contact Us Contact

    Original URL path: http://www.humanvariomeproject.org/sdp/wg02-assigning-pathogenicity-to-a-genetic-variant.html (2016-02-10)
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  • WG03: Minimal content for gene variant databases (LSDBs) - Human Variome Project
    Database Curators and Submitters Recommended Systems Home Solutions Standards and Guidelines under Development WG03 Minimal content for gene variant databases LSDBs WG03 Minimal content for gene variant databases LSDBs Quality gene disease specific databases of genetic variation LSDBs are highly desired and heavily discussed To indicate their quality curators of gene variant databases LSDBs would like to state that they follow the HVP HGVS recommendations regarding data content and display 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 Key Documents Minimal content for gene variant databases LSDBs AP03 2012 AP03 2012 Minimal content for gene variant databases LSDBs ICO Comments PP ICO 08 2012 WG03 2012 Minimal content for gene variant databases Charter ISAC13 2013 Schedule of Work N A Working Group Members Peter Taschner Chair Mauno Vihinen Mireille Claustres Arleen Auerbach Raymond Dalgleish Peter Robinson Stage History Date Stage Code 17 10 2012 0010 19 10 2012 0020 07 11 2012 0050 07 11 2012 0080 07 11 2012 1050 07 11 2012 1080 21 01 2013 1099 15 03 2013 2010 15 03 2013 2020 Navigate Home About Activities Solutions Resources

    Original URL path: http://www.humanvariomeproject.org/sdp/wg03-minimal-content-for-gene-variant-databases-lsdbs.html (2016-02-10)
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  • WG04: Sequence Variant Description Committee - Human Variome Project
    have been developed regarding the description of sequence variants the so called HGVS recommendations for the description of sequence variants Mutation nomenclature Over time these recommendations have developed into a standard that is used world wide esp in the field of human genetics Questions regarding the current recommendations and requests for modifications and extensions directed at the HGVS are currently collected answered and discussed by Johan den Dunnen using the HGVS website http www hgvs org mutnomen Final decisions on specific topics are made a bit ad hoc based on community opinions gathered through the website and discussed at meetings of the HGVS and HVP What is highly desired is a committee of experts that meets regularly to discuss the topics raised and together make a more official decision Key Documents Sequence variant description committee AP04 2012 AP04 Sequence Variant Description Committee ICO Comments PP ICO 09 2012 WG04 2012 Sequence variant descriptions Charter ISAC14 2013 Working Group Members Johan den Dunnen Chair Stylianos Antonarakis Donna Maglott Jean McGowan Jordan Peter Taschner Raymond Dalgleish Marc Greenblatt Anne Francoise Roux Reece Hart Stage History Date Stage Code 2012 11 07 0010 2012 12 14 0020 2012 12 17 0050 2012 12

    Original URL path: http://www.humanvariomeproject.org/sdp/wg04-sequence-variant-description-committee.html (2016-02-10)
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