Report from the International Scientific Advisory Committee - John Burn
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The document summarizes a report from the International Scientific Advisory Committee meeting of the Human Variome Project held from June 11-15, 2012 in Paris. It lists the voting and non-voting members of the committee and provides information on their accountabilities, remit, and domains. These include providing strategic scientific direction, approving publications, authorizing new initiatives, and making recommendations on behalf of the Human Variome Project Consortium. It also mentions functional classification of SNPs identified and goals of establishing standards, facilitating research, and strengthening capacity for sharing genomic data equitably and sustainably.
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Report from the International Scientific Advisory Committee - John Burn
- 1. Report from the International Scientific Advisory Committee John Burn
- 2. HVP4, UNESCO, Paris, 11-15 June 2012
- 3. An online reference database which will provide free access to all variants which have been assessed and their functional significance validated www.thehumanvariomeproject.org LOVD Nat Genet, 2007. 39(4): p. 433-6
- 4. 4@variomeproj #HVP6 Membership (Voting) Sir John Burn (co-Chair) National Institute of Health Research UK Garry Cutting (co-Chair) Johns Hopkins School of Medicine USA Raymond Dalgleish University of Leicester UK Jordan Lerner-Ellis Mount Sinai Hospital Canada Finlay Macrae The Royal Melbourne Hospital Australia Ming Qi Zhejiang University Medical School China Raj Ramesar University of Cape Town South Africa Juergen Reichardt James Cook University Australia Peter Taschner Leiden University Medical Center The Netherlands Mauno Vihinen Lund University Sweden Michael Watson American College of Medical Genetics and Genomics USA Martina Witsch-Baumgartner Medizinische Universität Innsbruck Austria
- 5. 5@variomeproj #HVP6 Membership (Non-Voting) Arleen Auerbach The Rockefeller University USA Qasim Ayub Wellcome Trust Sanger Institute UK Mireille Claustres IURC, Institut Universitaire Clinical Research France Collet Dandara University of Cape Town South Africa Johan T. den Dunnen Leiden University Medical Center The Netherlands Mona El-Ruby National Research Centre Egypt Aída Falcón de Vargas Venezuelan Central University Venezuela Marc Greenblatt (HGVS President) University of Vermont USA Ada Hamosh McKusick-Nathans Institute for Genetic Medicine USA Helena Kääriäinen (IFHGS President) National Institute for Health and Welfare Finland Dhavendra Kumar University Hospital of Wales UK Rita Inés Noher de Halac National University of Cordoba Argentina Heidi Rehm Harvard Medical School USA Augusto Rojas Martínez Universidad Autónoma de Nuevo León Mexico Katsushi Tokunaga University of Tokyo Japan Thomas Weber Dept. Veterans Affairs New York Harbor Healthcare System USA Ingrid Winship University of Melbourne Australia
- 6. 6 Accountabilities • Providing strategic scientific direction to the Human Variome Project Consortium • Approving the publications of HVP Standards and Guidelines • Chartering Working Groups to work on issues that are not primarily of concerns to gene/disease specific databases or HVP Country Nodes • Authorising the creation of new Project-Wide Initiatives • Making HVP Recommendations • Making Statements on behalf of the Human Variome Project Consortium Domains • Standards Development Process • HVP Standards and Guidelines • HVP Recommendations • Statements on behalf of the Human Variome Project Consortium • Membership requirements of Consortium member classes @variomeproj #HVP6 Remit Purpose Provide advice and consent on the scientific aspects of the activities of the Human Variome Project
- 7. Functional classification of JDW SNPs SNP Type Known SNPs Novel SNPs Missense 8967 2421 Nonsense 44 5 Synonymous 9121 2261 UTR 18517 7102 Intron 922048 381924
- 11. 11 • standards & nomenclature • Facilitate • Support..integration • Research…variome • Strengthen capacity • Sharing...equitable... .sustainable @variomeproj #HVP6 BRCA Challenge & GG2020
- 12. Mike Fin Garry John Dick