report from the international scientific advisory committee - john burn
TRANSCRIPT
Report from the International Scientific Advisory Committee
John Burn
HVP4, UNESCO, Paris, 11-15 June 2012
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@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@variomeproj#HVP6
Membership (Non-Voting)
Arleen Auerbach The Rockefeller University USAQasim Ayub Wellcome Trust Sanger Institute UKMireille Claustres IURC, Institut Universitaire Clinical Research FranceCollet Dandara University of Cape Town South AfricaJohan T. den Dunnen Leiden University Medical Center The NetherlandsMona El-Ruby National Research Centre EgyptAída Falcón de Vargas Venezuelan Central University VenezuelaMarc Greenblatt (HGVS President) University of Vermont USAAda Hamosh McKusick-Nathans Institute for Genetic Medicine USAHelena Kääriäinen (IFHGS President) National Institute for Health and Welfare FinlandDhavendra Kumar University Hospital of Wales UKRita Inés Noher de Halac National University of Cordoba ArgentinaHeidi Rehm Harvard Medical School USAAugusto Rojas Martínez Universidad Autónoma de Nuevo León MexicoKatsushi Tokunaga University of Tokyo JapanThomas Weber Dept. Veterans Affairs New York Harbor Healthcare System USAIngrid Winship University of Melbourne Australia
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
PurposeProvide advice and consent on the scientific aspects of the activities
of the Human Variome Project
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
10@variomeproj#HVP6
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• standards &
nomenclature• Facilitate• Support..integration• Research…variome• Strengthen capacity• Sharing...equitable...
.sustainable
@variomeproj#HVP6
BRCA Challenge & GG2020
Mike Fin Garry John Dick