Report from the International Scientific Advisory Committee - John Burn

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

11

• standards &

nomenclature• Facilitate• Support..integration• Research…variome• Strengthen capacity• Sharing...equitable...

.sustainable

@variomeproj#HVP6

BRCA Challenge & GG2020

Mike Fin Garry John Dick