TOWARDS ESTABLISHING STANDARDS
Vienna, Austria
22nd May 2009
| NEWS |
| The PROGRAM is now available here |
This meeting is designed to run as a satellite to the European Society of Human Genetics' Annual Meeting (23-26 May 2009) and the Human Genome Variation Society's (23rd May ) meeting in the same venue.
| The fundamental requirements of any scientific activity are standards. The Human Genome Variation Society and more recently, the Human Variome Project have developed many standards over the years for example for DNA sequence variation description and database content. Recommendations link
Many areas of gene variation reporting, collection and storage still require standardization and some are now under development. Speakers participating in this forum have been invited to speak about standards and nomenclature that they are involved with and which require development and discussion. We are seeking action plans and ways forward to provide the genetic variation community the best possible frames of reference into the future. |
High profile speakers have been and will be chosen to provide you with up-to-date information about Variation Nomenclature & Standards of the Human Variome Project. There will be ample time in the programme for open discussion. The meeting will provide a good opportunity for you to share your experiences and ideas with your colleagues and has been designed to maximize exposure of the field, with an emphasis on single gene disorder, (where the need is most on the clinical level) to the various systems available and planned to enhance cross collaboration and avoid unnecessary work and expense. The aim of the HVP is to generate a common system which can be applied to all genes in all countries to collect variations and their effects.
Information about the Human Variome Project and the intense Planning Meeting that was held in Barcelona, Spain in May 2008 may be found at: http://www.humanvariomeproject.org and published in the Open Access article in Human Mutation
We hope that you are able to attend.
If you choose to also attend the Human Genome Variation Society Meeting "Genome Wide Association Studies: the last mile problem'' on the 23rd May http://www.hgvs.org/Vien09/ you can take out a Joint Registration Package and register at the same time.
Invited Speakers
- Johan T. den Dunnen (Chair)- How to describe sequence changes & standards for locus specific databases
- Myles Axton - Standards in variation reporting and attribution
- Christophe Beroud^ - Databases and current law
- Sylvie Tuffery-Giraud - Towards a standard for gene-specific collection in a country - DMD in France
- Robert Hoffman - Wiki genes - Towards standards in microattribution
- Sue Povey^ - Towards a standard in ethics of variation databasing
- Peter Robinson - Towards a standard for phenotype ontology for inherited disease
- Rolf Sijmons - Towards standards in clinical documentation
- Sean Tavtigian - Towards standards for unclassified variants
- Mauno Vihinen - Status of variation ontology standards
- Others to be announced shortly
Abstracts
The Human Variome Project invites submissions of abstracts within the topic of Nomenclature & Standards. You are welcome to attend the meeting without submitting an abstract. Only those registering are able to submit abstracts. SORRY ABSTRACT SUBMISSION HAS NOW CLOSED.
Details
Friday 22nd May 2009
8:30 AM - 5.00 PM (Registration is from 7:30 am)
Room Linz
Hilton Vienna Danube
Handelskai 269 - A- 1020 Vienna, Austria
Registration Fees
Registration includes administration costs, conference materials, coffee breaks & lunch.
All prices are in Euro.
You can also register for the HGVS meeting to be held on 23rd May http://www.hgvs.org/Vien09/ in the same venue at the same time by taking out a joint package if you wish.
| Category | Earlybird (until 30th April 2009) |
Regular (from 1st May 2009 - onsite) |
|---|---|---|
| HVP Meeting only | 75 | 80 |
| Joint Registration HVP & HGVS Meeting - HGVS Member | 150 | 155 |
| Joint Registration HVP & HGVS Meeting - Non- HGVS Member | 185 | 190 |
Click here to register now. Registration