Dear all,

I remind you that there are just 4 days left before the deadline to register for our next Annual Meeting (preliminary program attached)

PS: registration form full link: https://docs.google.com/spreadsheet/viewform?formkey=dEpnY0h6Y2Z3Y291dFhvRzFaMncyV0E6MQ#gid=0

 

In preparation of the Workshop, and to collect quantitative and qualitative information on the status of NGS in Europe, we have constructed a survey to be distributed to all Research and/or clinical institutions using NGS in Europe.

The survey covers the following aspects: Technology available (number/type of sequencers, nb of runs, capture method) - Data Use (clinical/research uses) - Patients/participants (origin of samples, consent forms, incidental findings...) - Data storage - Data analysis (general information on analysis pipelines) - Clinical data management - Problems and suggestions.

We would highly appreciate if you could distribute this survey to all your relevant colleagues working in such centers, and fill in the survey for your own institution. We'll also send this survey to the European and National Societies of Human Genetics, and the more responses we get the better !

Deadline to respond to the survey: 30th September 2012

Full survey link:

https://qtrial.qualtrics.com/SE/?SID=SV_bHJDue550PwdFrv

 

To describe the survey please use freely the following text:

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THE GEUVADIS PROJECT - More information on our website: www.geuvadis.eu


The latest high-throughput next-generation sequencing technologies allow investigators to sequence entire human genomes and transcriptomes at an affordable price and within a short time frame. An increasing number of research centers in Europe have access to these technologies, in-house or through regional, national and international infrastructures. Storing, disseminating and analysing the large amount of data produced generate major challenges. Tackling these challenges requires extensive exchange of data, information and knowledge between sequencing centers, bio-informatics networks, the medical research community and the industry at the European level. The GEUVADIS (Genetic EUropean VAriation in DISease) Consortium has four main aims:

  1. Develop standards in quality control and assessment of sequence data
  2. Develop models for sequencing data storage, access and exchange
  3. Develop standards for the handling, analysis and interpretation of sequencing data from DNA (and RNA)
  4. Develop guidelines on the handling of ethical, legal and social implications of phenotype prediction from sequence variation

 

  1. Collect quantitative and qualitative information on the current status of DNA sequence production, storage, exchange and analysis in Europe.
  2. Collect feedback from research/clinical centers on their main challenges and difficulties regarding the management of these large data-sets potentially containing important medical information
  3. Collect information on local standardization efforts, and avoid duplication of efforts throughout Europe
  4. Create a road-map/policy document outlining the necessary steps to take national standards to the European level

  1. Results of this survey will be presented at an internal GEUVADIS workshop, on October 30-31st 2012.
  2. We will disseminate the road-map to potential funders (private of public), including the European Commission and other possible national public funders.
  3. We will submit an abstract to the Joint Conference of Human Genome Meeting 2013 and 21st International Congress of Genetics.

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If you have any question or comment regarding the Annual Meeting, the workshop and/or the survey please don't hesitate to contact me.

Kind regards,

Gabrielle.-

 

 

Gabrielle Bertier

Scientific Project Manager
International and Scientific Affairs
CRG, Center for Genomic Regulation
Carrer Dr. Aiguader, 88

08003 Barcelona, Espaņa
Tel: +34933160374
Mobile: +34639960656
email: gabrielle.bertier@crg.es

web: www.geuvadis.eu; www.fliact.eu