27 Aug
2012
27 Aug
'12
7:12 p.m.
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=dEpnY0h6Y2Z3Y291dFhvRz…
In preparation of the Workshop, and to collect quantitative and qualitative information on
the status of NGS in Europe, we have constructed a
survey<https://qtrial.qualtrics.com/SE/?SID=SV_bHJDue550PwdFrv> 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:
------------------
THE GEUVADIS PROJECT - More information on our website:
www.geuvadis.eu<file:///C:\Users\gbertier\Documents\GEUVADIS\Annual%20Me…
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
* PURPOSE OF SURVEY
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
* POTENTIAL PUBLICATION OF RESULTS
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.
* DEADLINE: 30.09.2012
---------------------
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, España
Tel: +34933160374
Mobile: +34639960656
email: gabrielle.bertier@crg.es<mailto:gabrielle.bertier@crg.es>
web: www.geuvadis.eu; www.fliact.eu