9 Oct
2012
9 Oct
'12
5:23 p.m.
This is to remind you that the deadline for the survey is tomorrow. Here are the results
so far per country:
Denmark 1
Estonia 1
France 2
Germany 4
Ireland 1
Slovenia 1
Spain 8
Sweden 6
Switzerland 7
the Netherlands 5
Turkey 4
We still have no response from many European countries, which lowers the value of our
survey.
Please get in touch with me if you know specific people who have not filled in the survey
and can do so quickly.
You'll find the names of the institutes who have answered below,
Kind regards,
Gabrielle
Dept. Medical Sciences, Molecular Medicine
national centre for medical genetics
The EStonian Genome Center of University of Tartu
Diagnostikcentrum, Clinical Pathology and Clinical Genetics
University of Lausanne
CHUV
Uppsala University; SNP&SEQ Technology platform + Uppsala Genome Center
University Hospital Copenhagen
Institute of Medical Genetics at the University of Zurich
Kantonsspital Olten
Division of Human Genetics
Leiden University Medical Center
Center for Human Genetics and Laboratory Medicine
Institut Central des Hopitaux Valaisans-RSV
Humangenetics
İstanbul University Institute of Experimental Medicine
Max Planck Institute for Molecular Genetics
UMC Utrecht
Leiden University Medical Center
TUBITAK, MAM, Genetic Engineering and Biotechnology Institute
VUMC
Lund University Diabetes Centre
Science For Life Laboratory
Department of Medical genetics & Inserm U 910
Helmholtz Zentrum Zentrum München
Hôpital Timone Enfants et faculté de Médecine
Center for Genomic Regulation
INGEMM
Fundacion Investigación Clínico de Valencia-INCLIVA
Instituto de Salud Carlos III
Uppsala University. Immunology, Genetics and Pathology / SciLifeLab
Hospital Universitario Ramon y Cajal
Hospital de Terrassa
Complexo Hospitalario Universitario de Santiago
Clinical institute of medical genetics Ljubljana
Maastricht UMC+, Department of Clinical Genetics
Sabanci University
Institute of Medical Genetics and Applied Genomics, University of Tuebingen
Hospital San Pedro de Alcántara
TUBITAK-BILGEM
From: Gabrielle Anne Bertier
Sent: 28 September, 2012 18:12 PM
To: 'geuvadis_partners(a)lists.crg.es'.es'; 'geuvadis_exome(a)lists.crg.es'.es';
'geuvadis_wpl(a)lists.crg.es'.es'; 'geuvadis_rnaseq(a)lists.crg.es'.es';
'geuvadis_rna_analysis(a)lists.crg.es'
Cc: Xavier Estivill; Michela Bertero; 'Bea Sobrino'
Subject: IMPORTANT NOTICE: GEUVADIS survey DEADLINE EXTENDED
Dear all,
I remind you that we would highly appreciate if you could fill in, and distribute our
survey on NGS to all your relevant colleagues.
Note that we've extended the deadline to the 10th October 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