General background
Full elucidation of the genetic basis of disease requires complete genomic information of both patients and healthy individuals. Next-generation sequencing (NGS) technology makes it possible to read the complete genomes of many individuals at affordable costs and in a short time frame. The potential of this technology to reveal the full genetic background of disease is of major importance for effective diagnostic and therapeutic applications, bringing personalized genomic medicine closer to reality. Currently, three "next generation sequencing" platforms are operational in Europe: the Roche 454 FLX Titanium, the Illumina/Solexa Genome Analyzer 2, and the Life Technologies/ABI SOLiD 3. More platforms are expected to be released over the coming years (3rd generation sequencing technology). Correct interpretation of the enormous amount of genetic variants being detected in individual patients is one of the major challenges on the path to medical applications. These challenges could be addressed with extensive exchange of data, information and knowledge between medical scientists, sequencing centres, bioinformatics networks and industry at the European level will greatly aid to solve this challenge.

A number of European countries (e.g. Spain, Germany, Switzerland, the United Kingdom, France and The Netherlands) are putting effort into combining sequencing activities at a national level, but coordination and integration at the European level is currently lacking. GEUVADIS will bring together the expertise, resources and capacities available in the different European countries in order to provide an effective infrastructure for the development of genomic medical applications. This Action would contribute considerably to the development of joint programming initiatives as foreseen by the European Commission.

One of the main objectives of GEUVADIS is to coordinate ongoing and future initiatives in the field of medical genome sequencing in Europe. The GEUVADIS platform will be a space for exchange of expertise in the field of medical genome sequencing. This Action will contribute to this platform by bringing together research groups from the different fields in which NGS is applied - thereby initiating a systemic approach towards medical genomic research. The Action will foresee in the organisation of network meetings, strategic meetings and scientific workshops related to medical genome sequencing. As the exchange of experience is so important for the future development of the field, this Action will pay special attention to the exchange, training and networking opportunities for young scientists.

Project description
The principle scientific approach of the GEUVADIS research projects will be to create a platform that allows sharing of NGS data from thousands of patients from both rare and common disorders. GEUVADIS will provide standards for sample preparation, sample sequencing, and data interpretation across Europe. Another innovative aspect is the integration of research groups that perform medical genomic sequencing on DNA, RNA, and methylation levels. All NGS platforms can generate sequence data for each level, but each platform is based on a specific technology with specific characteristics (e.g. quality score, read length, sequence output). Therefore, data from the different platforms require standardisation prior to integration and sharing. Similarly, standards for patient collection and phenotyping will be discussed in close collaboration with European biobanking initiatives.

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