Platform for the identification of human mutations by high-throughput sequencing

How to access
Scientific annex
Application form
Selected projects

Letter, December 11, 2008

The identification of the causes of human diseases of genetic origin is far from finished. In particular, the genes which are only rarely implicated in these disorders must be identified. They are no less important scientifically and medically than the major genes, and this identification is an indispensable condition for the understanding of the biological processes involved. The GIS Institut des maladies rares and IBiSA, the INSERM thematic Institutes of Genetics and Development and Neurosciences, neurology, psychiatry and Genoscope-the National Sequencing Center of the CEA—have decided to construct a platform for the identification of mutations, hereafter called the “mutations” platform. This platform will utilize a combined approach which will include enrichment by hybridization and high-throughput sequencing to identify rare mutations in human pathologies. This platform will be utilized for monogenic diseases as a priority.

How to access the “mutations” platform:

• Projects should be submitted exclusively by academic groups and applications may be sent throughout the year. Projects will be selected by a Scientific Council which will meet every 3 months.

• The first meeting of the Scientific Council took place in February 2009.

• Each project which has received a favorable evaluation will receive aid from the platform for refining the strategy to be chosen as a function of the objectives and the material available

• For projects which involve capture followed by high-throughput sequencing, the applicant groups must ensure the financing of the capture slides and consumables necessary for all the stages of the project. Information to help the groups in preparing the design of their project is included as an annex.
  A presentation on the tools developed at Genoscope was organized on January 29, 2009 in Paris. These presentations are available on-line:
  - Presentation of the mutation platform by Francois Artiguenave
  - Organization and monitoring of projcets by Vincent Meyer
  - Evolution of sequencing methods and organization of the capture of sequences by Gabor Gyapay
  - Sequencing” Presentation of the results of a pilot project by Jean-Marc Aury
  - Bioinformatics treatment and future developments by Marc Wessner
  

• The platform for identification of mutations at Genoscope may be contacted at the following address: Mutations platform:

• Applications may be sent by e-mail to: Sophie Koutouzov GIS-Institut des Maladies Rares: Mail

• The application for the submission of projects is now available and may be downloaded directly from our site, as well as the websites of GIS-Institut des Maladies Rares and INSERM.

(Scientific information can be found on the following page)