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Genomics at CNO

By supporting the development of its genomics facilities, CNO has made this high-throughput technology widely available and helped the successful transfer of the technology to clinical use.

  • The Lille facility supports the CNO teams both in developing experiments using high-throughput genomics and with their analyses. It is supporting the development of very high level translational research (e.g. the Axis 2 projects ALM Reseq and GHEDI), while enabling emerging projects to get off the ground (e.g. the Axis 1 project METACOLO). Between 2011 and 2014, the facility continued to expand, particularly in the area of bioinformatics, carrying out joint work with teams of mathematicians and IT specialists from Lille 1 University and INRIA. At present, strong links are being forged between players involved in research and those involved in clinical practice, resulting in research that is closer to patients' needs.

Contact :
Martin FIGEAC : martin.figeac@inserm.fr

  • The Caen site recently equipped itself for high-throughput sequencing via the Basse Normandie next generation sequencing platform SESAME ("Sequencing for Health, Agriculture, the Sea and the Environment'). In the field of oncology, this platform is used to study hereditary forms of breast and ovarian cancer and to identify molecular targets in tumours with therapeutic potential. This allows high-throughput sequencing technology to be used for diagnostic purposes (e.g. Axis 1's Oncogenetics project).

Contact Dominique VAUR :
d.vaur@baclesse.unicancer.fr

  • The strategy of the Rouen facility has been to specialise in the biological and medical interpretation of genetic variations of unknown significance, one of the major challenges of pangenomic analysis and in particular of NGS. The facility aims to develop and transfer into routine practice new genome exploration methods (QMPSF, ex vivo functional splicing testing), to disseminate these methods through training and to put them into practice in the form of services in the context of collaborative national and international scientific projects. The Bioinformatics Department at Rouen University (LITIS unit) and Inserm unit U1079 have developed bioinformatics analysis of high throughput sequencing data based on the EVA application (Exome Variation Analyzer). This enables filtration of NGS data, classification of genetic variations and comparison of exomes.

Contact Thierry FREBOURG :
thierry.frebourg@chu-rouen.fr

CNO now needs to develop a structured internal expertise in the field of bioinformatics processing of NGS data, in particular in the development of bioinformatics quality control tools, which are vital for such areas as the transfer of NGS from research to diagnostics.