The CNRGH is the French national research center which enables a response to scientific questions necessitating high throughput sequencing and genotyping thanks to the development and deployment of innovative integrated technologies. The organization of the CNRGH enables optimization of genetic and genomic research on human diseases by creating indispensable links between cohort constitution (DNA samples), identification of the responsible genes, and study of the transcriptome and epigenome.
Integrated with the CEA's Genomics Institute since 2008, the CNRGH is also one of the founding partners of LABEX GENMED and the national infrastructure France Génomique, both of which were successful respondents to the 'Investments in the Future' calls for projects in 2014 and 2011, respectively. In that context and in coordination with its partners, the CNRGH offers the scientific community state of the art expertise and capacities for the production, storage and analysis of data necessary for the implementation of ambitious cooperative projects selected on the basis of scientific excellence criteria in the field of medical genomics, such as, for example, study of autoimmune, psychiatric and cardiovascular diseases, various types of cancer (breast, prostate, kidney), infectious diseases and rare diseases.
Since its creation, the CNRGH has evaluated and integrated the best technical advances in genomics in order to maintain its competiveness at international level. In order to identify the responsible genes and biomarkers associated with human diseases, the CNRGH has set up a set of integrated platforms:
- A bio bank which manages and prepares a great variety of biological specimens in compliance with the ethical recommendations, statutory provisions and data confidentiality,
- A production platforms in human genomics laboratory for whole genome studies on numerous samples:
- SNP genotyping on Illumina and/or Affymetrix very high density chips
- Whole exome and genome sequencing, transcriptome and epigenome sequencing (Miseq, Hiseq2000, Hiseq2500, PGM, Ion Proton)
- A development laboratory enabling implementation of smaller projects:
- Exome sequencing and targeted sequencing (Miseq, Ion Proton, PGM, 3730)
- Transcriptome on DNA chips (Illumina)
- Genotyping targeted by Taqman, Sequenom
- A technological development group, which evaluates emergent technologies and ensures, when necessary, the transfer of those technologies to production platforms,
- An epigenetics laboratory, which is developing a set of innovative technologies for the analysis of DNA modifications and analysis of their influences on gene expression,
- A functional genomics laboratory, which is setting up a series of technologies designed to elucidate the molecular and cellular impacts of genomic variations associated with diseases,
- A bio-informatics laboratory, which develops pipelines and conducts analyses,
- A bio-statistics group, which is responsible for validation of experimental designs and statistical analysis of data,
- A group dedicated to data
quality control.
The CNRGH contributes to national and European programs with respect to the development of technologies and for the study of diseases. The CNRGH is involved in the implementation of ambitious projects including elucidation of the genetic causes of rare diseases, study of the genetic bases of autism and the genetic causes of the toxicity of breast cancer therapies. More recently, the CNRGH committed to production of 'patrimonial' data on the French population in order to supply the scientific community with the reference data needed to identify the genetic/genomic variations underlying diseases. The CNRGH production infrastructures are widely used by the scientific community in France and in Europe. The CNRGH teams have implemented, after scientific evaluation, over 500 research projects derived from about 300 French laboratories and over 60 foreign laboratories. For those activities, the CNRGH has contributed, since its creation, to over 600 publications in internationally reputed scientific journals.