The National Center of Human Genomics Research (CNRGH) is part of the François Jacob Institute of biology (IBFJ) within the Fundamental Research Division (DRF) of the CEA. The CNRGH’s main objective is to advance research of the genetics/genomics of human diseases through internal and collaborative research programs. For this purpose, the CNRGH has developed a number of state-of-the-art genomics technology platforms and laboratories for the management of biological resources, for discovery of disease genes and biomarkers, and for follow-up studies using various approaches including functional genomics. Key platforms include high-throughput platforms for genotyping, sequencing (WGS, WES, genes panel etc.), expression profiling (RNA-seq), DNA methylation analysis and a number of functional genomic applications (e.g. oxWG-BS, WG-BS, HiC, DNase-seq, ATAC-seq, ChIP-seq etc.). A team of bioinformaticians and bioanalysts ensure data quality control, management and interpretation respectively. In addition there is a laboratory dedicated to technological development that performs extensive testing on the latest omics based technologies to evaluate them and determine if they are ready for routine production. The CEA-CNRGH has been extensively testing the latest long-read technologies including the Chromium platform (10X Genomics), the MinION and PromethION (Oxford Nanopore Technologies). The CEA-CNRGH also has access to the Saphyr optical mapping platform (BionanoGenomics). Consequently, the CEA-CNRGH continually ensures that it remains both up to date and attractive to the scientific community. As a national center, the CEA-CNRGH’s mission is to provide the best access to its platforms to the scientific community. The platforms are used for in-house and collaborative projects and a significant part of the capacity is reserved to host external projects. The infrastructure offered by the CEA-CNRGH results each year in more than 100 collaborative projects and 70 publications. The CEA-CNRGH employs a total of 80 staff (scientists, engineers, technicians, administrative & support personnel) that are regrouped into several scientific platforms, a bioinformatics group and an administration unit

The CEA-CNRGH will offer Transnational Access in advanced epigenomic sequencing (including oxWG-BS, WG-BS, RRBS and HiC), long read sequencing (including MinION, PromethION, 10X Chromium and BionoanoGenomics) and will offer extensive integrative analysis.

Technical equipment and infrastructure 

The CEA-CNRGH is extensively equipped for genomic studies. The genomic capacity of the CEA-CNRGH is one of the largest in Europe in terms of biological resource handling (more than 90,000 samples per year) including a capacity for performing 12000 WGS per year. The CEA-CNRGH is in the top 3 European sequencing/genotyping facilities with a platform of 15 high and medium throughput Illumina sequencers (NovaSeq6000, HiSeq4000, several HiSeq2500, NextSeq500, Miseq) and a HiSeq X5 platform allowing to generate a whole genome at a reasonable cost. The CEA-CNRGH also has both the MinION and PromethION nanopore sequencing devices from Oxford Nanopore and the Chromium platform from 10X Genomics. Data analysis can be done at the CEA-CNRGH that is fully equipped to cope with big data (5000 physical cores with nodes carrying from 64 to 384 GB for a total of 1,764 GB of RAM, and 1,5 PB of disk storage and two 10 Gb/s physical connections to the Très Grand Centre de Calcul (TGCC) at the CCRT (Computing Center for Research and Technology) of the CEA which contains 120.000 cores).