French Alternative Energies and Atomic Energy CommissionCentre National de Recherche en Génomique Humaine and NeuroSpin, Commissariat à L'Énergie Atomique Et Aux Energies Alternatives, Paris, France
The French Alternative Energies and Atomic Energy Commission (Commissariat à l’énergie atomique et aux energies alternatives, CEA)) is a public government-funded research organisation working in the areas of energy, defense and security, information technologies and health technologies. Two entities of the CEA are taking part in AIMS-2-TRIALS; CNRGH and NeuroSpin.
The National Human Genome Research Center (CNRGH) is a department of the CEA which main objective is to advance research of the genetics/genomics of human diseases through internal and collaborative research programs. The CNRGH is part of the Institut de Biologie François Jacob (IBFJ) within the Fundamental Research Division (DRF) of the CEA. 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. A team of bioinformaticians and bioanalysts ensure data quality control, management and interpretation respectively. 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.). 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 CNRGH has been extensively testing the latest long-read technologies including the Chromium platform (10X Genomics), the MinION and PromethION (Oxford Nanopore Technologies) and the Saphyr optical mapping platform (Bionano genomics). The CEA-CNRGH has been involved in a number of large-scale European Projects and as a result has acquired experience in participating in collaborative projects at the National and European level. The CEA-CNRGH is well equipped for high-throughput WGS and subsequent data analysis, both of which are important criteria for the success of the multi-omics component of AIMS-2-TRIALS.
NeuroSpin is a research center on the Human brain. Part of the CEA and Paris-Saclay University, the NeuroSpin teams are leaders in very high field MRI, EEG and MEG and carry out studies in fundamental and clinical neurosciences.
Role in AIMS-2-TRIALS
CEA-CNRGH will be involved primarily in the biomarkers project by performing Whole Genome Sequencing (WGS) on the DNA of 1500 samples from various studies that part of the AIMS-2-TRIALS research programme. We will mainly be involved in examining the genomic profiles of the individuals enrolled in the project. CEA-CNRGH will work on the control quality and primary bio-informatic analysis (from fastQ to gvcf) of the sequencing data. The data will then be transferred to partner Institute Pasteur where the data will be analysed extensively, with the aim of creating subgroups according to genetic marker(s).
CEA-NeuroSpin will be involved in the data analysis project. CEA-NeuroSpin will develop and use a multiblock analysis framework to find and understand relationships between behaviour and genes of interest. We will use multivariate analysis, which means that we can include multiple measures to identify patterns in the data. This can help us to understand how different characteristics are related to each other. The analysis will take into account stratifying genes (which may help to identify subgroups of autistic people), genome structure, and known gene regulation networks.
Director of CEA-CNRGH
Senior Research Fellow
Head of Bioinformatics