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Center of Modeling, Simulation and Interactions

Pilot Project 1: Genetics


The genetic diagnosis of rare diseases has been revolutionized by new high-throughput sequencing (HTS) technologies that generate massive data and thus raise new data usage challenges. In this context, the MDLab is involved in:

  • the adaptation of the throughput, computing and storage capacities required to process massive data from the NGS, including Whole Genome Sequencing (WGS);
  • the development of pipelines and computer tools for data analysis;
  • the establishment of clinical-genomic databases interoperable with European databases;
  • the implementation of two research projects concerning the cross-referencing of multi-OMIC data, and the determination of the fraction of fetal DNA circulating in maternal blood for non-invasive screening for trisomy 21 by NGS.

Project members: Prof. Sylvie Bannwarth (CHU Nice, IRCAN UCA), Dr. John Boudjarane (CHU Timone, Marseille), Dr. Véronique Duboc (CHU Nice, IRCAN UCA), Prof. Véronique Paquis-Flucklinger (CHU Nice, IRCAN UCA), Prof. Vincent Procaccio (CHU Angers), Dr. Cécile Rouzier (CHU Nice, IRCAN UCA), Dr. Samira Saadi (CHU Nice, IRCAN UCA).