Best publications

1. Côte M. et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009 Dec; 119(12):3765-73.
2. Philippe O. et al. Combination of linkage mapping and microarray-expression analysis identifies NF-kappaB signaling defect as a cause of autosomal-recessive mental retardation. Am J Hum Genet. 2009 Dec; 85(6):903-8.
3. Thomas S. et al. Next –Generation Sequencing of a 4.1 Mb Linkage Interval Reveals FLVCR2 Deletions and Mutations in Lethal Cerebral Vasculopathy. Hum Mutat. 2010 Oct; 31(10):1134-41.
4. Magerus-Chatinet A. et al. Bi-allelic germline and somatic events affecting the TNFRSF6 gene are associated with the onset of autoimmune lymphoproliferative syndrome. J Clin Invest. In press.
 
Genomic platform


The genomic facility of the Imagine Foundation was created in 2008 to provide high-throughput genotyping, sequencing and gene expression services to the research community on a fee-for-service basis. Experimental design, analysis and interpretation of results are performed on an interactive basis with investigators and the bioinformatics platform.

 

Available Equipments and services

 

The genomic platform is equipped with:

  • an Affymetrix array Platform
  • a SOLiD next-Generation sequencing system from Life Technologies
  • an Agilent 2100 Bioanalyzer
  • a Nanodrop ND-1000 Spectrophotometer and a Qubit Fluorimete
  • a DNA fragmentation (S2 Covaris and Hydroshear)
  • an emulsion PCR and beads purification (EZ Bead System)
  • a realtime PCR (StepOne)

 

The core facility provides:

  • a free initial consultation to discuss experimental design
  • DNA/RNA quality testing
  • labeling and hybridization to Affymetrix arrays®
  • construction of fragments, paired-end and mate-paired libraries for sequencing on the SOLiD™ System
  • a convenient, password-protected web interface for tracking experiments and accessing results

 

Available services are:

  • Gene expression profiling chez l’homme et la souris
  • Chromosomal copy number analysis
  • LOH
  • Linkage analysis and association studies
  • Targeted resequencing
  • Chromatin Immunoprecipitation Sequencing (ChIP-Seq)

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