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The Imagine’s genomics core facility was created in 2008 to provide high-throughput genotyping, sequencing and gene expression services to the Necker research community on a fee-for-service basis. Experimental design and the, analysis and interpretation of results are performed on an interactive basis with investigators and the bioinformatics facility (Imagine Foundation/Paris Descartes University).

  • Aurore Pouliet  01 42 75 42 91 
  • Mohammed Zarhrate  01 42 75 42 91 
  • Technology Platforms:

    • Two high troughtput next generation sequencers HiSeq2500, Illumina
    • One next generation sequencer Ion Torrent PGM (Personal Genome Machine), Life Technologies
    • One next generation sequencer MiSeq, Illumina
    • A GeneChip microarray plateform, Affymetrix

    Other equipments:

    • DNA shearing: Covaris S2, Covaris E220, Hydroshear, GeneMachines
    • Capillary electrophoresis: Bioanalyser 2100 and Tape Station 2200 Agilent Technologies
    • Nucleic acids measurement: Nanodrop ND-1000 spectrophotometer (Thermo Scientific), QuBit fluorimeter (Invitrogen), real time PCR StepOnePlus (Life Technologies)

    Plateforme Génomique

     Imagine - Institut des maladies génétiques - 3e étage

    24 Boulevard du Montparnasse, 75015 Paris

    Tel : 0033(0)1 42 75 43 01 - 0033(0)6 45 74 33 20

    The core facility provides:

    • An help to the experimental design
    • The quality check of DNAs and RNAs samples
    • The nucleic acids amplification, labeling and hybridization on Affymetrix microarrays
    • The library construction, clonal amplification and sequencing with next generation sequencers
    • The primary data analysis and transfer to the bioinformatics facility for further data analysis


    Proposed applications:

    • Targeted re-sequencing: exome sequencing mainly and other types of targeted re-sequencing
    • Gene expression profiling in man and mouse
    • Linkage analysis, Copy Number Variation analysis and association studies
    • Other applications of next generation sequencing: ChIP-Seq (sequencing of immunoprecipitated chromatin), sequencing of amplicons and other types of applications



    Please contact us by e-mail or telephone to get the price list of the various services.


    Documents à consulter :

    List of 10 representative publications in collaboration with Necker investigators edited between 2009 and 2013:

    1. Vera G, Rivera-Munoz P, Abramowski V, Malivert L, Lim A, Bole-Feysot C, Martin C, Florkin B, Latour S, Revy P, de Villartay JP. Cernunnos deficiency reduces thymocyte life span and alters the T cell repertoire in mice and humans. Mol Cell Biol. 2013 Feb;33(4):701-11. doi: 10.1128/MCB.01057-12. Epub 2012 Dec 3.
    2. Huber C, Faqeih EA, Bartholdi D, Bole-Feysot C, Borochowitz Z, Cavalcanti DP, Frigo A, Nitschke P, Roume J, Santos HG, Shalev SA, Superti-Furga A, Delezoide AL, Le Merrer M, Munnich A, Cormier-Daire V. Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia. Am J Hum Genet. 2013 Jan 10;92(1):144-9. doi: 10.1016/j.ajhg.2012.11.015. Epub 2012 Dec 27.
    3. Mahévas M, Patin P, Huetz F, Descatoire M, Cagnard N, Bole-Feysot C, Le Gallou S, Khellaf M, Fain O, Boutboul D, Galicier L, Ebbo M, Lambotte O, Hamidou M, Bierling P, Godeau B, Michel M, Weill JC, Reynaud CA. B cell depletion in immune thrombocytopenia reveals splenic long-lived plasma cells. J Clin Invest. 2013 Jan 2;123(1):432-42. doi: 10.1172/JCI65689. Epub 2012 Dec 17.
    4. Barak H, Huh SH, Chen S, Jeanpierre C, Martinovic J, Parisot M, Bole-Feysot C, Nitschké P, Salomon R, Antignac C, Ornitz DM, Kopan R. FGF9 and FGF20 maintain the stemness of nephron progenitors in mice and man. Dev Cell. 2012 Jun 12;22(6):1191-207. doi: 10.1016/j.devcel.2012.04.018.
    5. Perrault I, Saunier S, Hanein S, Filhol E, Bizet AA, Collins F, Salih MA, Gerber S, Delphin N, Bigot K, Orssaud C, Silva E, Baudouin V, Oud MM, Shannon N, Le Merrer M, Roche O, Pietrement C, Goumid J, Baumann C, Bole-Feysot C, Nitschke P, Zahrate M, Beales P, Arts HH, Munnich A, Kaplan J, Antignac C, Cormier-Daire V, Rozet JM. Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations. Am J Hum Genet. 2012 May 4;90(5):864-70. doi: 10.1016/j.ajhg.2012.03.006. Epub 2012 Apr 12.
    6. Bredrup C, Saunier S, Oud MM, Fiskerstrand T, Hoischen A, Brackman D, Leh SM, Midtbø M, Filhol E, Bole-Feysot C, Nitschké P, Gilissen C, Haugen OH, Sanders JS, Stolte-Dijkstra I, Mans DA, Steenbergen EJ, Hamel BC, Matignon M, Pfundt R, Jeanpierre C, Boman H, Rødahl E, Veltman JA, Knappskog PM, Knoers NV, Roepman R, Arts HH. Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet. 2011 Nov 11;89(5):634-43
    7. Le Goff C, Mahaut C, Wang LW, Allali S, Abhyankar A, Jensen S, Zylberberg L, Collod-Beroud G, Bonnet D, Alanay Y, Brady AF, Cordier MP, Devriendt K, Genevieve D, Kiper PÖ, Kitoh H, Krakow D, Lynch SA, Le Merrer M, Mégarbane A, Mortier G, Odent S, Polak M, Rohrbach M, Sillence D, Stolte-Dijkstra I, Superti-Furga A, Rimoin DL, Topouchian V, Unger S, Zabel B, Bole-Feysot C, Nitschke P, Handford P, Casanova JL, Boileau C, Apte SS, Munnich A, Cormier-Daire V. Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet. 2011 Jul 15;89(1):7-14.
    8. Putoux A, Thomas S, Coene KL, Davis EE, Alanay Y, Ogur G, Uz E, Buzas D, Gomes C, Patrier S, Bennett CL, Elkhartoufi N, Frison MH, Rigonnot L, Joyé N, Pruvost S, Utine GE, Boduroglu K, Nitschke P, Fertitta L, Thauvin-Robinet C, Munnich A, Cormier-Daire V, Hennekam R, Colin E, Akarsu NA, Bole-Feysot C, Cagnard N, Schmitt A, Goudin N, Lyonnet S, Encha-Razavi F, Siffroi JP, Winey M, Katsanis N, Gonzales M, Vekemans M, Beales PL, Attié-Bitach T. KIF7 mutations cause fetal hydrolethalus and acrocallosal syndromes. Nat. Genet. 2011 Jun;43(6):601-6. Epub 2011 May 8.
    9. Magerus-Chatinet A, Neven B, Stolzenberg MC, Daussy C, Arkwright PD, Lanzarotti N, Schaffner C, Cluet-Dennetiere S, Haerynck F, Michel G, Bole-Feysot C, Zarhrate M, Radford-Weiss I, Romana SP, Picard C, Fischer A, Rieux-Laucat F. Onset of autoimmune lymphoproliferative syndrome (ALPS) in humans as a consequence of genetic defect accumulation. J Clin Invest. 2011 Jan;121(1):106-12. doi: 10.1172/JCI43752
    10. Philippe O, Rio M, Carioux A, Plaza JM, Guigue P, Molinari F, Boddaert N, Bole-Feysot C, Nitschke P, Smahi A, Munnich A, Colleaux L. 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.