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  2. Core Facilities

About us

  • Next Generation Sequencing, High-throughput genotyping, Methylome

    The UMS2008 Functional Genomics Core Facility was created in 2012 and is built on the expertise of the UMR1256 n-GERE in the field of NGS sequencing for rare disease patients.

    The Core Facility provides to the scientific, academic and industrial community high-tech equipment adapted to the projects of:

    • High throughput genotyping on BeadChip Infinium Illumina chips.
    • Study of the methylation of the human genome on Infinium Methylation EPIC-Illumina chips.
    • Preparation and NGS sequencing of DNA libraries (MiSeq-Illumina sequencer, soon NextSeq 550-Illumina).
    • Bioinformatic analysis of omics data.

Access and Fees

  • The Core Facility is open to the academic and industrial scientific community at the local, national and internation level.

    The team is at your disposal to help you by bringing its technical and methodological know-how and to follow you from A to Z in your imaging projects.

    The Core Facility has a differential pricing system (members, academic and industrial).

    Any new collaborator must first contact the head of the core facility to define the best strategy to adopt for conducting his study, and obtain a quote.

Publications

  • Alix T, Chéry C, Josse T, Bronowicki JP, Feillet F, Guéant-Rodriguez RM, Namour F, Guéant JL, Oussalah A. Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases. Hum Genomics. 2023 Feb 5;17(1):5.
    logo DOI - Digital Object Identifier 10.1186/s40246-023-00455-x , Logo PMID - PubMed 36740706

  • Oussalah A, Siblini Y, Hergalant S, Chéry C, Rouyer P, Cavicchi C, Guerrini R, Morange PE, Trégouët D, Pupavac M, Watkins D, Pastinen T, Chung WK, Ficicioglu C, Feillet F, Froese DS, Baumgartner MR, Benoist JF, Majewski J, Morrone A, Rosenblatt DS, Guéant JL. Epimutations in both the TESK2 and MMACHC promoters in the Epi-cblC inherited disorder of intracellular metabolism of vitamin B12. Clin Epigenetics. 2022 Apr 19;14(1):52.

    logo DOI - Digital Object Identifier 10.1186/s13148-022-01271-1 , Logo PMID - PubMed 35440018

  • Guéant JL, Chéry C, Oussalah A, Nadaf J, Coelho D, Josse T, Flayac J, Robert A, Koscinski I, Gastin I, Filhine-Tresarrieu P, Pupavac M, Brebner A, Watkins D, Pastinen T, Montpetit A, Hariri F, Tregouët D, Raby BA, Chung WK,  Morange PE, Froese DS, Baumgartner MR, Benoist JF, Ficicioglu C, Marchand V, Motorin Y, Bonnemains C, Feillet F, Majewski J, Rosenblatt DS. APRDX1 mutant allele causes a MMACHC secondary epimutation in cblC patients. Nat Commun. 2018 Jan 4 ; 9(1):67.

    logo DOI - Digital Object Identifier 10.1038/s41467-017-02306-5 , Logo PMID - PubMed 29302025 , logo HAL - Archives Ouvertes HAL-01801484

team

contact

  • Service Mutualisé de Plateformes (SMP) - UMR1256 NGERE
    Bâtiment C, 2ème étage, Campus Brabois-Santé
    9 Avenue de la Forêt de Haye, BP 20199
    54505 VANDOEUVRE-LES-NANCY

    Plan du campus Brabois-Santé