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Mitochondrial and Cardiovascular Physiopathology | UMR Inserm U1083 - CNRS 6015

Separated by coma

David Goudeneige


david.goudenege @

Keywords: NGS, clinical bioinformatic, mito-informatic, variant analysis





State of the  art and objectives

  • Development of in silico tools dedicated to mitochondrial disorders diagnosis.
  • Improve mitochondrial variants prioritization by taking into account mitochondrial genome specificities.
  • Improve mitochondrial genome analysis from WES and WGS sequencing.

Main results from the last 5 years

  • In silico analysis workflow, databases and interface deployment for NGS diagnosis (Angers University Hospital).
  • Development of a new tool dedicated to mitochondrial genome deletions prediction.
  • Transcriptomic analysis for research project.

People involved

Master Bioinformatics 2nd year students, bioinformatic 3nd year engineer students and phD fellowship.

Main publications from the 5 last years

  •  Bris C, Goudenege D, Desquiret-Dumas V, Charif M, Colin E, Bonneau D, Amati-Bonneau P,Lenaers G, Reynier P, Procaccio V. Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing. Front Genet. (2018)
  •  Goudenège D, Bris C, Hoffmann V, Desquiret-Dumas V, Jardel C, Rucheton B, Bannwarth S, Paquis-Flucklinger V, Lebre AS, Colin E, Amati-Bonneau P, Bonneau D, Reynier P, Lenaers G, Procaccio V. eKLIPse: a sensitive tool for the detection and quantification of mitochondrial DNA deletions from next-generation sequencing data. Genet Med. (2018)
  •  Wakim J, Goudenège D, Perrot R, Gueguen N, Desquiret-Dumas V, Chao de la Barca JM, Dalla Rosa I, Manero F, Le Mao M, Chupin S, Chevrollier A, Procaccio V, Bonneau D, Logan DC, Reynier P, Lenaers G, Khiati S. CLUH couples mitochondrial distribution to the energetic and metabolic status. J Cell Sci. (2017).
  • Boucret L, Bris C, Seegers V, Goudenège D, Desquiret-Dumas V, Domin-Bernhard M, Ferré- L'Hotellier V, Bouet PE, Descamps P, Reynier P, Procaccio V, May-Panloup P. Deep sequencing shows that oocytes are not prone to accumulate mtDNA heteroplasmic mutations during ovarian ageing. Hum Reprod. (2017)



  • MITOMATCHER project partner
  • DATASANTE project partner
  • REGOVAR project partner
  • GRIOTE project partner
  • Co-leader in charge of the bioinformatic work package for genomic medicine 2025 (call 2017).
  • Part-time bioinformatic teacher (IUT Angers)


Acknowledgements for the financial supports

  • Angers University Hospital
  • Inserm
  • CNRS
  • Filnemus
  • Angers University
  • Nantes University
  • Pays de Loire region