Anne-sophie Denommé-pichon
Praticien Hospitalier
Dijon, Bourgogne – Franche-Comté, France
Summary
👤
Senior🎓
Top SchoolAnne-Sophie Denommé-Pichon is a physician-geneticist and bioinformatics specialist with 11 years of experience combining clinical practice and genomic data analysis at CHU de Dijon. She leads and develops open-source diagnostic tools (notably REGOVAR) and pilots e-health initiatives for rare developmental disorders, bridging bench-to-bedside genomics and digital health. Her work spans prenatal and postnatal pangenomic diagnostics, oncogenetics consultations, and research-focused exome/whole-genome pipelines informed by a doctorate in bioinformatics. Active in governance, she serves on the boards of national genetics education and diagnostic bioinformatics networks, shaping standards for clinical genomics in France. Trained across top institutions (including Baylor and Institut Pasteur) she brings rare-disease expertise, computational rigor and practical deployment experience. Colleagues describe her as a clinician-scientist who translates complex algorithms into usable tools for routine diagnostic care.
10 years of coding experience
Analyse de génomes, Bioinformatique et algorithmique, Mention bien, Analyse de génomes, Bioinformatique et algorithmique, Mention bien at Institut Pasteur de ParisDoctorat de médecine, Génétique moléculaire, Doctorat de médecine, Génétique moléculaire at Université de médecine d'AngersCertificat informatique et internet (niveau 1), Major, Certificat informatique et internet (niveau 1), Major at Université Henri Poincaré (Nancy I)Doctorat de bioinformatique, Bioinformatics, Doctorat de bioinformatique, Bioinformatics at École doctorale Bourgogne France-ComtéDiplôme inter-universitaire Séquençage haut débit et maladies génétiques, Bioinformatique, Diplôme inter-universitaire Séquençage haut débit et maladies génétiques, Bioinformatique at Université de BourgogneFaculté de médecine de NancyDiplôme inter-universitaire d'oncogénétique, Human/Medical Genetics, Diplôme inter-universitaire d'oncogénétique, Human/Medical Genetics at Université Paris DescartesIdentifying Genes for Mendelian Traits using Next Generation Sequence Data, Bioinformatics, Molecular and Human Genetics; Baylor College of Medicine, Houston, Texas, Identifying Genes for Mendelian Traits using Next Generation Sequence Data, Bioinformatics, Molecular and Human Genetics; Baylor College of Medicine, Houston, Texas at Baylor College of MedicineDiplôme inter-universitaire de dysmorphologie et des anomalies du développement, Génétique médicale, Diplôme inter-universitaire de dysmorphologie et des anomalies du développement, Génétique médicale at Université Denis Diderot (Paris VII)
French, English, German, Italian, Esperanto
Github Skills (56)
user-friendly9
next-generation-sequencing9
viewer9
genomics8
systems-biology8
trace-viewer8
trace8
application-server8
biology8
bioinformatics8
jekyll7
science7
predictor6
java6
sequence5
Programming languages (8)
Github contributions (5)
REGOVAR/Regovar
Apr 2017 - Dec 2018
The server application of the Regovar project
Contributions:113 commits, 3 PRs, 108 pushes in 1 year 8 months
application-server
REGOVAR/Sandbox
Mar 2016 - Jun 2020
Contributions:28 commits, 27 pushes, 1 branch in 4 years 3 months
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