Talks and Conferences
Talks, conference presentations, materials and videos.
Talk
Prioritization of Non-Coding Variants: Benchmark of Variant Effect Predictors and Development of a New Meta-Score (MobiDeep)
Oral presentation at the 13th French Meeting of Human and Medical Genetics on benchmarking variant effect predictors and developing the MobiDeep meta-score.
Talk
La génétique IA pas mieux !
Co-organized 90-minute interactive workshop on large language models in genetics with BioInfoDiag at the 13th French Meeting of Human and Medical Genetics.
Talk
Contribution of Whole-Genome Sequencing to Ocular Malformations: Review of One Hundred AURAGEN Cases
Contribution to an oral presentation at the 13th French Meeting of Human and Medical Genetics on whole-genome sequencing in ocular developmental anomalies.
Talk
MobiDeep: A Benchmark-Driven Ensemble Learning Approach
Recorded talk on MobiDeep at the Western France Genetics Seminar.
Talk
MobiDeep: an AI-Based Metascore for Robust and Scalable Prioritization of Non-Coding Variants in Whole-Genome Sequencing Data
Talk on MobiDeep at the BioInfoDiag API-hour, June 2025.
Talk
Description of a French Cohort of BPAN Male Patients (X-Linked NBIA) and Review of the Literature
Presentation at EuroDysmorpho, Ljubljana, September 2024, on a French cohort of male BPAN patients.
Talk
Intrafamilial Variability in Tubulinopathies
Recorded talk at the Western France Genetics Seminar on tubulinopathies.
Talk
Prenatal Diagnosis of a New TUBB3 Variant Linked With Anterior Distortion of the Interhemispheric Fissure and Intra-Familial Variability
Presentation at EuroDysmorpho, Barcelona, June 2022, on prenatal diagnosis of a new TUBB3 variant.