Thème
Publication
Unveiling ocular developmental disorders through short-read whole-genome sequencing
Contribution to a national cohort study on the diagnostic yield of short-read whole-genome sequencing in ocular developmental disorders.
Project
MobiDeep
AI meta-score developed with the MoBiDiC group (CHU Montpellier) for prioritizing non-coding variants in whole-genome sequencing.
Project
Onkogene.com
Scientific literature monitoring platform for solid tumor genomic medicine, powered by a self-improving AI framework.
Publication
MobiDeep: an AI-based meta-score for scoring non-coding DNA variations
Preprint on an AI meta-score for prioritizing non-coding variants.
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.
Publication
Expanding the Phenotypic Spectrum Associated With Loss-of-Function SMARCA4 Variants to Eye Developmental Anomalies
Contribution to an article on SMARCA4 and ocular developmental anomalies.
Media
Exploring Invisible DNA
Fondation Groupama article on MobiDeep, AI and rare disease diagnosis.
Media
Research Project to Accelerate Rare Disease Diagnosis
Fonds Guilhem page on the MobiDeep project supported by Fondation Groupama.
Talk
MobiDeep: A Benchmark-Driven Ensemble Learning Approach
Recorded talk on MobiDeep at the Western France Genetics Seminar.
Publication
The Clinical and Genetic Landscape of a French Multicenter Cohort of 2563 Epilepsy Patients
Contribution to a French multicenter cohort of patients referred for genetic diagnosis of epilepsy.
Grant
ANPGM Michel Goossens Grant
Awardee of the 2025 ANPGM Michel Goossens call for projects.
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.
Grant
Fondation Groupama Rare Diseases Funding
Support from Fondation Groupama and Groupama Mediterranee for the MobiDeep project.
Publication
Expanding the TUBB3-Related Phenotypic Landscape
Article on fetal diagnosis of a novel TUBB3 variant and intrafamilial phenotypic variability.
Publication
Short Stature Related to the SHOX Gene
Contribution to a retrospective multicenter study on CNVs and SHOX sequencing.
Talk
Intrafamilial Variability in Tubulinopathies
Recorded talk at the Western France Genetics Seminar on tubulinopathies.