Thème
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.
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.
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.