A5059000804- Mitochondrial Function and Pathology
- Metabolism and Genetic Disorders
- Genomics and Rare Diseases
- Molecular Biology Techniques and Applications
- Radiomics and Machine Learning in Medical Imaging
- RNA modifications and cancer
- RNA and protein synthesis mechanisms
- DNA Repair Mechanisms
- Machine Learning in Healthcare
- Single-cell and spatial transcriptomics
- Metabolomics and Mass Spectrometry Studies
- Coenzyme Q10 studies and effects
- Gene expression and cancer classification
- Cancer Genomics and Diagnostics
- AI in cancer detection
- Telomeres, Telomerase, and Senescence
- Infectious Encephalopathies and Encephalitis
- Genetic Neurodegenerative Diseases
Centre National de la Recherche Scientifique
2021-2024
Université Côte d'Azur
2021-2024
Inserm
2021-2024
Institut de Recherche sur le Cancer et le Vieillissement de Nice
2021-2024
Centre Hospitalier Universitaire de Nice
2021-2023
Hôpital l'Archet
2022-2023
Abstract Objective The objective of this study was to evaluate the implementation NGS within French mitochondrial network, MitoDiag, from targeted gene panels whole exome sequencing (WES) or genome (WGS) focusing on nuclear‐encoded genes. Methods Over 2000 patients suspected Primary Mitochondrial Diseases (PMD) were sequenced by either panels, WES WGS MitoDiag. We described clinical, biochemical, and molecular data 397 genetically confirmed patients, comprising 294 children 103 adults,...
Abstract Motivation Current advances in omics technologies are paving the diagnosis of rare diseases proposing a complementary assay to identify responsible gene. The use transcriptomic data aberrant gene expression (AGE) has demonstrated yield potential pathogenic events. However, popular approaches for AGE identification limited by statistical tests that imply choice arbitrary cut-off significance assessment and availability several replicates not always possible clinical contexts. Results...
Mitochondrial disorders are characterized by a huge clinical, biochemical, and genetic heterogeneity, which poses significant diagnostic challenges. Several studies report that more than 50% of patients with suspected mitochondrial disease could have non-mitochondrial disorder. Thus, only the identification causative pathogenic variant can confirm diagnosis. Herein, we describe journey family having disorder who were referred to our Genetics Department. The proband presented association...