Integration of New Generation Multi-omics Analyses for the Diagnosis of Genetic Neurodevelomental Disorders

Conditions

• Intellectual Disability
• Neurodevelopmental Disorder (Diagnosis)
• srGS
• lrGS
• Short-read Genome Sequencing
• Long-read Genome Sequencing

Interventions

• DIAGNOSTIC_TEST: Re-analysis of available srGS data
• DIAGNOSTIC_TEST: Re-analysis of available srGS data, followed by complementary analyses (lrGS sequencing, mRNA, and GMOs)
• DIAGNOSTIC_TEST: srGS sequencing
• DIAGNOSTIC_TEST: Short-read sequencing (srGS) followed by long-read sequencing (lrGS,), mRNA-sequencing and GMO testing

Sponsor

Centre Hospitalier Universitaire Dijon