Code
01CD5423
Duration
16 September 2023 → 15 September 2024
Funding
Regional and community funding: Special Research Fund
Promotor
Fellow
Research disciplines
-
Medical and health sciences
- Bioinformatics of disease
Keywords
Structural variants
intellectual disability
long-read sequencing
Project description
Nearly 40% of patients with intellectual disability do not receive a molecular diagnosis today. This is due to current diagnostic techniques failing to detect all possible variants within the human genome, including structural variants. We are applying a new technique called long-read sequencing to reduce the number of undiagnosed patients with intellectual disability.