Research Explorer

Project

Long-read sequencing for the detection of cryptic structural variation in patients with intellectual disability and congenital anomalies
Code
01CD5423
Duration
16 September 2023 → 15 September 2024
Funding
Regional and community funding: Special Research Fund
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.