Long-read sequencing for the detection of cryptic structural variation in patients with intellectual disability and congenital anomalies

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.

Keywords:long-read sequencing, Structural variants, intellectual disability

Disciplines:Bioinformatics of disease