Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies KU Leuven
A correct and early genetic diagnosis is essential for patients with intellectual disability and/or multiple congenital anomalies (ID/MCA). A proper diagnosis avoids a ‘diagnostic odyssey’, is vital for family planning, and enables the initiation of early therapeutic interventions in order to improve the outcome. Technical innovations were always instrumental to delineate (new) genetic syndromes and led to an ever-increasing diagnostic yield. ...