Long Read Sequencing for the detection of cryptic Structural Variation in patients with intellectual disability and congenital anomalies

Successive technological innovations have repeatedly revolutionized the
genetic diagnostics. Since 1959, trisomy 21 has been identified as the cause of Down syndrome
The introduction of conventional chromosome research has become molecular for the past 60 years
cause for> 5,000 genetic diseases clarified (OMIM, "Online Mendelian Inheritance
in Man "). With current state-of-the-art technologies, based on 2nd generation sequencing
we can obtain larger chromosomal deities / duplications (> 50 kilobases) using genome-wide
copy analysis detected and base pair substitutions and minor deci / duplications (<50 base pairs) with
using whole exome sequencing. Despite these technological innovations, approx
40% of patients with intellectual disabilities still have none
molecular cause. We expect small and combined structural
rearrangements (50 bp-50 kb) explain many of these unresolved cases.
We are going to introduce "single molecule Long Read Sequencing" to increase diagnostic yield
this patient group to improve and thereby also optimize patient care with
regarding preventive, therapeutic and reproductive options.