Precise diagnosis of neurodevelopmental disorders (NDDs), which often have genetic causes, is a challenging and important problem. Here we describe the results of a recent pilot study using PacBio CCS sequencing reads, which are both long and accurate the basepair level, to analyze 6 proband-parent trios affected by an NDD that remains undiagnosed after extensive testing, including short-read genome sequencing. Our results suggest that long-read genomes may reveal biologically and clinically relevant information in many families affected by unexplained NDDs.
1. Understand the role of genome sequencing for neurodevelopmental disorder diagnosis
2. Define the types of genetic variation that can be uncovered more effectively by long reads than short reads