Whole Genome Sequencing Captures Additional Variants in the Pediatric Neurology Population

INTRODUCTION
• Up to 50% of neurology-related indications have a genetic cause1
• Whole genome sequencing (WGS) and whole exome sequencing (WES) offer higher diagnostic yields than traditional sequencing methods such as multigene panels
• WGS can capture types of variants that WES can miss, leading to WGS having an increased diagnostic yield even over WES
• There are limited data on the percentage of variants that WGS captures above WES specifically within the pediatric neurology population
• We present our clinical laboratory’s experience with WGS-identified findings in the pediatric neurology population