Application note — Comprehensive genotyping with the PureTarget repeat expansion panel and HiFi sequencing
Powered by the exceptional accuracy of HiFi sequencing and the Tandem Repeat Genotyping Tool (TRGT), the PacBio® PureTarget™ repeat expansion panel offers more comprehensive genotyping for 20 of the most important repeat expansions for human health. This application note demonstrates the performance of the PureTarget repeat expansion panel, and presents the PureTarget panel as a scalable, more comprehensive solution for profiling repeat expansions, compared to legacy genotyping and next-generation sequencing methods.