Exploring the potential clinical utility of HiFi sequencing for homologous loci (pseudogenes)

PacBio HiFi long-read sequencing has the potential to become a single front-line assay for interrogating rare disease cohorts because of its ability to accurately call and phase all classes of variants. An international group of clinical researchers and PacBio have been collaborating to study the efficacy of HiFi sequencing in interrogating the many possible genetic mechanisms that underlie rare diseases. This presentation provides an overview of the group’s goals and activities and recent results, particularly around correctly resolving clinically relevant genes that lie in areas of high sequence homology or otherwise complex regions of the human genome.