PacBio announced Radboud University Medical Center (Radboudumc) in Nijmegen, the Netherlands will increase their SMRT sequencing capacity with the addition of two new PacBio Sequel IIe Systems. Among their discoveries, the Radboudumc team has found using PacBio systems makes it easier to identify variants that may cause X-linked color vision deficiencies such as Bornholm Eye Disease and Blue Cone Monochromacy. In addition, they use the Sequel system for mitochondrial DNA (mtDNA) sequencing because it is much more efficient. Unexpected benefits were seen both in efficiency and sensitivity with small amplicon-based sequencing for IGH mutation analysis in CLL (chronic lymphocytic leukemia) cancer samples.

Running similar tests on CLL samples using other technology platforms is labor intensive, requiring time-consuming follow-up tests and thus negatively affecting turn-around times. The Sequel IIe System generates HiFi sequencing reads, which provide the accuracy and completeness required for investigating DNA variation in rare genetic diseases and cancer. Short-read WGS can lead to sequence gaps and incomplete coverage of disease-causing gene regions.

HiFi WGS produces reads approximately 100 times longer than short-read WGS, enabling haplotype phasing and comprehensive variant detection beyond small variant focused short reads.