Pacific Biosciences of California, Inc. Announces Collaboration with Genomics England to Sequence Biobanked Rare Disease Samples Using HiFi Sequencing Technology

Pacific Biosciences of California, Inc. announced a collaboration with Genomics England to study PacBio's technology for identifying genetic variants in unexplained rare disease cases. Genomics England was initially created to deliver the 100,000 Genomes Project – the whole genome sequencing disease cohort of cancer and rare disease participants in the National Health Service (NHS). The study will re-sequence a selection of samples collected during Genomics England's 100,000 Genomes Project, which were previously analyzed with short read sequencing technology.

The study is intended to reveal potential operational and clinical benefits of long-read sequencing in identifying genetic mutations associated with rare diseases.