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PacBio’s Revio System Empowers Bioscientia to Scale Long-Read Whole Genome Sequencing and Unravel the Mysteries of Rare Disease

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PacBio announced that Bioscientia is using its Revio long-read sequencing system to expand its genomics research projects and sequence several thousand human genomes per year. Part of Sonic Healthcare Group, Bioscientia is a leading global provider of clinical laboratory testing services for diagnostics based in Germany. The increased accuracy, read length and methylation insights offered by the Revio system will enable Bioscientia to explore certain monogenic disorders, such as deafness, blindness, and developmental delay, and study the underlying causes of rare diseases.

“Bioscientia is a world-leading provider of testing services, and we are thrilled that they have chosen Revio to explore the potential clinical use of long-read sequencing,” said Christian Henry, President and Chief Executive Officer of PacBio. “Revio will help enable Bioscientia to deliver more insights to families with fewer tests, lower overall costs, and less time spent assembling genome maps. This research is vital for advancing our understanding of the role genetics plays in rare diseases and developmental disorders. Working with companies like Bioscientia is an important step in achieving PacBio’s mission to enable the promise of genomics to better human health.”

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Whole-genome sequencing using the Revio system enables the consolidation of multiple tests into a single, comprehensive solution, replacing the time-consuming and costly multi-stage vetting process for rare diseases and developmental delay disorders. Previously, separate experiments like chromosome analysis, optical genome mapping, and short-read exome sequencing were required. By leveraging Revio technology, researchers can now obtain vital data faster and more efficiently. This advancement helps to reduce costs, improve accessibility, and offer hope for families to better understand the genetic underpinning of certain rare diseases, potentially transforming the landscape of rare disease diagnosis and developmental delay assessment.

“Revio will enable us to answer questions we previously could not solve with just exome sequencing – helping us to tackle many unsolved or partially solved cases,” commented Professor Hanno Bolz, M.D., Head of Human Genetics at Bioscientia. “Purchasing these new Revio systems will significantly expand Bioscientia’s genomics capabilities. Results that previously required several tests can now be completed in a single run with Revio. Haplotype phasing is possible on an individual sample, and no longer requires familial segregation analysis. HiFi reads cover repetitive regions, genes with pseudogene backgrounds and allow for methylation analysis – so we can uncover imprinting defects. We believe this technology will benefit families by giving greater clarity in underlying causes of diseases and, ultimately, shortening the diagnostic odyssey they face.”

Bioscientia will also use Revio for extended testing of partially solved samples and recessive disease scenarios. These are situations where Bioscientia’s existing short-read exome sequencing technologies have not been able to provide more complete, definitive explanations. HiFi sequencing provides a highly accurate complete sequence of the genome, meaning that structural variations and even “hidden” gene mutations in complex and difficult-to-sequence regions are identified with greater confidence.

“Bioscientia has been a pioneer of innovation in complex diagnoses for more than 50 years, and we look forward to helping it advance its mission,” said Jeff Eidel, Chief Commercial Officer at PacBio. “PacBio’s sequencing technologies are among the most accurate and complete available today. Combined with advances in throughput and cost, we believe Revio will empower the Bioscientia team to further accelerate its field-leading research across many applications in genomics.”