PacBio's Revio System Empowers Bioscientia to Scale Long-Read Whole Genome Sequencing

 Bioscientia Acquires Multiple Revio Sequencing Systems to Revolutionize Rare Disease Research by Sequencing Thousands of Long-Read Human Genomes Annually

PacBio, a leading developer of high-quality, highly accurate sequencing solutions, today announced that Bioscientia is using its Revio long-read sequencing systems 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."

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.

https://www.biospace.com/article/releases/pacbio-s-revio-system-empowers-bioscientia-to-scale-long-read-whole-genome-sequencing-and-unravel-the-mysteries-of-rare-disease/