PacBio’s Revio System Enables Bioscientia to Scale Long-Read Whole Genome Sequencing and Unravel Mysteries of Rare Diseases – PacBio

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

MENLO PARK, Calif., June 28, 2023 /PRNewswire/ —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 the Sonic Healthcare Group, Bioscientia is a leading global provider of diagnostic clinical laboratory testing services headquartered in Germany. The increased accuracy, read length and methylation information offered by the Revio system will allow Bioscientia to explore some single-gene disorders, such as deafness, blindness and developmental delay, and to study the underlying causes of rare diseases.

(PRNewsfoto/Pacific Biosciences of California, Inc.)

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

Whole genome sequencing using the Revio system allows you to consolidate multiple tests into one comprehensive solution, replacing the time-consuming and expensive multi-step evaluation process for rare diseases and developmental delay disorders. Previously, separate experiments such as chromosome analysis, optical genome mapping, and short-read exome sequencing were required. Leveraging Revio technology, researchers can now obtain vital data faster and more efficiently. This advance helps reduce costs, improve affordability and offer families hope of better understanding the genetic basis of some rare diseases, potentially transforming the landscape of rare disease diagnosis and developmental delay assessment.

“Revio will allow us to answer questions that previously we could not solve with exome sequencing alone, helping us to address many unsolved or partially resolved cases,” commented Professor Have Bolz, MD, head of human genetics at Bioscientia. “The purchase of 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 a single sample and no longer requires family segregation analysis.HiFi reads cover repetitive regions, genes with pseudogenic backgrounds, and allow for methylation analysis so that imprinting defects can be uncovered.We believe this technology will benefit families by providing greater clarity on the underlying causes of diseases and ultimately shortening the diagnostic odyssey they face.”

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

“Bioscientia has pioneered innovation in complex diagnoses for more than 50 years and we look forward to helping them advance their mission,” said Jeff Edel, Chief Commercial Officer of PacBio. “PacBio’s sequencing technologies are some of the most accurate and comprehensive available today. Combined with advances in productivity and cost, we believe Revio will enable the Bioscientia team to further accelerate its leading field research into many applications of genomics “.

About PacBio
PacBio (NASDAQ: PACB) is a leading life science technology company that designs, develops and manufactures advanced sequencing solutions to help scientists and clinical researchers solve genetically complex problems. Our products and technology under development are derived from two highly differentiated core technologies focused on accuracy, quality and completeness that include our existing HiFi long-read sequencing and our emerging SBB short-read sequencing technologies. Our products address solutions for a broad range of research applications, including human germline sequencing, plant and animal sciences, infectious disease and microbiology, oncology, and other emerging applications. For more information, visit and follow @PacBio.

PacBio products are provided for research use only. Not for use in diagnostic procedures.

Forward-Looking Statements
This press release contains “forward-looking statements” within the meaning of Section 21E of the Securities Exchange Act of 1934, as amended, and the United States Private Securities Litigation Reform Act of 1995. All statements other than statements of historical fact are forward-looking statements, including statements regarding the availability, uses, accuracy, coverage, benefits, quality or performance of, or benefits or expected benefits from the use of PacBio products or technologies; Bioscientia’s use of PacBio’s long-read sequencing technology to sequence several thousand genomes annually, explore select single-gene disorders, provide more information to families, and reduce the amount of testing, cost, and time to obtain rare disease-related genomic responses for families; and other forward-looking statements. Readers are cautioned not to place undue reliance on these forward-looking statements, and such forward-looking statements are qualified in their entirety by reference to the following cautionary statements. All forward-looking statements speak only as of the date of this press release and are based on current expectations and involve a number of assumptions, risks and uncertainties that could cause actual results to differ materially from such forward-looking statements, including inherent development challenges , production, launch, marketing and sale of new products; potential product performance and quality issues; rapidly evolving technologies and extensive competition in genomic sequencing; and third-party claims that it infringes any patent or proprietary rights or seeks to invalidate PacBio’s patents or proprietary rights. Readers are strongly encouraged to read the full cautionary statements contained in PacBio’s filings with the Securities and Exchange Commission, including the risks disclosed in PacBio’s Forms 8-K, 10-K, and 10-Q. PacBio disclaims any obligation to update or revise any forward-looking statements.


Lizelda Lopez

Todd Friedmann

SOURCE Pacific Biosciences by CaliforniaInc.

#PacBios #Revio #System #Enables #Bioscientia #Scale #LongRead #Genome #Sequencing #Unravel #Mysteries #Rare #Diseases #PacBio
Image Source :

Leave a Comment