PacBio Collaborates with Leading Researchers to Establish Long-Read Variable Frequency Consortium

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The consortium will create a publicly accessible database as a resource to accelerate insights from long-read human genome datasets

MENLO PARK, Calif., October 18, 2022 /PRNewswire/ — PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the creation of the Consortium for Long Rread Ssequencing (CoLoRS) which aims to accelerate the utility of long-read human genome datasets. CoLoRS is an open coalition of international researchers focused on creating a comprehensive database of frequency information for all classes of human variations identified using long-read human whole genome sequencing. High-quality long-read data can characterize genetic variation inaccessible to short-read sequencing. As such, CoLoRS plans to critically complement existing databases, help improve the discovery of pathogenic variation, and advance understanding of the genomic underpinnings of rare diseases, where more than half of cases remain. unexplained even after short-read genome sequencing.

“PacBio is proud to partner with these innovative researchers to build this much-needed resource for the genomics research community,” said Edd Lee, Marketing Director of Human Genomics Segment at PacBio. “Population frequency is a key tool for interpreting genetic variation. CoLoRS will extend this tool to variation only detected by HiFi sequencing, in particular structural variants, tandem repeats and small variants in regions of the genome that are difficult to sequence using other technologies. “

The founding members of CoLoRS are leaders of highly respected research hospitals, universities and laboratories around the world. Pre-existing datasets provided by consortium members will include the initial set of genomes, which will be processed and cataloged using reliable and standardized analysis pipelines. The resulting data will be hosted and accessed through the National Human Genome Research Institute (NHGRI) Analysis, Visualization and Computing Laboratory (AnVIL) space, which is a sharing and cloud-based genomic data analysis. CoLoRS has received support funds from the National Institutes of Health Office of Data Science Strategy and NHGRI to help fund cloud-based variant calls and for use of the database for NHGRI-funded initiatives such that GREGoR and the All of us Research program.

“I am delighted to be part of this consortium of experts in structural variation, genomics and clinical research to create a database that will allow researchers to realize the full potential of long-read sequencing technology, for the benefit of their research and the collective understanding of human variation and disease. With this database, we will finally be able to account for all types of variation across the entire human genome,” said Michael SchatzBloomberg Professor Emeritus at Johns Hopkins University.

Recent scientific publications, including those from Telomere-to-Telomer consortium researchers, have demonstrated that long-read sequencing can provide unique insights for disease and genome research by covering regions of the genome inaccessible to other technologies. Long-read whole genome sequencing can detect up to 15,000 additional structural variants and 300,000 additional small variants, while providing significantly higher resolution of tandem repeat regions compared to short-read sequencing. Structural variants, in particular, explain the majority of base pair differences between individuals. The CoLoRS database is intended to assist researchers not only by providing the frequencies of these variants, but also by assisting future structural variant and tandem repeat genotyping initiatives.

The database is intended to be public, for the benefit of all researchers, and is expected to be populated with initial data in late 2022. To further extend the power of the database, researchers with datasets raw or summary on the HiFi human genome are encouraged to contact participate.

For more information, please visit: www.ColorsDb.org.

About PacBio
Pacific Biosciences CaliforniaInc. (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 technologies under development stem from two highly differentiated core technologies focused on precision, quality and completeness, which include our Hifi stereo long-read sequencing and our emergence SBB™ short-read sequencing technologies. Our products address solutions across a wide range of research applications, including humans germ line sequencing, plant and animal sciences, infectious diseases and microbiology, oncology and other emerging applications. For more information, please visit www.pacb.com and follow @PacBio.

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

Forward-looking statements
This press release may contain “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, including statements relating to the availability, uses, accuracy, benefits, quality or performance of, or the benefits or anticipated benefits from the use, PacBio products or technologies, including in connection with Colors and its efforts to build a database of long-read variant frequencies; the potential of long-read sequencing technology to identify structural and small variants; the growing prevalence of the use of long-read sequencing in certain areas of research, the means by which data will be provided, processed, cataloged and made available to researchers and the public, the related importance of the filtering capabilities of frequency and expected database capacity to aid in the cataloging and interpretation of long-read sequencing data, and other forward-looking statements. Readers are cautioned not to place undue reliance on these forward-looking statements and these 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. of these forward-looking statements. Readers are strongly encouraged to read all of the cautionary statements contained in PacBio’s filings with the Securities and Exchange Commission, including the risks set forth in PacBio’s Forms 8-K, 10-K and 10-Q. PacBio disclaims any obligation to update or revise any forward-looking statements.

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Media:
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SOURCE Pacific Biosciences CaliforniaInc.

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