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


PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, today announced the creation of the Consortium for Long Read Sequencing (CoLoRS) that 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 variation 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 the understanding of the genomic underpinnings of rare disease, where more than half of cases remain unexplained even after short-read genome sequencing.

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

“High quality long-read data can characterize genetic variation inaccessible to short-read sequencing“

The founding members of CoLoRS are leaders from highly respected research hospitals, universities, and laboratories from around the world. Pre-existing datasets provided by consortium members will comprise the initial set of genomes, which will be processed and cataloged using trusted and standardized analysis pipelines. The resulting data will be housed and accessible via National Human Genome Research Institute’s (NHGRI) Analysis, Visualization and Informatics Lab-space (AnVIL) which is a cloud-based genomic data sharing and analysis platform. CoLoRS has been awarded supporting funds by the National Institutes of Health Office of Data Science Strategy and NHGRI to help fund cloud-based variant calling and for utilization of the database for NHGRI-funded initiatives such as GREGoR and the All of Us Research Program.

“I’m excited to be a part of this consortium of experts in structural variation, genomics, and clinical research to create a database that will enable researchers to realize the full potential of long-read sequencing technology, benefitting their research and the collective understanding of human variation and disease. With this database we will finally be able to consider all types of variation across the entire human genome,” said Michael Schatz, Bloomberg Distinguished Professor at Johns Hopkins University.

Recent scientific publications, including those from researchers from the Telomere-to- Telomere consortium, 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 more structural variants and 300,000 more small variants, as well as providing significantly higher resolution of tandem repeat regions when compared to short-read sequencing. Structural variants, in particular, account for the majority the base-pair differences between individuals. The CoLoRS database is intended to help researchers by not only providing frequencies of such variants but to also assist future structural variant and tandem repeat genotyping initiatives.

The database is intended to be public, benefiting all researchers, and is expected to be populated with initial data in late 2022. To further expand the power of the database, investigators with raw or summary level HiFi human genome datasets are encouraged to reach out to participate.

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