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PacBio Collaborates with Leading Researchers to Establish Long-Read Variant Frequency Consortium
The Consortium Will Build a Publicly Available Database as a Resource to Accelerate Insights from Long-Read Human Genome Datasets MENLO PARK, Calif., Oct. 18,
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"The Consortium Will Build a Publicly Available Database as a Resource to Accelerate Insights from Long-Read Human Genome Datasets\nMENLO PARK, Calif., Oct. 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 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. \n\n \n \n \n \n \n \n\n \n\"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.\"\nThe 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 su...