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PacBio and International Research Consortium CoLoRS Announce Release of First-Ever HiFi Long-Read Variant Database
Consortium Delivers Publicly Available Datasets that Enrich Detection of Rare and Novel Genetic Variants for Advances in Human Disease Research MENLO PARK,
About this update from Pacific Biosciences Of California, Inc.
[{"type":"text","content":"Consortium Delivers Publicly Available Datasets that Enrich Detection of Rare and Novel Genetic Variants for Advances in Human Disease Research\nMENLO PARK, Calif., June 10, 2024 /PRNewswire/ -- PacBio (NASDAQ: PACB), a leading developer of high-quality, highly accurate sequencing solutions, in collaboration with the international Consortium for Long-Read Sequencing (CoLoRS), today announced the launch of the first publicly available and free HiFi long-read variant frequency database with global representation. This innovative resource fills a critical void for rare disease researchers, providing access to genetic variants that are not detectable through short-read sequencing methods. By enabling the filtering of common structural variants from long-read sequencing data, this database allows for the identification of rare and novel variants in rare disease cases. The launch of this database better enables researchers to utilize long-read genomic data to advance human health research.\n\n \n \n \n \n \n \n\n \n\"Joining forces with PacBio has enabled us to leverage their HiFi sequencing capabilities, enhancing the depth and accuracy of the genomic data we can offer to the research community,\" said Michael Schatz, Bloomberg Distinguished Professor at Johns Hopkins University. \"This effort complements existing databases such as gnomAD, as long reads enable much greater sensitivity and precision for complex variants (SVs) and tandem repeats. The CoLoRS database is a tremendous step forward in our collective effort to understand complex genetic variations and their implications in disease.\"\nStudies have shown that long-read sequencing finds 15,000 more structural variants (SVs) and 300,000 more small variants than short reads. SVs are crucial as they account for much of the genetic diversity between humans and are associated with disease pathogenesis. The CoLoRS database integrates data from nearly 1,000 long-read genomes, providing detailed insights into human variation and improving the detection of complex variants and tandem repeats. This resource is developed by a global coalition from top clinical and academic institutions, pooling diverse long-read genome data from various research projects.\n\"We are thrilled to see the launch of the CoLoRS database, a pivotal development in genomics research,\" said Christian Henry, Pres...