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, 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.