PacBio in collaboration with the international Consortium for Long-Read Sequencing (CoLoRS), 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. Studies 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 genes, 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. Researchers are invited to access the CoLoRS database and explore its capabilities at .

Supported by PacBio's HiFi sequencing technology, this platform provides researchers with new insights into human genomic variation, accelerating advancements in critical areas of medical research.