[genome-announce] CoLoRSdb small and structure variants for hg38 and hs1

[Jairo Navarro Gonzalez]

Hello everyone,

We are excited to announce the release of the CoLoRSdb Small and Structural Variant tracks for the human assemblies GRCh38/hg38 and CHM13/hs1. These tracks provide a comprehensive catalog of genetic variation discovered through long-read whole genome sequencing, contributed by the international Consortium of Long Read Sequencing (CoLoRS). The small variant tracks (DeepVariant + GLnexus) contain single nucleotide polymorphisms (SNPs) and short indels, while the structural variant tracks (pbsv + Jasmine) display larger events including insertions, deletions, and inversions. Long-read sequencing technology improves sensitivity in repetitive regions and provides more precise breakpoint resolution than short-read approaches, enabling accurate visualization of complex loci in the Genome Browser.

Each track includes allele frequency and sample count annotations, with additional filtering options for variant size and type. Users can click on individual variants to view detailed metadata, such as allele counts, homozygous/heterozygous call distributions, and Hardy-Weinberg equilibrium values.

Genome Browser screenshot of the CoLoRSdb tracks with the mouseover tooltip on the DEL-159bp item.

We would like to thank Mike Schatz, Evan Eichler, and all CoLoRSdb investigators for generating and making the data publicly available. We would also like to thank Karen Wang and Jairo Navarro Gonzalez for creating and releasing these tracks.