We would like to thank the HLi lab at Harvard Medical School for making this data available. We would also like to thank Max Haeussler and Gerardo Perez for their efforts on this release.
We are excited to announce the release of the CoLoRSdb Small and Structural Variant tracks for the human assemblies -GRCh38/hg38 and -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.