The pm151 regions are used to filter spurious variant calls in centromeres, long repeats, and other genomic regions where short-read mapping is often problematic. They cover 88.2% of hg38, 92.2% of coding regions, and 96.3% of ClinVar pathogenic variants. The track can be used to filter variant calls for clinical or research human samples. It shows regions that are easy to sequence, rather than those that are problematic. The data was derived from the HPRC assemblies, and this track presents the 151b-easy panmask set.
We would like to thank the -HLi lab +Heng Li's group 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 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