New long-read population reference

[gevro]

Hi,
A new 1000- individual population long-read reference was just released for PacBio
https://www.pacb.com/press_releases/pacbio-and-international-research-consortium-colors-announce-release-of-first-ever-hifi-long-read-variant-database/

It is here:
https://zenodo.org/records/11511513

Specifically this file: CoLoRSdb.GRCh38.v1.0.0.pbsv.jasmine.vcf.gz

Are you able to add it to AnnotSV?

Thanks!

[lgmgeo]

Hi @gevro,

Thank you for this interesting suggestion.
I keep this in mind for a futur release with updated annotations (not in a near future).

Best,
Véronique

NOTE for me:
4 gzipped VCFs, two each for reference genomes GRCh38 and CHM13.

• The deepvariant.glnexus VCF for each reference contains SNPs, insertions, and deletions called with DeepVariant and merged with GLnexus/bcftools.
• The pbsv.jasmine VCF for each reference contains insertions, deletions, and inversions (inversions are symbolic with ALT represented as ) called with pbsv and merged with Jasmine.