Tandem repeat population frequency / constraint annotation

[gevro]

Hi,
I saw your PacBio's recent preprint: https://www.biorxiv.org/content/10.1101/2025.01.06.631535v1

Will the pipeline be updated to annotate population frequency and/or constraint for tandem repeats? This would be super helpful for interpretation, which is otherwise currently nearly impossible without that.

Thanks

[williamrowell]

There are plans to release tooling in 2025 to identify expanded alleles for known pathogenic expansion loci and identify outliers for other polymorphic STRs.

[gevro]

Will you be able to also program annotation of population distribution of STRs also for pbsv and deepvariant calls? Because pbsv and deepvariant also call STR variants.