Kyle Moad

Results 43 comments of Kyle Moad

I've tested PyVCF3 against a number of VCFs from different sources. Haven't seen any regressions. Next oc release replaces pyvcf with PyVCF3.

For a multi-allelic vcf, the `num_unique_var` key in the status response is the number of variants that oc finds. The `num_input_var` key is not reliable for files that can contain...

Well look into this and get back to you. Thanks a lot for the detail here.

This will be in the next release.

Probably a good idea to use `os.sched_getaffinity` on linux systems. We'll look into adding that for the next release.

It looks like the GWAS catalog data is old. We'll update it.

We do plan to update to v4. It's more complicated than a typical annotator because the size of gnomad4 does not work with our model of distributing annotator data to...

We are currently updating the mapper to use genocode release 43. We are also exploring adding refseq annotation, but can't give a projected release date at this time.

Currently this database is too large to include in OpenCRAVAT. We are working on ways to either better compress annotator data, or support fast querying of external resources. Genebass does...

This is fixed for single-sample vcfs here https://github.com/KarchinLab/open-cravat/issues/149