populationgenomics / production-pipelines

Genomics workflows for CPG using Hail Batch
MIT License
2 stars 0 forks source link

Clinvarbitration workflow #808

Closed MattWellie closed 2 days ago

MattWellie commented 5 days ago

Complete replacement of the ClinVar re-summary process here in the AIP repo. This separates everything out into:

Run here: https://batch.hail.populationgenomics.org.au/batches/457281

This is stacked on #806 which just adds a super simplified VEP annotation - VCF in, VCF out, minimal annotation, no plugins. For this process we need some VEP annotation and the version we have is overkill (and very slow)

The aim eventually will be to get this on a crontab'd analysis-runner submission so this is run once a month in a hands-off way (same as it was here)