Clinical-Genomics-Lund / nextflow_wgs

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Extract the SO/most_severe_consequence ranking from `modify_vcf_scout.pl` and keep in version control #160

Open alkc opened 8 months ago

alkc commented 8 months ago

See discussion here: https://github.com/Clinical-Genomics/scout/issues/4417#issuecomment-1943875398

This issue concerns the following ranking:

https://github.com/Clinical-Genomics-Lund/nextflow_wgs/blob/a7f1317301391710ae68310cf9a435c6a29bdf59/bin/modify_vcf_scout.pl#L30-L68

In the process of implementing issue #111 , move the SO ranking out of the dark depths of modify_scout_vcf.pl and banish it to the same (as of now hypothetical) repo as our rank models.

The ranking could then—like the rank models—be included as a path in the pipeline config (where it belongs) and passed to the modify_vcf_scout.pl script.

Keeping it as its own file makes it easier to version it, which I think is a worthwhile thing to do if we ever want to keep track of the reasons behind any deviations from the VEP ranking.