diskin-lab-chop / AutoGVP

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Take original intervar call when PVS1=0 #178

Closed rjcorb closed 12 months ago

rjcorb commented 12 months ago

Purpose/implementation Section

What feature is being added or bug is being addressed?

Closes #177. This PR modifies annotate_variants_*_input.R so that, when calls are made with intervar and PVS1 == 0 / intervar_adjusted == "No", the original call from InterVar: InterVar and Evidence column of intervar file is taken as final_call

What was your approach?

see above

What GitHub issue does your pull request address?

177

Directions for reviewers. Tell potential reviewers what kind of feedback you are soliciting.

Which areas should receive a particularly close look?

@rebkau can you run this on the sample we've been looking at (BS_XM3ER1N6), and confirm that the discrepancies have been resolved?

Is there anything that you want to discuss further?

No