populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP

MIT License

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Added AlphaMissense Cat6 class #327

Closed MattWellie closed 6 months ago

MattWellie commented 6 months ago

Fixes

AlphaMissense scores aren't recognised as a category

Proposed Changes

Adds categoryboolean6 - binary classification based on AM's default thresholds
Should be compatible with MTs where vep.transcript_consequences.am_class is absent
Test added for am_class classification & missing AM scores
Correction to Project label in metadata
AM scores added to drop-down drawer (unless it's missing)

Checklist

[ ] Related Issue created
[ ] Tests covering new change
[x] Linting checks pass