populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP

MIT License

5 stars 4 forks source link

Metamist api transformation #307

Closed MattWellie closed 10 months ago

MattWellie commented 11 months ago

Fixes

Updates to use GQL
Contains a fix for the Peddy.UNKNOWN problem currently holding up ag-cardiac

Proposed Changes

Includes sequencingGroup changes
These gql changes are (almost) all in the helper scripts, run to prepare a workflow rather than during
Changes have been tested locally, looks functional
Pedigree member sexes are explicitly written down to 'unknown' if they are neither male or female
ag-cardiac added to the standard runtime config, with Adult Cardiac SuperPanel

Checklist

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