populationgenomics / automated-interpretation-pipeline

Rare Disease variant prioritisation MVP
MIT License
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new in prev. 12 months #217

Closed MattWellie closed 1 year ago

MattWellie commented 1 year ago

Fixes

Proposed Changes

Notes

Querying now for the Mendeliome now vs. 12 months ago only results in 7 new genes

Comparison with now vs. the pre-panelapp mendeliome - 681 new genes

Not a like-for-like comparison, just leaving that as a note

Checklist

MattWellie commented 1 year ago

Test run ongoing https://batch.hail.populationgenomics.org.au/batches/420857

MattWellie commented 1 year ago

Fixes a bug with the prior match-case statement where "monoallelic, autosomal..." wouldn't match to "monoallelic" because of the comma. Now includes a complete punctuation strip prior to the split