monarch-initiative / pheval.exomiser

Exomiser plugin for PhEval.
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add acmg check for variant results #51

Closed yaseminbridges closed 5 months ago

yaseminbridges commented 10 months ago

Add an extra clause that the variant(s) must be classified as PATHOGENIC OR LIKELY PATHOGENIC.

This can be implemented in the standalone post-process command to filter out any variants that are not classed as PATHOGENIC OR LIKELY PATHOGENIC and then write to the pheval tsv results