Other variant type homozygous scores

ClinGen / gene-and-variant-curation-tools

ClinGen's gene and variant curation interfaces (GCI & VCI). Developed by Stanford ClinGen team.

https://curation.clinicalgenome.org/

MIT License

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Other variant type homozygous scores #193

Closed wrightmw closed 1 year ago

wrightmw commented 2 years ago

Investigate other variant type homozygous scores. Mito GCEP have an example of a score that didn't double up from 1.5 to 3.

gcheung-SF commented 2 years ago

The total adjusted score is 1.5 because that's the max/upper limit for MOI = AR, Variant Type = "Other Variant Type". The max score is 1.5 no matter if the variant is de novo and functional data support. If this is not correct, please let me know and I can change it. Thanks.