elimuinformatics/vcf2fhir

mitochondrial DNA homoplasmic vs. heteroplasmic assignment

rhdolin opened this issue · 0 comments

Current software is hard-coded to assign homoplasmic vs. heteroplasmic based on: If allelic depth (FORMAT.AD) / read depth (FORMAT.DP) is greater than 99% then allelic state is homoplasmic; else heteroplasmic.

Change the '99%' to a configurable parameter.