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Consider both, ALT allele depth and REF allele depth and use the major allele for Homoplasmic vs Heteroplasmic.
We consider only ALT allele depth for Homoplasmic vs Heteroplasmic
The text was updated successfully, but these errors were encountered:
Example:
Scenario where reference allele is the minor allele: Reference allele: A --> 1 Alternative allele: T --> 99
REF allele depth -> 1/100 = 0.01 ALT allele depth-> 99/100 = 0.99
If >0.99 then Homoplasmy; Here it would be Homoplasmy
Scenario where alternative allele is the minor allele: Reference allele: A --> 99 Alternative allele: T --> 1
REF allele depth -> 99/100 --> 0.99 ALT allele depth-> 1/100 = 0.01
If >0.99 then Homoplasmy; Here it would be Heteroplasmy
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Prerequisites
Expected Behavior
Consider both, ALT allele depth and REF allele depth and use the major allele for Homoplasmic vs Heteroplasmic.
Current Behavior
We consider only ALT allele depth for Homoplasmic vs Heteroplasmic
The text was updated successfully, but these errors were encountered: