How do I analyze mtDNA variants?

To run mtDNA variant analysis on emedgene, you need to upload:

a. FASTQ files, or

b. VCF file(s) created with DRAGEN / mity / MuTect / CNVkit using the rCRS mtDNA genome reference or a full genome reference that includes rCRS (e.g., hs37d5).

In case of an end-to-end analysis starting from FASTQ files, mtDNA SNV/indel variants will be mapped to rCRS and called by DRAGEN with improved variant quality calculation.

Note: the pipeline version required is 5.26+.