Darwin Mitodetect

Detection and annotation of mitochondrial DNA variants including heteroplasmy from WGS or mtDNA-enriched sequencing Steps: Step 1: FastQC; Step 2: Alignment (BWA-MEM2); Step 3: mtDNA Read Extraction; Step 4: mtDNA Variant Calling (GATK Mutect2); Step 5: Heteroplasmy and MITOMAP Annotation; Step 6: MitoDetect Report. Verticals: rare_disease, clinical_genomics.

Use in DarwinOmics

How to use it

Use this workflow element when the submitted analysis needs a multi-step execution path, imported workflow, Darwinomics wrapper, or workflow-scale comparison rather than a single module.