Hello experts,
Inexperienced biochemist here. My clinical centre will be establishing itself as a WGS facility. We currently do not have any actual data.
We are planning on sending clinically acute care samples for sequencing on an Illumina NovaSeq6000. Alignment and calling will be performed by Dragen and annotation and curation via Alissa 5.3.
I'm wondering if anyone can provide guidance on how I could go about creating fake BAM and VCF files for mutations in the mitochondrial genome (both SNVs and CNVs)?
I would like to do some coverage experiments to see what the minimum coverage required for accurate variant calling would be. I would also like to mimic varying concentrations of heteroplasmy to determine the limit of detection.
Thank you for any and all help!
