/MitoCallPipeline

A pipeline for mitochondrial mutation calling

Primary LanguageHTML

Overview

The pipeline described here calls mitochondrial SNVs and small indels in hg38 WGS BAM files. Additional filtering is supplied in functions for R.

This pipeline is originally created by the GATK and modified by me. Addded haplogroup-based blacklisting.

Using the pipeline

A step-by-step tutorial is provided on a vignette here.

Getting help

Shoot me a message!