mtDNA-Server 2 is based on Nextflow and accurately detects heteroplasmic and homoplasmic variants in mitochondrial genomes. It supports different variant callers and is able to call insertions, deletions and single nucleotide variants at once. Furthmore it includes (a) quality control and input validation modules, (b) haplogroup classification and contamination detected, (c) a method to estimate the individual required coverage to minimize false positives and (d) an interactive analytics dashboard.
mtDNA-Server 2 is hosted as a service on our mitoverse platform.
Documentation can be accessed here.
- Docker or Singularity
- Java
- Nextflow
nextflow run genepi/mtdna-server-2 -r v2.1.6 -profile test,docker
Weissensteiner H*, Forer L*, Fuchsberger C, Schöpf B, Kloss-Brandstätter A, Specht G, Kronenberg F, Schönherr S: mtDNA-Server: next-generation sequencing data analysis of human mitochondrial DNA in the cloud. Nucleic Acids Res. 44:W64-9, 2016. PMID: 27084948
This software was developed at the Institute of Genetic Epidemiology, Medical University of Innsbruck
MIT Licensed.