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Genepi Innsbruck

This site summarizes our main software projects. The focus of our projects is on mitochondrial DNA (mtDNA), Genotype Imputation, genome wide association studies (GWAS) and general frameworks for big data analysis.

For a list of all projects click here or visit the website of our institute.


Project About Reference Publication
Haplogrep HaploGrep is a tool for mtDNA haplogroup classification.
Human Mutation 2010
Nucleic Acids Research 2016
Haplocheck Haplocheck detects in-sample contamination in mtDNA or WGS sequencing studies by analyzing the mitchondrial content.
Genome Research 2021
mutserve Mutserve is a variant caller for the mitochondrial genome to detect homoplasmic and heteroplasmic sites in sequence data.
Nucleic Acids Research 2016

Please contact Sebastian or Hansi in case of questions.


Project About Reference Publication
Michigan Imputation Server Michigan Imputation Server provides a free genotype imputation service using Minimac4.
Nature Genetics 2016
Imputationbot Automate interactions with Michigan Imputation Servers.  

Please contact Lukas or Sebastian in case of questions.


Project About Reference Publication
PGS Calculation Applying polygenic scores (PGS) on imputed genotypes.  
nf-gwas A nextflow pipeline to perform genome-wide association studies using regenie.  

Please contact Sebastian or Lukas in case of questions.


Project About Reference Publication
Cloudgene A framework to build Software As A Service (SaaS) platforms for data analysis pipelines. BMC Bioinformatics
Cloudflow Simplified pipeline creation for MapReduce and Spark. IEEE Conference 2015
genepi-libs This repository includes libraries which are used in many of our scientific projects.  

Please contact Lukas or Sebastian in case of questions.


Project About Reference Publication
NGS-Class Introduction to bioinformatic analysis of next (NGS) and 3rd generation sequencing data.  

Please contact Stefan or Sebastian in case of questions.

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