Variant Analysis

Genetic differences (variants) between healthy and diseased tissue, between individuals of a population, or between strains of an organism can provide mechanistic insight into disease processes and the natural function of affected genes. The tutorials in this section show how to detect evidence for genetic variants in next-generation sequencing data, a process termed variant calling. Of equal importance, they also demonstrate how you can interpret, for a range of different organisms, the resulting sets of variants by predicting their molecular effects on genes and proteins, by annotating previously observed variants with published knowledge, and by trying to link phenotypes of the sequenced samples to their variant genotypes.


Before diving into this topic, we recommend you to have a look at:


Lesson Slides Hands-on Input dataset Workflows Galaxy tour
Introduction to Variant analysis
Calling variants in diploid systems
Calling variants in non-diploid systems
Exome sequencing data analysis for diagnosing a genetic disease
From NCBI's Sequence Read Archive (SRA) to Galaxy: SARS-CoV-2 variant analysis
Identification of somatic and germline variants from tumor and normal sample pairs
M. tuberculosis Variant Analysis
Mapping and molecular identification of phenotype-causing mutations
Microbial Variant Calling
Mutation calling, viral genome reconstruction and lineage/clade assignment from SARS-CoV-2 sequencing data

Galaxy instances

You can use a public Galaxy instance which has been tested for the availability of the used tools. They are listed along with the tutorials above.

You can also use the following Docker image for these tutorials:

docker run -p 8080:80

NOTE: Use the -d flag at the end of the command if you want to automatically download all the data-libraries into the container.

It will launch a flavored Galaxy instance available on http://localhost:8080. This instance will contain all the tools and workflows to follow the tutorials in this topic. Login as admin with password password to access everything.

Frequently Asked Questions

Common questions regarding this topic have been collected on a dedicated FAQ page . Common questions related to specific tutorials can be accessed from the tutorials themselves.


This material is maintained by:

AvatarBérénice Batut AvatarWolfgang Maier AvatarBjörn Grüning AvatarAnton Nekrutenko

For any question related to this topic and the content, you can contact them or visit our Gitter channel.


This material was contributed to by:

AvatarBérénice Batut AvatarYvan Le Bras AvatarAnton Nekrutenko AvatarNicola Soranzo AvatarAlex Ostrovsky AvatarWolfgang Maier AvatarTorsten Houwaart AvatarAnika Erxleben AvatarBjörn Grüning AvatarMarius van den Beek AvatarDave Clements AvatarDaniel Blankenberg AvatarPeter van Heusden AvatarSimon Gladman AvatarThoba Lose AvatarAnna Syme AvatarTorsten Seemann