Variant Detection Introductory Tutorial

This tutorial runs on the GVL Galaxy Tutorial Server, a public Galaxy server specifically for learning bioinformatics analysis.

In this tutorial we cover the concepts of detecting small variants (SNVs and indels) in human genomic DNA using a small set of reads from chromosome 22.

Needed Tools

This tutorial runs on the GVL Galaxy Tutorial Server. All needed tools are on the server.


The workshop is based on analysis of short read data from the exome of chromosome 22 of a single human individual. There are one million 76bp reads in the dataset, produced on an Illumina GAIIx from exome-enriched DNA. This data was generated as part of the 1000 Genomes project:

Needed datasets exist in Shared Libraries on the server, and are also available via URL.