The workshop will use Galaxy (usegalaxy.org), an open source web-based platform for informatics data analysis; we will briefly introduce Galaxy and familiarise users with its workings. Galaxy will then be used to create an analysis pipeline for variant calling in a human disorder. We will then use a publicly available data set to explore and work with the data from raw reads through to variant annotation – this will include: QC, trimming, mapping, variant calling, variant annotation and what this means. The user will learn how to map the raw reads to reference sequences and identify SNPs, and how to manipulate the output files. Finally, an open source software will be used to visualise the data.