This workshop will focus on the core steps involved in calling variants with the Broad’s Genome Analysis Toolkit, using the “Best Practices” developed by the GATK team. You will learn why each step is essential to the variant discovery process, what are the operations performed on the data at each step, and how to use the GATK tools to get the most accurate and reliable results out of your dataset.

In the course of this workshop, we highlight key functionalities such as the germline GVCF workflow for joint variant discovery in cohorts, RNAseq­ specific processing, and somatic variant discovery using MuTect2. We also preview capabilities of the upcoming GATK version 4, including a new workflow for CNV discovery, and we demonstrate the use of pipelining tools to assemble and execute GATK workflows.

The workshop is composed of one day of lectures and two days of hands­on training, structured as follows. Day 1: theory and application of the Best Practices for Variant Discovery in high­throughput sequencing data. Day 2 and the morning of Day 3: hands­on exercises on how to manipulate the standard data formats involved in variant discovery and how to apply GATK tools appropriately to various use cases and data types. Day 3 afternoon: hands-on exercises on how to write workflow scripts using WDL, the Broad's new Workflow Description Language, and to execute these workflows locally as well as through a publicly accessible cloud-based service.

Please note that this workshop is focused on human data analysis. The majority of the materials presented does apply equally to non­human data, and we will address some questions regarding adaptations that are needed for analysis of non­-human data, but we will not go into much detail on those points.

Please note that if you are not eligible for a University of Cambridge Raven account you will need to Book or register Interest by linking here.''