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Variant Detection - Introductory tutorial

QFAB
Andrew Lonie (Managed by)
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CC-BY http://creativecommons.org.au/learn-more/licences

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This tutorial covers the concepts of detecting small variants (SNVs and indels) in human genomic DNA using a small set of reads from chromosome 22. The tutorial is designed to introduce the tools, datatypes and workflow of variation detection. The variations are filtered manually to understand what is actually happening in variant calling. In practice the datasets would be much larger and more sophisticated tools would be used to detect and call variants, based on statistical models of variant representation in a pool of reads. Please note that this is not a workflow but a tutorial to introduce the concepts of variant detection and the use of the GVL Galaxy.

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  • Local : www.qfab.org/GVL/workflow-5