The Variation Analysis Service can be used to identify and annotate sequence variations. The service enables users to upload one or multiple short read samples and compare them to a closely related reference genome. For each sample, the service computes the variations against the reference and presents a detailed list of SNPs, MNPs, insertions and deletions with confidence scores and effects such as “synonymous mutation” and “frameshift.” High confidence variations are downloadable in the standard VCF format augmented by SNP annotation. A summary table illustrating how the variations are shared across the samples is also available.

This module is a component of the BV-BRC build system. It is designed to fit into the dev_container infrastructure which manages development and production deployment of the components of the BV-BRC. More documentation is available here.

The code in this module provides the BV-BRC application service wrapper scripts for the Variation Analysis Service as well as some backend utilities:

• Variation Analysis Service
• Variation Analysis Service Tutorial

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