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Updated: Sep 26, 2025
Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
Published on: June 23, 2012
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis
Sheila M Gaynor1, Kenneth E Westerman2,3,4, Lea L Ackovic5
1Department of Biostatistics, Harvard TH Chan School of Public Health, Boston, MA 02115, USA.
Summary:
We developed the variant-Set Test for Association using Annotation infoRmation (STAAR) workflow description language (WDL) workflow to facilitate the analysis of rare variants in whole genome sequencing association studies. The open-access STAAR workflow written in the WDL allows a user to perform rare variant testing for both gene-centric and genetic region approaches, enabling genome-wide, candidate and conditional analyses. It incorporates functional annotations into the workflow as introduced in the STAAR method in order to boost the rare variant analysis power. This tool was specifically developed and optimized to be implemented on cloud-based platforms such as BioData Catalyst Powered by Terra. It provides easy-to-use functionality for rare variant analysis that can be incorporated into an exhaustive whole genome sequencing analysis pipeline.
Availability And Implementation:
The workflow is freely available from https://dockstore.org/workflows/github.com/sheilagaynor/STAAR_workflow.
Supplementary Information:
Supplementary data are available at Bioinformatics online.
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