Abstract
Summary We developed the STAAR WDL workflow to facilitate the analysis of rare variants in whole genome sequencing association studies. The open-access STAAR workflow written in the workflow description language (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.
Competing Interest Statement
AAP is a Venture Partner at GV, and makes investments in life sciences and data sciences companies. He has also received funding from Intel, Microsoft, Alphabet, IBM, Rakuten, Bayer, and Novartis.
