Year: 2022
Type: article
Abstract: 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.
Source: Bioinformatics
Language: English
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
Awards: Statistical Methods to Integrate Rich Functional and Phenotypic Data in Whole Genome Sequencing Analyses, NHLBI Data Stage Coordinating Center, Powering whole genome sequence-based genetic discovery for common human diseases, Statistical Methods for Integrative Analysis of Large-Scale Multi-Ethnic Whole Genome Sequencing Studies and Biobanks of Common Diseases, Statistical Methods for Analysis of Massive Genetic and Genomic Data in Cancer Research
OpenAlex ID: W4226335891