ArticleBioinformatics (Oxford, England)2022
STAAR workflow: a cloud-based workflow for scalable and reproducible rare variant analysis.
Article in Bioinformatics (Oxford, England), 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.
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Who cites it
6 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Assessment of the functionality and usability of open-source rare variant analysis pipelines.Briefings in bioinformatics · 2025Pooled it
- Whole genome sequencing based analysis of inflammation biomarkers in the Trans-Omics for Precision Medicine (TOPMed) consortium.Human molecular genetics · 2024Article
- SUMMIT-FA: a new resource for improved transcriptome imputation using functional annotations.Human molecular genetics · 2024Article
- TIVAN-indel: a computational framework for annotating and predicting non-coding regulatory small insertions and deletions.Bioinformatics (Oxford, England) · 2023Article
- FAVOR: functional annotation of variants online resource and annotator for variation across the human genome.Nucleic acids research · 2023Article
- IMMerge: merging imputation data at scale.Bioinformatics (Oxford, England) · 2023Article
Corrections and comments
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Authors and funding
8 authors.
Funding
Abstract
summaryWe 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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Registered trials
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