Detecting rare-variant associations in the noncoding genome is challenging. We present a scalable, flexible and streamlined rare-variant association analysis framework for biobank-scale whole-genome sequencing data, including gene-centric and non-gene-centric analyses by incorporating multiple variant functional annotations using various coding and noncoding units, conditional analysis, result summary and visualization.
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References
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This is a summary of: Li, Z. et al. A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies. Nat. Methods https://doi.org/10.1038/s41592-022-01640-x (2022)
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STAARpipeline: an all-in-one rare-variant tool for biobank-scale whole-genome sequencing data. Nat Methods 19, 1532–1533 (2022). https://doi.org/10.1038/s41592-022-01641-w
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DOI: https://doi.org/10.1038/s41592-022-01641-w
