388-cellSTAAR: Boosting Rare Variant Association Testing
The paper introduces cellSTAAR, a novel statistical framework designed to improve the discovery of rare genetic variants within noncoding regions of the human genome. By integrating single-cell epigenetic data with whole-genome sequencing, the method identifies functional associations that are often masked in traditional bulk tissue studies. The tool specifically addresses the difficulty of linking candidate cis-regulatory elements to their target genes by utilizing an ensemble of diverse computational approaches. Applications of the model to large-scale datasets, such as the UK Biobank and…
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