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TailEnrich enables discovery of dysregulated genes through disease sample enrichment testing
bioRxiv · · Preprint · Open access
Li, Liu + 4 more
Abstract ↗AI summary
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TailEnrich identifies subgroup-specific dysregulated genes in Alzheimer’s disease by testing extreme expression tails and scoring disease enrichment with a PE metric.
- Why it matters: In heterogeneous disorders like AD, pathogenic genes may be strongly dysregulated only in subsets, while mean-shift differential expression methods can miss these subgroup effects.
- What they did: TailEnrich independently tests the left (downregulated) and right (upregulated) tails of each gene’s expression distribution for disease sample enrichment, quantified by the PE (Percentage of Enriched disease samples) score.
- The result: In simulated data, it improves accuracy over DESeq2 and edgeR for subset-specific dysregulation, and in AD it finds biologically relevant pathway genes missed by mean shift approaches.
The findingWhy it mattersWhat they didThe result
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