Genome Medicine | 2021

Finding associations in a heterogeneous setting: statistical test for aberration enrichment

 
 
 

Abstract


Most two-group statistical tests find broad patterns such as overall shifts in mean, median, or variance. These tests may not have enough power to detect effects in a small subset of samples, e.g., a drug that works well only on a few patients. We developed a novel statistical test targeting such effects relevant for clinical trials, biomarker discovery, feature selection, etc. We focused on finding meaningful associations in complex genetic diseases in gene expression, miRNA expression, and DNA methylation. Our test outperforms traditional statistical tests in simulated and experimental data and detects potentially disease-relevant genes with heterogeneous effects.

Volume 13
Pages None
DOI 10.1186/s13073-021-00864-4
Language English
Journal Genome Medicine

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