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Scientists have developed a novel framework that captures cellular response heterogeneity to boost discovery of genetic regulators in immune cells. The approach outperforms traditional methods in identifying context-dependent genetic effects relevant to autoimmune diseases and infections. Researchers demonstrated its utility across multiple pathogen stimulations using single-cell data from hundreds of donors.

Enhanced Detection of Genetic Regulators in Cellular Responses

Researchers have developed a new analytical framework that significantly improves the detection of genetic variants that influence gene expression in response to cellular perturbations, according to a recent study published in Nature Genetics. The approach models expression quantitative trait loci (eQTLs) using a continuous perturbation score rather than binary states, reportedly increasing statistical power to identify response eQTLs (reQTLs) that change under experimental conditions.