760-Mapping Gene Cascades from Regulators to Traits
This research paper details a novel computational approach that integrates loss-of-function (LoF) genetic data with single-cell Perturb-seq experiments to map the biological pathways connecting genes to human traits. By combining quantitative trait associations from the UK Biobank with causal gene-regulatory networks in K562 cells, the authors built causal graphs that explain how genes influence complex phenotypes like mean corpuscular hemoglobin (MCH). Their model demonstrates that many genetic signals act indirectly through trans-regulation, affecting "core" biological programs such as…
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