An article published in GenomeBiology presents scGWAS: a powerful tool for exploring the genetic basis of complex diseases at the cell type level using single-cell expression data.
We performed a series of enrichment analyses to evaluate the module genes identified by scGWAS. To this end, we downloaded genes with pLI annotations based on the ExAC dataset, ClinVar dataset in which genes were annotated with pathogenic or likely pathogenic variants, and OMIM genes.
We also showed the results for module genes identified by using only GWAS data .Cross-panel validation of the trait and cell-type associations. Brain_DER20_N, Brain_DER20_A, and Brain_DER20_M are short for the neuron, astrocytes, and microglia cell types in the DER20 panel. Brain_DER20_E and Brain_DER20_I refer to the excitatory and inhibitory neurons in the DER20 panel.
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