Additional file 15: of CellMapper: rapid and accurate inference of gene expression in difficult-to-isolate cell types
Year: 2016
Type: article
Abstract: Human disease genes are enriched in the top CellMapper predictions; companion figure to Fig. 4. Enrichment of genes linked to human genetic disorders (OMIM) or human GWAS phenotypes (NHGRI) in the top CellMapper predictions. (a, c) Overall enrichment of human disease genes within the top CellMapper predictions across all 30 cell types, as a function of the gene rank cutoff. (b, d) Enrichment of genes linked to an individual OMIM disorder or GWAS phenotype within the top 200 genes predicted for a given cell type. All cell type-disease enrichments that reached statistical significance are shown. In panel (d), a more permissive FDR cutoff of 0.2 was selected to favor sensitivity in identifying potentially informative disease-cell type associations. Note that at this cutoff, one in five associations are expected to occur by chance and any conclusions should be interpreted appropriately. Syn. syndrome, EKVP erythrokeratodermia variabilis et progressiva, ARVD arrhythmogenic right ventricular dysplasia, SED spondyloepiphyseal dysplasia, SCID severe combined immunodeficiency, FCAS familial cold autoinflammatory syndrome, CMT Charcot-Marie-Tooth disease, MADD multiple Acyl-CoA dehydrogenase deficiency. (PDF 176 kb)
Source: Figshare
Language: English
Subfield: Molecular Biology
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W7137901758