Fig. 4: Validation of hits normalizing multiple nuclear envelope phenotypes in NGPS cells.
From: A multiparametric anti-aging CRISPR screen uncovers a role for BAF in protein synthesis regulation
A–B Biological processes gene set enrichment was carried out using the clusterProfiler R package. P values were calculated through clusterProfiling using a hypergeometric distribution which corresponds to a one-sided version of Fisher’s exact test. No corrections for multiple comparisons were applied. The 43 validated genes were tested against a full homo sapiens ontology database. C Representative immunofluorescence images obtained in the validation screen, showing the effects of some of the hits on the nuclear envelope phenotypes. D Heatmap showing the overlap between identified target genes and human genetic datasets. For all four phenotypic traits (BMI (n = 806,834), WHR (n = 694,649), triglycerides (n = 1,253,275) and eBMD, (n = 426,824)), target genes were annotated on the basis of (i) proximity to GWAS signals, (ii) coding-variant gene-level associations to the trait (MAGMA), (iii) colocalization between the GWAS and eQTL data and (iv) the presence of known enhancers within the association peaks. A count of the observed concordant predictors (out of a maximum of 16) is displayed in Summary (right panel). Expanded results can be found in Supplementary Data 8.
