Fig. 2: B-lymphoblastoid cell lines (LCL) RNA-seq identifies pathogenic variants and abnormal splicing in a validation cohort of Cornelia de Lange syndrome (CdLS) patients.
From: Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
(a) Schematic of sample processing and RNA-seq analysis performed on the validation cohort of patient LCLs. (b) Principal component analysis (PCA) comparing similarity in gene expression profiles between Genotype–Tissue Expression sequencing project (GTEx) blood, GTEx LCL, and CdLS-LCL. (c) Correlation between CdLS-LCL and GTEx brain (left panel) and CdLS-LCL and GTEx LCL (right panel) for all annotated transcript isoforms belonging to 1745 neurodevelopmental Mendelian genes (NMGs). (d–f) Representative images of RNA-seq reads capturing pathogenic SMC3 missense variant (d), NIPBL splice-site variant (e), and ANKRD11 frameshift variant (f). (g,h) Sashimi plots of abnormal splicing events causing premature termination of NIPBL, numbers indicate supporting exon junction reads.
