Fig. 1: Genes involved in neurodevelopmental Mendelian disorders are expressed in B-lymphoblastoid cell lines (LCLs).
From: Diagnosing Cornelia de Lange syndrome and related neurodevelopmental disorders using RNA sequencing
(a) Total number and overlap of expressed transcripts in Genotype–Tissue Expression sequencing project (GTEx) LCL and blood samples meeting the expressed gene threshold of fragments per kilobase of transcript per million mapped reads (FPKM) >1 and mean coverage >10×. (b) Mean expression of neurodevelopmental Mendelian genes (NMGs) in LCL (n = 1706 genes) and blood (n = 917 genes). Data shown as mean ± SEM. (c) Correlation of isoform expression between GTEx LCL and brain. (d) Overlap of transcript isoforms that meet the expressed gene threshold in brain and LCL. (e) Histogram depicting number of OMIM phenotypic supersets (PS) with partial or complete gene coverage in LCLs from a total of 297 PS. (f) Charts depicting the number of LCL expressed NMGs (n = 1706) that have a documented disease–gene relationship in OMIM (dark blue) and the subsequent breakdown of these genes into OMIM PS (n = 1085) with complete (dark green) or partial representation (light green).
