Figure 5: Characterization of diagnoses and variants causing aberrant splicing.
From: Genetic diagnosis of Mendelian disorders via RNA sequencing
(a) Detection strategy and validation of genes with RNA defects in newly diagnosed patients, that is, TIMMDC1 (n=2 patients), CLPP, ALDH18A1 and MCOLN1, and one patient with a strong candidate, that is, MGST1. The median number (±median absolute deviation) of candidate genes is given per detection strategies. Dotted check: identified by manual inspection (not statistically significant). (b) Schematic representation of variant causing splicing defects for TIMMDC1 (top, new exon red box), CLPP (middle, exon skipping and truncation) and MCOLN1 (bottom, intron retention). Variants are depicted by a red star.
