Fig. 2: Mapping transcriptome variations identified in clinically accessible tissues (CATs) vs. non-CATs. | Genetics in Medicine

Fig. 2: Mapping transcriptome variations identified in clinically accessible tissues (CATs) vs. non-CATs.

From: Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq

Fig. 2

(a) Of an average of 9966 genes with consistently spliced events per non-CAT, 3925 (40.2%) were inadequately represented in at least one CAT, with 609 (6.3%) being inadequately represented by all CATs. (b) The percentages of genes with consistently spliced events that were inadequately represented over the 53 non-CATs were lowest in fibroblasts and highest in whole blood. (c) The percentage of junctions/retained introns that were consistently used in at least one non-CAT that were inadequately represented by each CAT was lowest in fibroblasts and highest in whole blood. EBV Epstein–Barr virus.

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