Fig. 4: MAJIQ-CAT enables clinicians and scientists to explore inadequate representation of splicing by clinically accessible tissues (CATs) in specific genes and tissues of interest. | Genetics in Medicine

Fig. 4: MAJIQ-CAT enables clinicians and scientists to explore inadequate representation of splicing by clinically accessible tissues (CATs) in specific genes and tissues of interest.

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

Fig. 4

(a) MAJIQ-CAT allows users to choose from predefined or custom gene sets and tissues (left) to quantify and understand the user-specific relevant limitations of RNA-seq in different accessible tissues (right). (b) Users can further explore individual genes for tissue-specific differences in gene expression and splicing. Shown here is a closer look at the gene MEF2C, with a violin plot of its expression in CATs and selected non-CATs (left) and violin plots of percent splicing inclusion (PSI) for one of its inadequately represented splicing events (right). See main text for more details.

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