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: MAJIQ-CAT enables clinicians and scientists to explore inadequate representation of splicing by clinically accessible tissues (CATs) in specific genes and tissues of interest.The alternative text for this image may have been generated using AI.

(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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