Fig. 1: Identification of splicing events inadequately represented by clinically accessible tissues (CATs). | Genetics in Medicine

Fig. 1: Identification of splicing events inadequately represented by clinically accessible tissues (CATs).

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

Fig. 1

(a) Different precursor mRNA (pre-mRNA) splicing decisions can have significant, potentially pathogenic, functional consequences. (b) Splicing events in inaccessible tissues (non-CATs) can only be adequately represented by accessible tissues as a proxy if the gene is both expressed and similarly spliced. (c) We used MAJIQ on RNA-seq samples from 56 different tissues to define and identify inadequately represented splicing events between inaccessible and accessible tissues.

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