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. Author manuscript; available in PMC: 2021 Jan 1.
Published in final edited form as: Genet Med. 2020 Mar 30;22(7):1181–1190. doi: 10.1038/s41436-020-0780-y

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

Figure 1:

(a) Different 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.