Welcome to MAJIQ-CAT. MAJIQ-CAT is an online resource for exploring RNA splicing in clinically-accessible tissues (CATs) vs other tissues of interest using RNA-seq from GTEx and ArrayExpress. This resource was originally motivated by the promise of RNA-seq as a diagnostic tool for detecting pathogenic changes in RNA splicing that are missed by DNA sequencing. In this setting, RNA-seq is typically performed on CATs (i.e. from blood and skin), but the tissue-specificity of RNA splicing means that changes present in disease-relevant but inaccessible tissues (non-CATs) may not be detectable in the measured CATs. This resource enables interactive analysis of specific genes and tissues of interest, allowing users to explore which accessible tissues, if any, best represent splicing in genes and tissues of interest.
These analyses follow the original genome-wide analysis in our companion paper Aicher et. al., 2020, Genetics in Medicine , which can be cited as:
Aicher JK, Jewell P, Vaquero-Garcia J, Barash Y, Bhoj EJ. Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq. Genet Med. 2020;22(7):1181-1190. doi:10.1038/s41436-020-0780-y