Mapping RNA splicing variations in clinically accessible and nonaccessible tissues to facilitate Mendelian disease diagnosis using RNA-seq
Joseph K. Aicher, Paul Jewell, Jorge Vaquero-Garcia, Yoseph Barash, Elizabeth Bhoj
Topics & Concepts
RNA splicingCATSRNA-SeqGeneBiologyRNATranscriptomeIntronComputational biologyGeneticsAlternative splicingGene expressionExonMedicineInternal medicineGenomics and Rare DiseasesSingle-cell and spatial transcriptomicsMolecular Biology Techniques and Applications