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

Joseph K AicherPaul JewellJorge Vaquero-GarciaYoseph BarashElizabeth Joyce Bhoj

Published in: Genetics in medicine : official journal of the American College of Medical Genetics (2020)

Many splicing events in non-CATs are inadequately evaluated using RNA-seq from CATs. MAJIQ-CAT allows users to explore which accessible tissues, if any, best represent splicing in genes and tissues of interest.

Keyphrases

rna seq
single cell
gene expression
high resolution
genome wide
dna methylation
transcription factor
genome wide identification
bioinformatics analysis