MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease
Charlie F Rowlands, Algy Taylor, Gillian Rice, Nicola Whiffin, Hildegard Nikki Hall, William G. Newman, Graeme Charles M. Black, kConFab Investigators, Raymond T. O’Keefe, Simon J. Hubbard, Andrew G.L. Douglas, Diana Baralle, Tracy Ann Briggs, Jamie M. Ellingford
The paper introduces MRSD, a metric to determine optimal RNA-seq depth and tissue for assessing splicing variants in Mendelian diseases, showing LCLs are best for most gene panels.
The American Journal of Human Genetics · Jan 21, 2022Peer-reviewedGenetic & Genomic Medicine