Genetic & Genomic MedicineThe American Journal of Human GeneticsPeer-reviewed
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…·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.
29 citations