Article
MRSD: A quantitative approach for assessing suitability of RNA-seq in the investigation of mis-splicing in Mendelian disease.
American journal of human genetics - 3 Feb 2022
Rowlands Charlie F, Taylor Algy, Rice Gillian, Whiffin Nicola, Hall Hildegard Nikki, Newman William G, Black Graeme C M, O'Keefe Raymond T, Hubbard Simon, Douglas Andrew G L, Baralle Diana, Briggs Tracy A, Ellingford Jamie M
Abstract excerpt
Variable levels of gene expression between tissues complicates the use of RNA sequencing of patient biosamples to delineate the impact of genomic variants. Here, we describe a gene- and tissue-specific metric to inform the feasibility of RNA sequencing. This overcomes limitations of using expression values alone as a metric to predict RNA-sequencing utility. We have derived a metric, minimum required sequencing...
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