Article

MRSD: a novel quantitative approach for assessing suitability of RNA-seq in the clinical investigation of mis-splicing in Mendelian disease

2021-03-20

Abstract excerpt

<h4>Background</h4> RNA-sequencing of patient biosamples is a promising approach to delineate the impact of genomic variants on splicing, but variable gene expression between tissues complicates selection of appropriate tissues. Relative expression level is often used as a metric to predict RNA-sequencing utility. Here, we describe a gene- and tissue-specific metric to inform the feasibility of RNA-sequencing, ove...

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Literature Corpus work: 3cf7e30f-81a1-52eb-852e-4718c9b54349
DOI: 10.1101/2021.03.19.21253973

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