Abstract:Background: As an adjunct to diagnostic exome sequencing and whole genome sequencing, RNA sequencing (RNAseq) has been demonstrated to improve diagnostic yield for Mendelian diseases. However, systematic evaluation of the associated experimental and computational processes and the establishment of robust and efficient practices for RNA diagnostics implemented in the clinic to analyse readily accessible whole blood samples are still required. Methods: We simulated clinical conditions in which each patients samp… Show more
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