Article

Systematic evaluation of the two main blood-based RNA-seq approaches for Mendelian disease diagnosis

2023-04-26

Abstract excerpt

<h4>Background</h4> As an adjunct to diagnostic exome sequencing and whole-genome sequencing, RNA sequencing (RNA-seq) 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 wh...

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Literature Corpus work: 428e4335-2513-5633-a619-9ada8f9cf443
DOI: 10.1101/2023.04.22.23288779

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