Article

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

2021-04-05

Abstract excerpt

<h4>Background</h4> Lack of functional evidence hampers variant interpretation, leaving a large proportion of cases with a suspected Mendelian disorder without genetic diagnosis after genome or whole exome sequencing (WES). Research studies advocate to further sequence transcriptomes to directly and systematically probe gene expression defects. However, collection of additional biopsies, and establishment of lab w...

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Literature Corpus work: 2847f7e7-2cbb-51ba-8780-2deb6f5222c1
DOI: 10.1101/2021.04.01.21254633

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