Article

RNA-sequencing first approach generates new diagnostic candidates in Mendelian disorders

2023-07-08

Abstract excerpt

<h4>Background</h4> RNA-sequencing is increasingly being used as a complementary tool to DNA sequencing in diagnostics where DNA analysis has been uninformative. RNA-sequencing allows us to identify alternative splicing and aberrant gene expression allowing for improved interpretation of variants of unknown significance (VUS). Additionally, RNA-sequencing provides the opportunity not only to look at the splicing e...

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Literature Corpus work: 04f23324-8588-50a7-a0b5-063b54f9ac56
DOI: 10.1101/2023.07.05.23292254

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