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RNA sequencing uplifts diagnostic rate in undiagnosed rare disease patients
2023-07-08
genetic and genomic medicine
Title + abstract only
View on medRxiv
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BackgroundRNA-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 effects of known VUSs but also to scan the transcriptome for abnormal splicing events and expr...
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