Article

Detection of pathogenic splicing events from RNA-sequencing data using dasper

2021-03-30

Abstract excerpt

Although next-generation sequencing technologies have accelerated the discovery of novel gene-to-disease associations, many patients with suspected Mendelian diseases still leave the clinic without a genetic diagnosis. An estimated one third of these patients will have disorders caused by mutations impacting splicing. RNA-sequencing has been shown to be a promising diagnostic tool, however few methods have been de...

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Literature Corpus work: 8cb8ce3b-fffe-5748-9605-4f9f83664c69
DOI: 10.1101/2021.03.29.437534

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