Article

Genetic diagnosis of Mendelian disorders via RNA sequencing

2016-07-29

Abstract excerpt

Across a large variety of Mendelian disorders, ~50-75% of patients do not receive a genetic diagnosis by whole exome sequencing indicative of underlying disease-causing variants in non-coding regions. In contrast, whole genome sequencing facilitates the discovery of all genetic variants, but their sizeable number, coupled with a poor understanding of the non-coding genome, makes their prioritization challenging. H...

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Literature Corpus work: 7249e485-7e6e-5f19-966f-6722d555a2e9
DOI: 10.1101/066738

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