April 21, 2020  |  

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in MYBPC3.

Authors: Dainis, Alexandra and Tseng, Elizabeth and Clark, Tyson A and Hon, Ting and Wheeler, Matthew and Ashley, Euan

To date, clinical sequencing has focused on genomic DNA using targeted panels and exome sequencing. Sequencing of a large hypertrophic cardiomyopathy (HCM) cohort revealed that positive identification of a disease-associated variant was returned in only 32% of patients, with an additional 15% receiving inconclusive results. When genome sequencing fails to reveal causative variants, the transcriptome may provide additional diagnostic clarity. A recent study examining patients with genetically undiagnosed muscle disorders found that RNA sequencing, when used as a complement to exome and whole genome sequencing, had an overall diagnosis rate of 35%.

Journal: Circulation. Genomic and precision medicine
DOI: 10.1161/CIRCGEN.119.002464
Year: 2019

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