Article

Targeted Long-Read RNA Sequencing Demonstrates Transcriptional Diversity Driven by Splice-Site Variation in <i>MYBPC3</i>

2019-01-17

Abstract excerpt

<h4>ABSTRACT</h4> <h4>Background</h4> Clinical sequencing has traditionally focused on genomic DNA through the use of targeted panels and exome sequencing, rather than investigating the potential transcriptomic consequences of disease-associated variants. RNA sequencing has recently been shown to be an effective additional tool for identifying disease-causing variants. We here use targeted long-read genome and t...

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Literature Corpus work: 287de6af-98ae-5ac8-b2ce-711a0e3dcd38
DOI: 10.1101/522698

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