Article

Genome-wide detection of human variants that disrupt intronic branchpoints

2022-04-18

Abstract excerpt

<h4>ABSTRACT</h4> Pre-mRNA splicing is initiated with the recognition of a single-nucleotide intronic branchpoint (BP) within a BP motif by spliceosome elements. Fifty-six rare variants in 44 human genes have been reported to alter splicing and cause disease by disrupting BP. However, until now, no computational approach has been available to efficiently detect such variants in next-generation sequencing (NGS) da...

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Literature Corpus work: 2c97acdd-941e-5712-a6e8-d34e9274fe8b
DOI: 10.1101/2022.04.18.488668

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