Article

ParSE-seq: A Calibrated Multiplexed Assay to Facilitate the Clinical Classification of Putative Splice-altering Variants

2023-09-08

Abstract excerpt

<h4>Background</h4> Interpreting the clinical significance of putative splice-altering variants outside 2-base pair canonical splice sites remains difficult without functional studies. <h4>Methods</h4> We developed Parallel Splice Effect Sequencing (ParSE-seq), a multiplexed minigene-based assay, to test variant effects on RNA splicing quantified by high-throughput sequencing. We studied variants in SCN5A, an arrh...

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Literature Corpus work: 87062009-0cfa-5cca-9303-567bffecb9bb
DOI: 10.1101/2023.09.04.23295019

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