Article

Predicting the impact of rare variants on RNA splicing in CAGI6

2023-06-22

Abstract excerpt

<h4>Background</h4> Variants which disrupt splicing are a frequent cause of rare disease that have been under-ascertained clinically. Accurate and efficient methods to predict a variant’s impact on splicing are needed to interpret the growing number of variants of unknown significance (VUS) identified by exome and genome sequencing. Here we present the results of the CAGI6 Splicing VUS challenge, which invited pr...

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Literature Corpus work: 17e841c2-918c-5542-8c74-3251f6b0d9b1
DOI: 10.1101/2023.06.20.545093

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