Article

Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity

2023-10-31

Abstract excerpt

<h4>Background</h4> Current clinical variant analysis pipelines focus on coding variants and intronic variants within 10-20 bases of an exon-intron boundary that may affect splicing. The impact of newer splicing prediction algorithms combined with in vitro splicing assays on rare variants currently considered Benign/Likely Benign (B/LB) is unknown. <h4>Methods</h4> Exome sequencing data from 576 pediatric cancer p...

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Literature Corpus work: c0eadf65-c26a-5eb7-ba00-06e80ba65382
DOI: 10.1101/2023.10.30.23297632

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