Combined Bioinformatic and Splicing Analysis of Likely Benign Intronic and Synonymous Variants Reveals Evidence for Pathogenicity
Owen Hirschi, Stephanie A. Felker, Surya P. Rednam, Kelly Vallance, Donald Williams Parsons, Angshumoy Roy, Gregory M. Cooper, Sharon E. Plon
The paper evaluates the pathogenicity of intronic and synonymous variants using splicing prediction algorithms and in vitro assays, identifying potentially disease-causing variants previously classified as benign.
Genetics in Medicine Open · Jan 1, 2024Peer-reviewedGenetic & Genomic Medicine