Systematic Minigene-Based Splicing Analysis and Tentative Clinical Classification of 52 CHEK2 Splice-Site Variants.

Lara Sanoguera-MirallesAlberto Valenzuela-PalomoElena Bueno-MartínezAda Esteban-SánchezVíctor LorcaInés Llinares-BurguetAlicia García-ÁlvarezPedro Pérez-SeguraMar InfanteDouglas F EastonPeter DevileeMaaike P G VreeswijkMiguel de la HoyaEladio A Velasco

Published in: Clinical chemistry (2023)

Incorporation of minigene read-outs into an ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular Pathology)-based classification scheme allowed us to classify 32 CHEK2 variants (27 pathogenic/likely pathogenic and 5 likely benign). However, 20 variants (38%) remained of uncertain significance, reflecting in part the complex splicing patterns of this gene.

Keyphrases

copy number
machine learning
deep learning
genome wide
single molecule
single cell
dna methylation
gene expression
visible light