Abstract:The Clinical Genome Resource Consortium (ClinGen) recommends MaxEntScan
(MES) model to predict effects of LDLR splice variants. We
developed “MaxSpliZer”, a software tool to automate implementation of
MES and validated it using ClinVar and UK-Biobank (UKBB) data. We tested
concordance of MaxSpliZer predictions with ClinVar classifications of
benign/likely benign (B/LB) and pathogenic/likely pathogenic (P/LP) for
LDLR variants with potential effect on splicing. We also
annotated LDLR splice variants in 200,618 … Show more
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