Abstract:Background:
The Clinical Genome Resource Consortium (ClinGen) recommends MaxEntScan (MES) model to predict the effects of
LDLR
splice variants. We developed “MaxSpliZer”, a software tool to automate the implementation of MES, and validated it using ClinVar and UK-Biobank (UKBB) data.
Method:
We tested concordance of MaxSpliZer predictions with ClinVar classifications of benign/likely benign (B/LB) and pathogenic/likely pathogenic… Show more
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