Article

MaxSpliZer: a Tool to Predict Effects of Splice Variants Based on the Maximum Entropy Model

2022-04-26

Abstract excerpt

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 pathogenicity of variants in LDLR and FBN1 with potential effect on sp...

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Literature Corpus work: f9ed9441-e48e-59c5-83eb-6451d3945c78
DOI: 10.22541/au.165095761.17308137/v2

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