Article

Machine Learning for Interpretation of DNA Variants of Maturity-Onset Diabetes of the Young Genes Based on ACMG Criteria

2020-05-23

Abstract excerpt

<h4>Background: </h4> Maturity-onset diabetes of the young (MODY) is a group of dominantly inherited monogenic diabetes, with HNF4A-MODY, GCK-MODY and HNF1A-MODY being the three most common genes responsible. Molecular diagnosis of MODY is important for precise treatment. While a DNA variant causing MODY can be assessed by the criteria of the American College of Medical Genetics and Genomics (ACMG) guidelines, gen...

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Literature Corpus work: ec04f20d-c028-504a-bded-890a20c336c1
DOI: 10.1101/2020.05.20.20108035

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