Article

Leveraging next-generation phenotyping for ACMG classification from VUS to likely pathogenic in Mowat-Wilson syndrome

2025-02-16

Abstract excerpt

<h4>Background</h4> Next-generation phenotyping (NGP) tools, such as GestaltMatcher, have revolutionized the diagnosis of rare genetic disorders through computational facial analysis. While NGP has been widely integrated into differential diagnosis workflows, its application in variant reclassification within the ACMG framework remains underexplored. <h4>Methods</h4> We applied GestaltMatcher to a pediatrics patie...

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Literature Corpus work: 92865952-7cb5-5977-a26d-2725d1a4ab27
DOI: 10.1101/2025.02.12.25321927

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