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Investigates variant interpretation in Mowat-Wilson Syndrome using advanced phenotyping tools, suggesting clinical utility.
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.
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Hsieh et al. (2026) studied this question.
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