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Article

Computational facial analysis for rare Mendelian disorders.

American journal of medical genetics. Part C, Seminars in medical genetics - 1 Sept 2023

Hsieh Tzung-Chien, Krawitz Peter M

Abstract excerpt

With the advances in computer vision, computational facial analysis has become a powerful and effective tool for diagnosing rare disorders. This technology, also called next-generation phenotyping (NGP), has progressed significantly over the last decade. This review paper will introduce three key NGP approaches. In 2014, Ferry et al. first presented Clinical Face Phenotype Space (CFPS) trained on eight syndromes....

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PMID: 37584245
DOI: 10.1002/ajmg.c.32061

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