Article

A 3D Clinical Face Phenotype Space of Genetic Syndromes using a Triplet-Based Singular Geometric Autoencoder

2022-12-27

Abstract excerpt

Clinical diagnosis of syndromes benefits strongly from objective facial phenotyping. This study introduces a novel approach to enhance clinical diagnosis through the development and exploration of a low-dimensional metric space referred to as the clinical face phenotypic space (CFPS). As a facial matching tool for clinical genetics, such CFPS can enhance clinical diagnosis. It helps to interpret facial dysmorphism...

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Literature Corpus work: 05e911f6-3ca4-5a00-8316-1c540b1efe58
DOI: 10.1101/2022.12.27.521999

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