Article

GestaltMatcher: Overcoming the limits of rare disease matching using facial phenotypic descriptors

2021-02-24

Abstract excerpt

<title>Abstract</title> <p>The majority of monogenic disorders cause craniofacial abnormalities with characteristic facial morphology. These disorders can be diagnosed more efficiently with the support of computer-aided next-generation phenotyping tools, such as DeepGestalt. These tools have learned to associate facial phenotypes with the underlying syndrome through training on thousands of patient photographs. H...

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Literature Corpus work: 35165df5-aef7-56be-befa-d4e0658fea82
DOI: 10.21203/rs.3.rs-138785/v1

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