Article

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

2021-01-04

Abstract excerpt

A large fraction of monogenic disorders causes 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. However, this “supervise...

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Literature Corpus work: c8b3eeaf-29ed-59d3-a468-ee835eae4225
DOI: 10.1101/2020.12.28.20248193

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