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Aviram Bar-Haim on Muck Rack

Aviram Bar-Haim

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Articles

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors - Nature Genetics

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By Tzung-Chien Hsieh, Shahida Moosa, Jean Tori Pantel, Behnam Javanmardi, Hannah Klinkhammer, Elke Krüger, Stéphane Bézieau, Axel Schmidt, Regina C. Betz, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Kimberly Christine Coetzer, Gholson J. Lyon, Markus M Nöthen, Aviram Bar-Haim, Stanislav Rosnev, Hellen Lesmann, Sugirthan Sivalingam, Sébastien Küry
| Nature Verified
Abstract Many monogenic disorders cause a characteristic facial morphology. Artificial intelligence can support physicians in recognizing these patterns by associating facial phenotypes with the underlying syndrome through training on thousands of patient photographs. However, this ‘supervised’ approach means that diagnoses are only possible if the disorder was part of the training set.
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