Article
GestaltMatcher facilitates rare disease matching using facial phenotype descriptors.
Nature genetics - 1 Mar 2022
Hsieh Tzung-Chien, Bar-Haim Aviram, Moosa Shahida, Ehmke Nadja, Gripp Karen W, Pantel Jean Tori, Danyel Magdalena, Mensah Martin Atta, Horn Denise, Rosnev Stanislav, Fleischer Nicole, Bonini Guilherme, Hustinx Alexander, Schmid Alexander, Knaus Alexej, Javanmardi Behnam, Klinkhammer Hannah, Lesmann Hellen, Sivalingam Sugirthan, Kamphans Tom, Meiswinkel Wolfgang, Ebstein Frédéric, Krüger Elke, Küry Sébastien, Bézieau Stéphane, Schmidt Axel, Peters Sophia, Engels Hartmut, Mangold Elisabeth, Kreiß Martina, Cremer Kirsten, Perne Claudia, Betz Regina C, Bender Tim, Grundmann-Hauser Kathrin, Haack Tobias B, Wagner Matias, Brunet Theresa, Bentzen Heidi Beate, Averdunk Luisa, Coetzer Kimberly Christine, Lyon Gholson J, Spielmann Malte, Schaaf Christian P, Mundlos Stefan, Nöthen Markus M, Krawitz Peter M
Abstract excerpt
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. To improve recognition of...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.