Litcius/Paper detail

GestaltMatcher facilitates rare disease matching using facial phenotype descriptors

Tzung‐Chien Hsieh, Aviram Bar-Haim, Shahida Moosa, Nadja Ehmke, Karen W. Gripp, Jean Tori Pantel, Magdalena Danyel, Martin A. Mensah, Denise Horn, Stanislav Rosnev, Nicole Fleischer, Guilherme Bonini, Alexander Hustinx, Alexander Schmid, Alexej Knaus, Behnam Javanmardi, Hannah Klinkhammer, Hellen Lesmann, Sugirthan Sivalingam, Tom Kamphans, Wolfgang Meiswinkel, Frédéric Ebstein, Elke Krüger, Sébastien Küry, Stéphane Bezieau, Axel Schmidt, Sophia Peters, Hartmut Engels, Elisabeth Mangold, Martina Kreiß, Kirsten Cremer, Claudia Perne, Regina C. Betz, Tim Bender, Kathrin Grundmann‐Hauser, Tobias B. Haack, Matias Wagner, Theresa Brunet, Heidi Beate Bentzen, Luisa Averdunk, Kimberly Christine Coetzer, Gholson J. Lyon, Malte Spielmann, Christian P. Schaaf, Stefan Mundlos, Markus M. Nöthen, Peter Krawitz

2022Nature Genetics210 citationsDOIOpen Access PDF

Topics & Concepts

PhenotypeConvolutional neural networkMedical diagnosisArtificial intelligenceSet (abstract data type)Clinical phenotypePattern recognition (psychology)DiseaseRare diseaseBiologySimilarity (geometry)Computational biologyComputer scienceBioinformaticsGeneticsPathologyMedicineGeneImage (mathematics)Programming languageGenomics and Rare DiseasesGenomic variations and chromosomal abnormalitiesRNA regulation and disease