GestaltMatcher

GestaltMatcher is a next-generation phenotyping for analyzing patient's facial phenotype. On this page, you can analyze your patient's frontal image by GestaltMatcher. The user requires an activated key for uploading a photo. Please contact us via email (info@gestaltmatcher.org) to request the activated key. This service is operated by the Association for Genome Diagnostics (AGD), which is a registered non-for-profit organization in Germany, and the Institute for Genomic Statistics and Bioinformatics (IGSB) in University Hospital of Bonn.

The uploaded image will be deleted after the analysis. If you encounter any error, please get in touch with us. This service is not provided for serving the bulk analysis. Please contact us if you would like to connect the service to your diagnostic pipeline.




Publications

GestaltMatcher

Hsieh, TC., Bar-Haim, A., Moosa, S. et al. GestaltMatcher facilitates rare disease matching using facial phenotype descriptors. Nat Genet (2022). https://doi.org/10.1038/s41588-021-01010-x (PDF)

GestaltMatcher-Arc

Hustinx, A. et al. Improving deep facial phenotyping for ultra-rare disorder verification using model ensembles. IEEE/CVF Winter Conference on Applications of Computer Vision (WACV) (IEEE, 2023). https://10.1109/wacv56688.2023.00499 (PDF)