GestaltMatcher

GestaltMatcher is a reference tool for geneticists supporting image search.

In the context of analysing human genetic data, the term next-generation phenotyping (NGP) is often used to refer to pattern recognition with advanced methods of computer vision such as deep convolutional neural networks. GestaltMatcher is a suite of algorithms that were trained to detect characteristic features in medical imaging data. GestaltMatcher can therefore be used by clinicians as a reference tool for assessing dysmorphism.

GestaltMatcher has been published in Nature Genetic (Hsieh et al.: GestaltMatcher facilitates rare disease matching using facial phenotype descriptors, Nature Genetics Vol 54, 349–357, 2022).

The GestaltMatcher App is an interface to the GestaltMatcher algorithms. It allows healthcare professionals to take a picture, upload the picture to the GestaltMatcher platform for analysis and get a list of syndromes whose characteristic facial features are similar to the uploaded image.

The app is free to use; however, due to legal restrictions on genetic counselling and because the interpretation of the results requires some training, we restrict the access to medical professionals that are registered and approved on the platform db.gestaltmatcher.org.