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.
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).
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 is a reference tool for geneticists supporting image search.
GestaltMatcher can therefore be used by clinicians as a reference tool for assessing dysmorphism.
The GestaltMatcher App is an interface to the GestaltMatcher algorithms.