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PEDIA scoring approach

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flowcat color

FlowCat - Diagnosing leukemia with AI. Representation of flow cytometry data as seen by artificial intelligence. Each marker is coded in a different color. 


GPI anchor

GPI biosynthesis defects

a rare monogenic disorder



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software kick-off meeting


Welcome to the IGSB

Welcome to the Institute for Genomic Statistics and Bioinformatics. We are convinced that precision medicine can only be achieved when human and artificial intelligence join efforts. Please have a look at our research and get in contact if you have any questions or would like to collaborate!

Feb 10, 2022

Researchers at the University of Bonn use artificial intelligence to detect rare diseases even more accurately

Rare genetic diseases can sometimes be recognized through facial features, such as characteristically shaped brows, nose or cheeks. Researchers at the University of Bonn have now trained software that uses portrait photos to better diagnose such diseases. The improved version "GestaltMatcher" can now also detect diseases that are not yet known to it. It also manages to diagnose known diseases with very small numbers of patients. The study has now been published in the journal "Nature Genetics".

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