Heidi Beate Bentzen

GestaltMatcher improves diagnosis of ultra-rare genetic disorders by matching facial phenotypes to molecular diagnoses using a deep learning model trained on a large dataset of patient photographs.

The paper models how population expansion affects recessive disorder prevalence and mutation load, showing that random mating leads to a temporary decrease in disease incidence but increased mutation load.

The paper introduces an AI-driven method that uses facial images to prioritize exome data, achieving 99% top-10 accuracy in identifying disease-causing genes.