Fig. 1
Prioritization of exome data by image analysis (PEDIA): cohort and classification approach. (a) Clinical features, facial photograph, and pathogenic variant of one individual of the PEDIA cohort. In total the cohort consists of 679 cases with monogenic disorders that are suitable for a diagnostic workup by exome sequencing. (b) Clinical features, images, and exome variants were evaluated separately and integrated to a single score by a machine learning approach. The disease-causing gene is shown at the top of the list.
