The aim of the PEDIA study is to investigate the value of computer-assisted analysis of medical images and clinical features in the diagnostic workup of patients with rare genetic disorders. For this purpose, the phenotypic similarities of a patient to all known monogenic disorders (OMIM) are first quantified using next-generation phenotyping (NGP) approaches. The resulting similarity scores are then combined with deleteriousness scores from the molecular level to prioritize potential disease genes.
The performance of the approach is evaluated by assessing the diagnostic yield that can be accomplished by working through this list. For the current cohort the disease-causing gene is listed at the first position in 9 of 10 cases (top-1-accuracy rate of 91%). If you are interested in joining the study or using the software for your analysis, please contact us!