Additional file 1: Figure S1. of A 26-hour system of highly sensitive whole genome sequencing for emergency management of genetic diseases

Screen-shots demonstrating the functionality of SSAGA. A. The clinical feature entry page. Synonyms for each feature are entered in the top left box. Upon entry, a list of matching HPO terms is displayed. The appropriate HPO term is selected and added to the patient’s feature list in the box on the right. This is performed for each clinical feature. In this case, patient CMH672ref, the patient had 11 clinical features that included neonatal seizures and a characteristic facies. B. Upon clicking the ‘Get Diagnosis’ button, the list of all matching diseases is generated. In this case, the differential diagnosis had 1,136 rows, representing 597 genes, of which 222 matched two or more clinical features. (PDF 240 kb

La Petite presse : journal quotidien... / [rédacteur en chef : Balathier Bragelonne]

19 septembre 18791879/09/19 (A13,N4882)