Computer-Aided Facial Analysis and Non-Coding Variants Detectable by Exome Sequencing Increase Its Diagnostic Yield: Results From the DECIPHERD Study.
While exome sequencing (ES) reanalysis is recommended for patients undiagnosed after initial analysis, the combination of computer-aided facial phenotyping with targeted examination of non-coding variants remains underexplored. We aimed to identify the molecular etiology in undiagnosed cases from the DECIPHERD study (n...