Clinical Utility
GSA based genetic investigations of patients samples which were referred for various clinical diagnosis of rare genetic diseases under GOMED cohort, yielded us a very low positivity rate for known clinical markers on GSA chip. In total for only 9 of 287 (3%) patients’ samples we could arrive at the diagnosis (Table-S12 ). This could be due to low representation of clinical variants for the referred clinical diagnosis and or low abundance of Indian specific mutations on GSA chip. For clinical genetic application, GSA could have further application for common pathogenic variants identified from our overall cohort (Table-2 )