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 )