(Table S8).
To benefit clinicians and researchers with this knowledge, we developed a compendium named ClinIndb which houses frequency data of clinically relevant variants in diverse Indian populations. Cohorts included in this study are closer representatives of IGVC populations than any world population even SAS group in 1000 genomes and GAsP. Therefore, frequency estimates from this study are anticipated to be more reliable. There were earlier efforts to create such catalogs however they have their own limitations. Indian genetic disease database (http://www.igdd.iicb.res.in/home.htm) houses data of 6647 mutations from 52 diseases in 5760 individuals (Pradhan et al., 2010). This data was collated from literature published during 1993-2010 as well as personal communications. These individual studies might suffer from biases. Importantly, data is collated from patients, therefore carrier frequency estimates cannot be computed. Frequency comparison with other global populations is absent. Moreover, there has been exponential growth of clinically relevant variants after the advent of next generation sequencing and in India, this growth is quite evident after 2010 and this database is not updated yet.
The data content of our study has direct implications for evolving rapid genetic diagnostics and in determining clinically actionable variants in patients with suspected genetic ailments.