(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.