ClinIndb was developed with the aim to build a repository/catalog that contains frequency profiles
of clinically relevant variants in multi-ethnic Indian population.
This study utilized a high throughput and affordable genomics tool that provides information
of more than 19K variants global clinical annotated variants using Global Screening Array (GSA) from Illumina.
Why this is informative :
- Baseline frequencies for pathogenic variants (belonging to different disease classes) were estimated from large sample size of 2795 Individuals.
- More representative samples (and thus variants) of SouthEast Asian (SAS) ancestry in comparison with other global repositories.
- Cohorts in this study are genetically much more diverse than representative South Asian populations in 1000 genome dataset.