Study subjects/samples details
We have analyzed the frequencies of ClinVar reported pathogenic and likely pathogenic variants from genome-wide genotyping data (Global screening array, Illumina inc.) of 3132 Indian subjects who were part of four different in-house GWAS based cohort studies. The subjects included in these cohorts represent diverse ethnic and geographic background of India. These cohorts were – 1.) TRISUTRA Ayurgenomics cohorts (n= 958), 2.) CARDIOMED cohort (n= 1449), 3.) HAP (Hypoxia adaptation and pregnancy outcome) study cohort (n=438 ) and 4.) GOMED study cohort (n=287).
Since, this study aimed at curation and frequency analysis of Mendelian and mongenic phenotype associated variants in Indian populations from ongoing genomics based cohort studies (in-house) for various non-mendelian or polygenic or other related physiological conditions. The genotype datasets from following cohorts were analyzed: i) TRISUTRA Ayurgenomics cohorts included individuals from Indo-European (IE) and Dravidian (DR) linguistic lineages from IE-North (CBPACS), DR-South (KLE), IE –West (IPGTRA) and IE-East (JBR) for genetic study of various health and related other non-mendelian morbid conditions. There was near equal representation of both genders and the age group of the subjects were from 19-40 years (Prasher et al., 2017). ii) CARDIOMED cohort included 1449 subjects recruited for case control based GWAS study for coronary artery disease and it comprised897healthy individuals and 552patients of coronary artery disease (Table-S1 for cohort details). iii) The HAPS study included subjects from high altitude Tibeto -Burman lineage (TB) from Leh and Indo-European IE lineage from North Indian regions (AIIMS, Delhi). iv) GOMED study: to understand the utility of high throughput genotyping chip in clinical setting, 287 subjects referred from clinicians for genetic investigations of various hereditary disorders were included. Data about gender, age and disease status of samples included in Cardiomed and GOMED cohort is provided in Table S1 .