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 .