Figure legends:
Figure-1 : Work flow the study and details of Genotyping, data
processing and quality controls and screen shot ClinIndb databse.
Figure 2: Diversity and relatedness of Indian populations with
respect to 1000 genomes SAS and EAS super populations. Majority of the
IE and DR large populations are covered by SAS group. EAS group is
distinct from TB populations of India. Isolated AA and DR populations
not covered by any of the 1000 genomes populations. Keys outside the
main figure represent different populations: Circles - IGV populations,
plus sign - SAS and EAS super populations from 1000 genomes.
Figure 3: Sufficient coverage of IE and DR large populations as
well as TB cluster (by highlanders) by our cohorts in this study with
the exception of isolated groups. Keys outside the main figure represent
different populations: Filled circles - Cohorts in this study, Unfilled
circles - IGV populations, plus sign -1000 genomes SAS and EAS super
populations.
Figure-4: Spectrum of Pathogenic Variants in Clindb and other
genomic databases (SAS Populations) A) Number of variants containing
either “pathogenic” or “likely pathogenic” term were compared across
different SAS populations in global databases. gnomAD_SAS is
representative of both gnomAD and ExAc SAS groups. B) Absolute average
frequency differences of Clindb and GAsP (SAS) were compared with 1000G,
ExAc and gnoMAD SAS groups