Frequency spectrum of rare and clinically relevant markers in
multi-ethnic Indian populations (ClinIndb): A resource for genomic
medicine in India
Abstract
Purpose:There have been concerted efforts towards cataloging rare and
deleterious variants in different world population using high throughput
genotyping and sequencing based methods. The Indian populations are
underrepresented or its information w.r.t. clinically relevant variants
are sparse in public datasets. The aim of this study was to estimate the
burden of monogenic disease causing variants in Indian populations.
Towards this, we have assessed the frequency profile of monogenic
phenotype associated ClinVar variants. Methods: The study utilized
genotype dataset (global-screening-array, Illumina) from 2795
individuals (multiple in-house genomics cohorts) representing diverse
ethnic and geographically distinct Indian populations. Results: Of the
analyzed variants from GSA, ~12% were found to be
informative and were either not known earlier or underrepresented in
public databases in terms of their frequencies. These variants were
linked to disorders, viz. Inborn-errors of Metabolism,
Monogenic-diabetes, hereditary cancers and various other hereditary
conditions. We have also shown that our study cohort is genetically
better representatives of Indian populations than its representation
in1000 genome project (South-Asians). Conclusion: We have created a
database, ClinIndb [(http://clinindb.igib.res.in) and
(https://databases.lovd.nl/shared/variants?search_owned_by_=%3D%22Mohamed%20Faruq%22)],
to help clinicians and researchers in diagnosis, counseling and
development of appropriate genetic screening tools relevant to the
Indian populations and Indians living abroad.