Thirty-two genetic variants are unique in Indian sequences as compared to global genomes, a study by the Council for Scientific and Industrial Research (CSIR) has found. The Institute of Genomics and Integrative Biology (IGIB) and Centre for Cellular and Molecular Biology (CCMB) – both are CSIR laboratories – did an extensive computation analysis of the 1,029 sequenced genomes from India. The analysis led to the identification of 55,898,122 single nucleotide (an organic molecule that is the building block of DNA and RNA) variants in the India genome data set. “Comparisons with the global genome data sets revealed that 18,016,257 (32.23 per cent) variants were unique and found only in the samples sequenced from India,” the CSIR said. “This emphasises the need for an India-centric population genomic initiative,” it added. The result of this analysis was published in the scientific journal, Nucleic Acid Research, earlier this week. India is the second largest country in terms of population density with more than 1.3 billion individuals encompassing 17 per cent of the world population. Despite having this rich genetic diversity, India has been under-represented in global genome studies. Further, the population architecture of India has resulted in high prevalence of recessive alleles. In the absence of large-scale whole genome studies from India, these population-specific genetic variants are not adequately captured and catalogued in global medical literature, the CSIR said.
In order to fill the gap of whole genome sequences from different populations in India, the CSIR initiated the IndiGen Program in April 2019. Under this programme, the whole genome sequencing of 1,029 self-declared healthy Indians drawn from across the country has been completed. This has enabled benchmarking the scalability of genome sequencing at population scale in a defined timeline. The current IndiGenomes data resource provides a compendium of genetic variants representing the contemporary Indian population with an objective to classify variants involved in mendelian disorders and improve precision medicine outcomes.
The resource can also enable the identification of markers for carrier screening, variations causing genetic diseases, prevention of adverse events and provide better diagnosis and optimal therapy through mining data of clinically actionable pharmacogenetic variants. This resource can provide useful insights for clinicians and researchers in comprehending genetics not only at the population level but also at the individual level, the CSIR said.
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