32 pc genetic variants unique in Indian genome sequences: Study

32 pc genetic variants unique in Indian genome sequences: Study

NEW DELHI [Maha Media]: 32 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 Indiacentric 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 Programme 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. 

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