How will Indian genetic mapping help?

• The GenomeIndia project, launched in January 2020, aimed to study the genomes of 10,000 healthy and unrelated Indians from 83 population groups.

• The study was funded by the Department of Biotechnology and involved blood samples and phenotype data from 20,000 individuals.

• DNA samples from 10,074 individuals were subjected to whole genome sequencing, but two populations were later excluded.

• The project was a collaborative effort of 20 institutions, with sequencing carried out by the Centre for Brain Research at IISc Bengaluru, the Centre for Cellular and Molecular Biology in Hyderabad, Institute of Genomics & Integrative Biology in Delhi, National Institute of Biomedical Genomics in Kolkata, and Gujarat Biotechnology Research Centre in Gandhinagar.

• The genomes of five tribes across India were sequenced, along with genomes of three non-tribes.

• In total, 180 million mutations were found from the individuals sequenced, with 130 million variations in the non-sex chromosomes and 50 million in the sex chromosomes X and Y.

• The study reveals that polymorphisms or variations in the non-coding regions of the human genome are likely to be present in the non-coding regions.

• The 130 million variations identified are expected to spur studies aiming to determine the possible roles of population-specific genetic mutations in various diseases.

• The data on variants associated with diseases will enable the development of affordable, genomic-based diagnostic tools, facilitating early detection, and prevention and management of diseases in India.