Preliminary findings of the GenomeIndia challenge, which genotyped 10,074 wholesome and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — throughout India, had been printed in the journal Nature Genetics on Tuesday (April 8, 2025). Blood samples had been collected from about 20,000 individuals, of which DNA samples from 10,074 individuals had been subjected to complete genome sequencing.
About 100 samples had been collected from every inhabitants with a median of 159 samples from every non-tribal group and 75 samples from every tribal group to estimate the comparatively uncommon variants which can be essential to know complicated illnesses.
After excluding two populations, the preliminary findings are based mostly on the genetic info of 9,772 individuals — 4,696 male individuals and 5,076 feminine individuals. The genome sequence knowledge are deposited in the Indian Biological Data Centre (IBDC) housed in Regional Centre for Biotechnology, in Faridabad, Haryana.
The genomes of Tibeto-Burman tribe, Indo-European tribe, Dravidian tribe, Austro-Asiatic tribe, and continentally admixed outgroup had been sequenced. In the case of non-tribes, the genomes of Tibeto-Burman non-tribe, Indo-European non-tribe, and Dravidian non-tribe had been sequenced.
180 million genetic variants
In all, 180 million genetic variants had been found when the genomes of 9,772 individuals had been sequenced. Of the 180 million, 130 million variants are found in the non-sex chromosomes (22 pairs of autosomes) and 50 million variants are in the intercourse chromosomes X and Y. Some of the variants are related to illnesses; some others are uncommon whereas some variants are distinctive to India; and a few others are distinctive to specific communities or small populations.
“We are now trying to find out the implications of these variants,” stated Dr. Kumarasamy Thangaraj of the Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, and one of many corresponding authors of the Comment piece. “We are looking for variants which are functionally relevant — related to diseases, those associated with therapeutic responses or no responses, and those that are causing adverse effects to therapeutic agents.” Efforts can be directed at establishing a panel of variants that might be helpful for fetching lacking knowledge in the long run small scale genotyping or low depth sequencing. This would even be helpful for correlating diseases-genetics associations in the Indian inhabitants.
Elaborating additional, Dr. Thangaraj stated, “Some of the variants may be associated with individuals susceptible to infectious diseases, while some variants might be responsible for resistance to infectious diseases. It is also possible that some variants will be associated with adaptations to particular environments such as high altitudes and low oxygen concentration.”
Explaining how the genome knowledge can be put to real-time functions, Dr. Thangaraj stated the knowledge on variants related to particular illnesses may be utilised for growing low-cost diagnostic kits and for personalised drugs. “In-depth analyses of 9,772 diverse genomes along with the blood biochemistry and anthropometry data will improve disease diagnostics, predict the genetic basis of drug responses, and kickstart precision medicine efforts in India,” the authors write. An in depth paper can be printed in the following couple of months.
The GenomeIndia is a collaborative effort of 20 establishments. Genome sequencing was carried out by the Centre for Brain Research at IISc Bangalore, Centre for Cellular Microbiology Biology in Hyderabad, Institute of Genomics & Integrative Biology in Delhi, National Institute of Biomedical Genomics in Kolkata, and Gujarat Biotechnology Research Centre in Gandhinagar.
Published – April 08, 2025 08:22 pm IST
