Preliminary findings of 10,000 human genome study published
The Hindu
Preliminary findings of the GenomeIndia project reveal genetic variants in Indian populations, aiding precision medicine and disease diagnostics.
Preliminary findings of the GenomeIndia project, which genotyped 10,074 healthy and unrelated Indians from 85 populations — 32 tribal and 53 non-tribal populations — across India, were published in the journal Nature Genetics on Tuesday (April 8, 2025). Blood samples were collected from about 20,000 individuals, of which DNA samples from 10,074 individuals were subjected to whole genome sequencing.
About 100 samples were collected from each population with a median of 159 samples from each non-tribal group and 75 samples from each tribal group to estimate the relatively rare variants that are important to understand complex diseases.
After excluding two populations, the preliminary findings are based on the genetic information of 9,772 individuals — 4,696 male participants and 5,076 female participants. The genome sequence data 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 were sequenced. In the case of non-tribes, the genomes of Tibeto-Burman non-tribe, Indo-European non-tribe, and Dravidian non-tribe were sequenced.
In all, 180 million genetic variants were found when the genomes of 9,772 individuals were 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 sex chromosomes X and Y. Some of the variants are associated with diseases; some others are rare while some variants are unique to India; and some others are unique to particular communities or small populations.
“We are now trying to find out the implications of these variants,” said Dr. Kumarasamy Thangaraj of the Centre for Cellular and Molecular Biology (CSIR-CCMB), Hyderabad, and one of the 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 will be directed at constructing a panel of variants that would be useful for fetching missing data in the future small scale genotyping or low depth sequencing. This would also be useful for correlating diseases-genetics associations in the Indian population.
Elaborating further, Dr. Thangaraj said, “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.”
Researchers confirm Bohr's predictions over Einstein's theory in a groundbreaking one-atom experiment, revealing insights into quantum behavior.
A tribute to Helmut Schippert who launched Chennai Photo Biennale and brought together artistes, writers, and environmentalists during his stint as director of the Goethe-Institut and beyond
Discover why stress triggers bathroom urges, as adrenaline affects bladder sensitivity and gut contractions during anxiety.
Explore the necessity, types, challenges, and potential of bioremediation in India for environmental restoration and public health.
Researchers in India uncover genetic factors linked to early oral cancer onset in tobacco chewers, enhancing cancer prediction and prevention.
Mahindra’s XEV 9S is a modern, family-focused electric SUV with premium design, a spacious tech-rich cabin, refined performance and advanced safety features. Discover variants, pricing and real-world impressions in our detailed review.
Samantha interview: On pickleball, her battles with a rare autoimmune condition and learnings
Experience the thrilling Akkulam Glass Bridge in Thiruvananthapuram, offering stunning views and adventure activities for all ages.
Climate scientists and advocates long held an optimistic belief that once impacts became undeniable, people and governments would act. This overestimated our collective response capacity while underestimating our psychological tendency to normalise, says Rachit Dubey, assistant professor at the department of communication, University of California.
Indian astronaut Shubhanshu Shukla predicts a transformative decade for India’s space exploration and international collaboration.