Blood samples have been taken from about 20,000 individuals, of which DNA samples out of 10,074 individuals were subjected to the entire genomic sequencing. Photo: genomeindia.in
The preliminary finding of the Genomeindia project, which genotyped 10,074 healthy and unrelated Indians from 85 populations-32 stem and 53 non-Kame-in all, were published on Tuesday (April 8, 2025) in Nature Nature Genetics (April 8, 2025). Blood samples have been taken from about 20,000 individuals, of which DNA samples out of 10,074 individuals were subjected to the entire genomic sequencing.
About 100 samples with a median of 159 samples from each non -shortean group and 75 samples from each tribal group have been removed from each population to estimate relatively rare variants that are important for understanding complex diseases.
After the expulsion of two populations, preliminary findings are based on genetic information of 9,772 individuals – 4 696 men and 5,076 participants. Genoma sequence data is stored in the Indian Biological Data Center (IBDC) located in the Regional Center for Biotechnology in Faridabad, Haryana.
The genomes of the Tibeto-Burman, the Indo-European tribe, the predatian tribe, the Austasiatic tribe and the continentally credited Outgroup were seized. In the case of non -men, the genomes of the Tibeto-Bburg non-Kame, Indo-European non-Kamen and the Davidian leaking were seized.
180 million genetic variants
In total, 180 million genetic variants were found when 9,772 individuals were seized. Of the 180 million, 130 million variants are found in chromosomes outside sex (22 pairs of autosomes) and 50 million variants are in sex chromosomes X and Y. Some variants are associated with diseases; Some others are rare, while some variants are unique to India; And some others are unique for specific communities or small populations.
“Now we are trying to find out the consequences of these variants,” Dr. Kumarasama Thangara from the Center for Cell and Molecular Biology (CSIR-CCMB), Hyderabad and one of the corresponding authors of the piece with commentary. “We are looking for variants that are functionally relevant – related to diseases, those associated with therapeutic reactions, or no reactions, and those that cause adverse effects of therapeutic substances.” Efforts will focus on the design of the variant panel that would be useful to load the missing data in the future small genotyping or low depth sequencing. This would also be useful for correlation of genetic diseases in the Indian population.
Thangaraj also said: “Some variants may be associated with individuals susceptible to infectious diseases, while some variants may be responsible for infectious disease resistance. It is also possible that some variants will be associated with adaptations to a particular environment such as high altitude and oxygen concentration.”
Thangaraj, who explained how genome data will be provided in real -time applications, said that information about variants associated with specific diseases can be used for the development of low -cost diagnostic kits and for personalized medicine. “Deep analyzes of 9 772 various genomes together with data on blood biochemistry and anthropometry will improve the diagnosis of the disease, predicting the genetic basis of drug reactions and efforts to accurate medicine in India,” the authors write. A detailed contribution will be published in the next few months.
Genomeindia is an effort to cooperate 20 institutions. The genome sequencing was carried out by the Brain Research Center in Bangalore IISC, the Cell Microbiological Biology Center in Hyderabad, Genomics and the Integration Biology in Dilli, the National Institute of Biomedical Genomics in Kolkata and Gujarat Biotechnology Research.
Published – April 8, 2025 20:22 IS IS
