Sat Apr 12 19:38:00 UTC 2025: ## GenomeIndia Project Unveils Genetic Map of India, Revealing 180 Million Mutations

**Bengaluru, India (April 13, 2025)** – The preliminary findings of the GenomeIndia project, a landmark study sequencing the genomes of nearly 10,000 Indians, have been published in *Nature Genetics*. The ambitious project, launched in 2020 and funded by the Department of Biotechnology, aimed to capture the genetic diversity of India’s diverse population, a significantly underrepresented group in global genomic research.

The study analyzed DNA samples from 9,772 individuals representing 83 distinct population groups across India, including both tribal and non-tribal communities. Researchers identified a staggering 180 million mutations, with 130 million located in non-sex chromosomes and 50 million in sex chromosomes. The vast majority (98%) of these variations reside in non-coding regions of the genome.

A key focus was on the impact of endogamy, the practice of marrying within one’s own group, which is prevalent across the studied populations. This practice has led to population-specific genetic variations, including unique disease-causing mutations. The researchers emphasize the importance of these findings for understanding the genetic basis of diseases prevalent in specific Indian populations.

The data generated by GenomeIndia is expected to revolutionize healthcare in India. The identification of disease-associated genetic variations will pave the way for precision medicine, enabling the development of targeted treatments and interventions tailored to the Indian genetic landscape. Furthermore, the findings will facilitate the creation of affordable, genomics-based diagnostic tools, leading to earlier disease detection and improved prevention and management strategies.

The collaborative project involved 20 Indian institutions, highlighting the scale and national significance of this achievement in mapping India’s rich genetic heritage. The study also underscored the importance of representing diverse populations in genomic research to avoid biases inherent in predominantly Eurocentric studies.

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