India's genetic map uncovers missing mutations

India's largest genetic study has revealed the discovery of approximately 130 million genetic variants, of which 44 million had not been previously recorded in global databases. This analysis was conducted on the genomes of 9,768 individuals from 83 different ethnic groups. The results showed increased levels of genetic similarity within some tribes, which raises the likelihood of inherited diseases, such as Alkaptonuria, being present among them—found in 12.5% of residents of a particular tribe—a detail not documented in current global databases. The study highlights the importance of developing localized genetic maps to enhance understanding of diseases and improve treatments, especially given the variation in drug responses based on genetic background. It also underscores the need to diversify the representation of populations in genetic databases worldwide.

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