A comparison of more than 2,700 complete genomes from South Asians uncovers a wealth of ancient and recent diversity and genetic links to disease.

© Photo courtesy of unsplashIndia is one of the most diverse countries in the world. A new analysis of Indian genomes shows an ancient admixture of genes from Neanderthals and Denisovans, and more recent mingling of genes from Iranian farmers, Central Asian steppe pastoralists and hunter-gatherers from South Asia.
With around 5,000 different ethno-linguistic and religious groups,
India is one of the most culturally and genetically diverse countries in the world. Yet, it remains underrepresented in genomic surveys, even when compared to other non-European groups, such as East Asians and Africans.
A new analysis of Indian genomes — the largest and most complete to date — helps untangle these groups' complex evolutionary history, uncovering a 50,000-year history of genetic mixing and population bottlenecks that shaped genetic variation, health and disease in South Asia.
The analysis, led by researchers at the University of California, Berkeley, the All India Institute of Medical Sciences (AIIMS) in New Delhi, India, the University of Southern California (USC) and the University of Michigan, was
published today (June 26) in the journal
Cell.
"These findings fill a critical gap and reshape our understanding of how ancient migrations, archaic admixture and social structures, like endogamy, have shaped the Indian genetic variation and risk of diseases, and will help inform precision health strategies in India," said
Priya Moorjani, a senior author of the paper and a UC Berkeley assistant professor of molecular and cell biology.
Because of the complex history of gene flow and endogamy, or within-community marriages, Moorjani said,
some groups within India are as genetically different from each other as Europeans are from East Asians. Studying diverse individuals across India thus helps to understand how ancient ancestry, geography, language and social practices interacted.