The GenomeIndia Project
GenomeIndia is a pioneering scientific project funded by the Department of Biotechnology, Ministry of Science and Technology, Government of India. The project marks a landmark collaboration of 20 academic and research institutions to drive a genomics-based health revolution for India. Prof. Y. Narahari (Indian Institute of Science) and Prof. K. Thangaraj (CCMB-Hyderabad) (Centre for Cellular and Molecular Biology) are the joint national coordinators of this project.
India is home to more than 1.47 billion people and one of the most complex patterns of human genetic diversity in the world. However, Indian populations remain under-represented in global genetic databases, limiting our understanding of human biology and reducing the accuracy of medical studies that rely on genetic data.
The GenomeIndia project has striven to address this gap by creating a map of genetic variation across the Indian subcontinent. In this study, researchers sequenced the complete genomes of 9,768 healthy individuals drawn from 83 populations, representing the major linguistic groups, geographic regions, and social groups across India. Overall, more than 20000 samples have been collected, creating a biobank for future use.
The study has identified nearly 130 million genetic variants, including more than 44 million variants that had not previously been recorded in global databases. Many of these variants are rare and occur within specific communities that have experienced long histories of isolation, migration, or endogamy (marriage within a group).
The results provide an unprecedented view of how geography, language, and cultural practices have shaped the genetic structure of Indian populations. The research has also identified several communities that have experienced strong founder effects and genetic drift, which can influence the distribution of inherited diseases.
Importantly, the study finds that genetic risk prediction, based largely from inferences drawn on European populations, perform less than satisfactorily when applied to Indian populations. To address this limitation, the GenomeIndia Consortium has developed an Indian population–specific imputation panel, which substantially improves the accuracy of genetic variant prediction compared with existing global reference panels, particularly for South Asian populations. This resource will help make genetic studies and risk prediction more accurate and relevant for people from the region.
By creating a large and diverse reference dataset, the GenomeIndia project provides an important foundation for future research into human history, disease genetics, and precision medicine in South Asia.
For more information on the GenomeIndia Project, please look up: https://genomeindia.in/.
Marker Paper in Nature Genetics
A marker paper on the Pan-India GenomeIndia project published in medRxiv. I happen to be a joint national coordinator of this project, with Prof. K. Thangaraj (CCMB, Hyderbad). Mapping genetic diversity with the GenomeIndia project. Nature Genetics. Volume 57, April 2025. Pages 767-773. Springer.
Flagship Manuscript in medRxiv Flagship manuscript of the Pan-India GenomeIndia project published in medRxiv. I happen to be a joint national coordinator of this project, with Prof. K. Thangaraj (CCMB, Hyderbad). An Atlas of Indian Genetic Diversity. https://medrxiv.org/cgi/content/short/2026.03.20.26348801v1. 20 March 2026.