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What is the GenomeIndia Project?
GenomeIndia (GI) is a pan-India initiative funded by the Department of Biotechnology (DBT), Ministry of Science & Technology, Government of India, aiming to create a comprehensive catalogue of genetic variations across India’s diverse population.
When was the GenomeIndia Project conceptualised and when was it launched?
The project was conceptualised in late 2017 followed by two years of intense brainstorming and preparation by the GenomeIndia consortium under the leadership of Prof. Vijayalakshmi Ravindranath. The project was officially sanctioned in late 2019 and was launched in January 2020.
What is the constitution of the GenomeIndia Consortium?
The GI Consortium comprises institutions with the following responsibilities:
For details on the members of the consortium, please look up: https://genomeindia.in/institute.php
Who coordinates the GenomeIndia project?
The institution coordinating the GI project is the Centre for Brain Research (CBR), Bengaluru (https://cbr-iisc.ac.in/). Prof. Vijayalakshmi Ravindranath from CBR became the founding national coordinator of the GI project until 2022. Subsequently, the GenomeIndia project has been jointly coordinated by Prof. Y. Narahari, IISc, Bengaluru and Prof. K. Thangaraj, CSIR-CCMB, Hyderabad. Dr. Suchita Ninawe, Senior Adviser and Scientist-H, DBT, is the Scientific Coordinator. Dr. Richi Mahajan, Scientist-D, DBT, is the Administrative Scientist. Details of the scientists associated with the GI project may be found in: https://genomeindia.in/people.php.
What are the goals of the GenomeIndia Project?
How many samples have been collected and sequenced?
20,195 samples have been collected and archived in the Biobank at CBR, Bengaluru. The samples collected belong to healthy individuals (as self-declared by the individuals). 10074 samples have been sequenced. 13242 samples have undergone GWAS (Genome Wide Association Studies).
How many populations/ethnic groups are covered by the GenomeIndia Project?
Samples span 83 distinct Indian populations (also known as ethic groups), ensuring a balanced representation of anthropological, sociocultural, and ethnolinguistic diversity. In particular, the study covered diverse populations including the Tibeto-Burman, Indo-European, Dravidian, and Austro-Asiatic speakers, encompassing both tribal and non-tribal groups.
Where is the genomic data stored?
Sequencing data is archived at the Indian Biological Data Centre (IBDC), Faridabad. The following data is archived: (a) FASTQ data for 9,772 samples (b) gVCF files for the above samples (c) joint call files , and phenotype data for about 9,000 samples.
What guidelines govern data sharing?
The project follows Biotech-PRIDE Guidelines (2021) and the FeED Protocol (Framework for Exchange of Data) (2025) for responsible, equitable data access. These documents can be accessed respectively from Biotech-PRIDE Guidelines (2021) and FeED Protocol (2025) .
Have the results of the GenomeIndia data analysis conducted by the consortium been published?
Results of preliminary analysis were published in April 2025 as a comment in Nature Genetics entitled “Mapping Genetic Diversity with the GenomeIndia Project.” The article can be accessed from the Nature Genetics website .
What are the principal findings reported in the Nature Genetics?
The research has revealed that linguistic and geographical diversity manifested as genetic diversity, reflecting India's complex ethnolinguistic structure across 83 endogamous population groups.
Key findings include the identification of 180 million genetic variants from 9,772 individuals, with 27 million rare variants, linked to diseases such as hypercholesterolemia, hypertrophic cardiomyopathy, and cancers. Of these rare variants, seven million are novel and not found in similar global databases, highlighting India's unique genetic landscape.
The comprehensive catalog produced by the GI project establishes foundational data for taking up precision medicine initiatives specific to Indian populations, enabling population-specific disease risk assessment and drug response predictions while contributing significantly to the understanding of global genomic diversity.
For more details, please look up the article at https://www.nature.com/articles/s41588-025-02153-x .
What are the future prospects for the GenomeIndia initiative?
Currently (as of August 2025), the GI consortium is engaged in preparing a comprehensive flagship manuscript describing all the major findings of the study for worldwide dissemination of the analysis results. The sequencing data archived at IBDC (Indian Biological Data Centre) will become available to interested researchers for academic/ research purposes. An impactful future outcome would be to detail genome-wide and disease-specific SNP arrays and harness the same towards developing low-cost diagnostics. The availability of the data is expected to spawn a multitude of scientific investigations through cutting edge research projects, leading to exciting new findings. Some of the future studies will establish steps toward personalized healthcare tailored to India’s unique genetic makeup. GenomeIndia has provided a pathway for understanding India’s genetic diversity and is creating a solid foundation for future studies. The next frontier must provide a complete coverage (much beyond what was possible with 20000 samples) for all linguistic/ ethnic groups; varied healthcare settings and diseases; tribal, rural, and marginalized populations; and coverage for all states and union territories. Longitudinal studies could also be planned to scientifically track the medical status of individuals and progression of diseases.
Where do I get more information about the GenomeIndia Project?
The GenomeIndia Digest (published in February 2024) is a coffee table book that provides a rich source of information on all aspects of the GI Project. This is available at https://dbtindia.gov.in/ebook/feed-protocols-genomeindia-digest . There is a 7-minute documentary video that captures all essential details of the GenomeIndia project. You can view the video at: Watch GenomeIndia Video . On February 27, 2024, there was an event organized in New Delhi by the Department of Biotechnology, Ministry of Science & Technology, to mark the completion of sequencing of 10000 genomes. The meeting was addressed by Dr. Jitendra Singh-Ji, the Hon’ble Union Minister of State of Science & Technology (IC). For a video recording of the event, please look up: https://www.youtube.com/watch?v=EEPld3bW6zQ&t=4017s On January 9, 2025, Hon’ble Prime Minister Shri Narendra Modi-Ji addressed the delegates of the “Genomics Data Conclave and Release of GenomeIndia Data ” organized in the Vigyan Bhawan, New Delhi, by the Department of Biotechnology, Ministry of Science & Technology. Dr. Jitendra Singh-Ji, the Hon’ble Union Minister of State of Science & Technology (IC) also addressed the delegates. During the event, the IBDC portal was launched to enable access to the GenomeIndia data. For a video recording of the event, please look up: Watch the event on YouTube . The GenomeIndia website provides up-to-date information on the project and can be accessed at https://genomeindia.in/index.php