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The project is seen as a key step to being able to learn about genetic variants that are unique to India’s population groups and use that to customise drugs and therapies

The Department of Biotechnology (DBT) on Tuesday officially announced the completion of the ‘10,000 genome’ project — an attempt to create a reference database of whole-genome sequences out of India. While India first sequenced a complete human genome in 2006, creating a database that is representative of the diversity of India’s population, is seen as a key step to being able to learn about genetic variants that are unique to India’s population groups and use that to customise drugs and therapies. The United Kingdom, China, and the United States are among the countries that have programmes to sequence at least 1,00,000 of their genomes.

About 20 institutions across India are involved in the project with the Indian Institute of Science (IISc), Bengaluru and the Centre for Cellular and Molecular Biology, Hyderabad being the lead institutions coordinating the project.

Distinct variations

The Indian population of 1.3 billion consists of over 4,600 population groups, and many of them are endogamous. These factors have contributed to the genetic diversity of the current population. Thus, the Indian population harbours distinct variations and often many disease-causing mutations are amplified within some of these groups. “There are harmful mutations that are less prevalent in the world but located in endogamous groups at a high frequency [relative to their population] in India,” said Kumaraswamy Thangaraj of the CCMB and one of the leaders of the initiative. “This has been a revolutionary initiative but going ahead we will need to sample many more thousands of genomes to pick out more, rare mutations.”

The main outcomes of such an enterprise would be to gain deeper insight into India’s population diversity, improve diagnostic methods and medical counselling, find genetic predispositions to disease, develop personalised and customisable drugs, improve gene therapy and throw more light on individual susceptibility to infectious disease.

Dr. Y. Narahari of the IISc said the creation of a biobank housing 20,000 blood samples (from which genomes were sequenced) at the Centre for Brain Research, IISc, coupled with data archiving at the Indian Biological Data Centre “exemplified” the project’s commitment to transparency, collaboration, and future research endeavours. All the data are being stored at the Indian Biological Data Centre (IBDC) set up by the Department of Biotechnology, Government of India at the Regional Centre for Biotechnology (RCB), Faridabad.