Scientists have completed a project to sequence the genomes of 10,000 Indians to build a database that could provide fresh insights into links between genes and health and fuel advances towards personalised precision medicine.

The Indian project — similar to sequencing efforts in other countries — might help pinpoint potentially deleterious genetic mutations associated with specific diseases and provide clues that could be used to develop preventive health strategies or therapy tailored for specific individuals, project scientists have said.

A consortium of scientists from 20 research institutions was engaged in the project funded by the department of biotechnology (DBT), a unit of the Union science ministry, and aimed at genome sequencing 10,000 representative Indians from across the country.

“We have in India more than 4,600 anthropologically well-defined population groups — a diversity of genomes marked by multiple migrations as well as intermixing,” said K. Thangaraj, a scientist at the Centre for Cellular and Molecular Biology, Hyderabad, a joint coordinator of the project.

“Only a large sequencing project can meaningfully capture the diversity in our population,” said Thangaraj whose study more than 15 years ago had established that the tribes in the Andaman islands are the descendants of modern humans who trudged out of Africa some 65,000 years ago.

The 10,000 genome sequencing effort will provide “a refence genetic database” for Indian populations that can serve as a detailed catalogue of genetic variations found in India, said Y. Narahari, the project’s joint coordinator in the Centre for Brain Science at the Indian Institute of Science, Bangalore.

Preliminary findings from the project include a catalogue of 135 million genetic variants identified in a set of 5,750 genome samples, the discovery of disease-specific genetic variants that appear to influence the risk of high cholesterol, several cancers and certain heart diseases, Narahari said.

The project has also helped medical researchers identify genetic variants that are associated with resistance or ineffectiveness of certain medicines such as anti-coagulant drugs and anti-viral drugs. Such findings could in future guide doctors into tailoring treatment according to a person’s genetic makeup.

The catalogue of genetic variants may serve as a starting point for expanding precision medicine in the country, according to a document outlining possible outcomes of the 10,000 genome project. Links between specific gene variants and susceptibility to non-communicable diseases such as cardiovascular conditions may be used to guide individuals into reducing their risk of disease.