The human genome is a sequence of about three billion nucleotides (basic structural units of DNA), represented by four letters A, C, G, T. 0.1 % of it differs between any two individuals on an average. These genetic variations among individuals are crucial for understanding our disease predispositions, rare inherited disorders, determine our response to drugs, as well as help track migration and evolutionary patterns of population groups.

Populations across the world differ in their genetic makeup and environmental influences. Therefore, it is important to examine the risk factors for complex genetic diseases and rare genetic variations contributing to specific disorders in population specific studies.

The Indian population of 1.3 billion consists of >4600 population groups, and several thousand of them are endogamous. These factors have contributed to the genetic diversity of the current day Indian population. Thus, the Indian population harbor distinct variations and often many disease-causing mutations are amplified within some of these groups. Therefore, findings from population based or disease based human genetics research from other populations of the world cannot be extrapolated to Indians.

Therefore, the GenomeIndia endeavor is complex yet much needed to understand our nation’s genetic makeup.

The specific aims for the project are:

  1. Create an exhaustive catalog of genetic variations (common, low frequency, rare, single nucleotide polymorphisms or SNPs and structural variations) in Indians.
  2. Create a reference haplotype structure for Indians. This reference panel can be used for imputing missing genetic variation in future GWA studies.
  3. Design genome wide arrays for research and diagnostics at an affordable cost.
  4. Establish a biobank for DNA and plasma collected for future use in research.

For this purpose, individuals across India are enrolled into the study based on ethnicity of the population groups, geographical location, and linguistic preferences. Whole genome sequencing is executed in four centres in the country, including CBR.

This is a national project funded by Department of Biotechnology, Government of India, and spearheaded by CBR aiming to identify genetic variations through whole genome sequencing of 10,000 representative individuals across India in the first phase of the study. The 20 national institutes across the country who form the working consortium are represented below.

The results from this project would be a valuable national resource for the country. They will collectively facilitate future large-scale human genetic studies for researchers across India. The database of harmonized genetic variants will empower worldwide variant interpretation efforts and are likely to be the foundational resource for next-generation basic and clinical research in India. Overall, this will be transformational for the healthcare scenario of the country in the long run.