Why in the News?

The preliminary findings of Genome India Project, based on the whole genome sequencing of 10,074 healthy and unrelated Indians from 85 populations across the country, were published recently.

About Genome India Project

• The Genome India Project was launched in January 2020 to map the genetic diversity of India’s population.
• It is a collaborative project supported and funded by the Department of Biotechnology, GoI, involving multiple institutions across the country.
• Objectives:
  • Decode the genetic diversity of India’s population through large-scale genome sequencing.
  • Create an exhaustive catalog of genetic variations, including common, low-frequency, rare, single nucleotide polymorphisms (SNPs), and structural variations.
  • Develop a reference haplotype structure for Indians, which can be used to impute missing genetic variation in future studies.
  • Design genome-wide arrays for research and diagnostics at an affordable cost.
  • Establish a biobank for DNA and plasma collected for future research use.
• The Genome India Database, which houses the genetic data, is now available to researchers worldwide and is stored at the Indian Biological Data Centre (IBDC) in Faridabad, Haryana.

Preliminary findings of the Study

• The project genotyped 10,074 individuals from 85 populations, including 32 tribal and 53 non-tribal groups across India.
• Blood samples were collected from around 20,000 individuals, with DNA samples from 10,074 individuals subjected to whole genome sequencing.
• A total of 180 million genetic variants were identified, of which 130 million are in non-sex chromosomes (22 autosomes) and 50 million are in sex chromosomes X and Y.
• Variant Significance:
  • Variants associated with diseases.
  • Rare variants.
  • Variants unique to India or specific communities.

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