GenomeIndia Project: Preliminary Findings

Overview

The GenomeIndia project has published its preliminary findings in the journal Nature Genetics, focusing on the genetic diversity among Indians. The study involves genotyping 10,074 healthy and unrelated Indians from 85 populations, which includes both tribal and non-tribal groups.

Data Collection and Methodology

• Blood samples from approximately 20,000 individuals were collected.
• Whole genome sequencing was conducted on DNA samples from 10,074 individuals.
• 85 populations were studied: 32 tribal and 53 non-tribal, across India.
• The study excluded two populations, focusing on 9,772 individuals (4,696 males and 5,076 females).
• Data has been deposited in the Indian Biological Data Centre (IBDC) in Haryana.

Genomes Sequenced

• Tribal groups: Tibeto-Burman, Indo-European, Dravidian, Austro-Asiatic, and a continentally admixed outgroup.
• Non-tribal groups: Tibeto-Burman, Indo-European, and Dravidian.

Genetic Variants and Their Significance

• Total genetic variants identified: 180 million.
• 130 million variants found in autosomes (non-sex chromosomes).
• 50 million variants found in the sex chromosomes (X and Y).

Research Focus

• Identifying functionally relevant variants related to diseases, therapeutic responses, and adverse effects.
• Constructing a panel of variants for future genotyping and disease-genetic correlations.
• Exploring variants linked to disease susceptibility and environmental adaptations.

Applications

The study aims to utilize genetic information to develop low-cost diagnostic kits and advance personalized medicine. This initiative will enhance disease diagnostics, predict genetic drug responses, and promote precision medicine in India.

Collaborative Effort

• Involves 20 institutions, with genome sequencing conducted by prominent research centers including IISc Bangalore and others.