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Posted 09 Apr 2025

2 min read

Preliminary findings of the GenomeIndia project revealed 180 million genetic variants from 9,772 individuals across India.

  • A gene variant is a permanent change in the DNA sequence that makes up a gene. 
  • Genome is entire set of genetic material (DNA or RNA in some) present in an individual or species. 
Image showing details of GenomeIndia Project

About the study

  • Coverage: Both tribal and non-tribal groups of Tibeto-Burman, Indo-European, Dravidian, and other tribal groups including Austro-Asiatic, and Admixed populations. 
  • Types of Chromosomes Studied: Both non-sex chromosomes (autosomes) as well as sex chromosomes (X and Y). 

Why Does This Study Matter?

  • Understanding the Unique Genetic Makeup: About 0.1 % of the entire sequence differs between any two individuals. 
    • These genetic variations among individuals are crucial for understanding our disease predispositions and rare inherited disorders.
    • It will help in understanding the history, natural selection and adaptation of these communities. 
  • Building a Reference Panel: This could facilitate creating a variant panel useful for future small-scale studies, helping fill in missing data and link genes to diseases in the Indian population.
  • Application in Healthcare: It will develop low-cost diagnostic kits, furthering Precision medicine efforts by disease diagnosis and predicting the genetic basis of drug responses etc. 
    • It will help in advancing public health interventions as well. 
  • Tags :
  • Genome Sequencing
  • Genome
  • GenomeIndia Project
  • Chromosomes
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