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Genome sequencing and the Genome India Project

Published: 27th Apr, 2023

Context

The Department of Biotechnology (DBT) recently said that the exercise to sequence 10,000 Indian human genomes and create a database under the Centre-backed Genome India Project is about two-thirds complete. 

What is the human genome?

  • The human genome is the entire set of deoxyribonucleic acid (DNA) residing in the nucleus of every cell of each human body. 
  • It carries the complete genetic information responsible for the development and functioning of the organism. 
  • Base: The DNA consists of a double-stranded molecule built up by four bases – 
    • adenine (A)
    • cytosine (C)
    • guanine (G) 
    • thymine (T)
  • Every base on one strand pairs with a complementary base on the other strand (A with T and C with G).
  • In all, the genome is made up of approximately 3.05 billion such base pairs. 

What is genome sequencing?

  • While the sequence or order of base pairs is identical in all humans, there are differences in the genome of every human being that makes them unique. 
  • The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.

Important Projects

  • Human Genome Project: In 1990, a group of scientists began to work on determining the whole sequence of the human genome under the Human Genome Project.
    • The first results of the complete human genome sequence were given in 2003. However, some percentage of repetitive parts were yet to be sequenced. 
    • The Human Genome Project released the latest version of the complete human genome in 2023, with a 0.3% error margin. 
    • Genome India project: Genome India Project is a research initiative   to gather samples, compile data, conduct research, and create a ‘Indian reference genome' grid
    • India’s 1.3 billion-strong population consists of over 4,600 population groups,many of which are endogamous. Thus, the Indian population harbours distinct variations, with disease-causing mutations often amplified within some of these groups. 
    • Creating a database of Indian genomes allows researchers to learn about genetic variants unique to India’s population groups and use that to customise drugs and therapies. 

Application of genome sequencing

  • Genome sequencing has been used to evaluate rare disorders, preconditions for disorders, even cancer from the viewpoint of genetics, rather than as diseases of certain organs. 
  • Nearly 10,000 diseases — including cystic fibrosis and thalassemia — are known to be the result of a single gene malfunctioning.

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