Genome sequencing and the Genome India Project

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 make them unique.
The process of deciphering the order of base pairs, to decode the genetic fingerprint of a human is called genome sequencing.

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 an ‘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, and 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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