Researchers in India have achieved a new milestone as they completed sequencing 10,000 healthy human genomes. These genomes are from different regions of the country and represents 99 distinct populations. This is the government’s initiative known as “Genome India”.

The genome sequencing has created a comprehensive genetic map of India. “Sequencing 10,000 genomes and creating an Indian repository is a big achievement. The first whole human genome sequence was announced in 2003. It was completed over 13 years at the cost of $3 billion. The technology has come a long way, allowing us to sequence thousands of genomes in a matter of months, said Dr Rajesh Gokhale, Secretary of the Department of Biotechnology.

Analysing 5,750 of these genomes has helped in identifying 135 million genetic variants found in India.

Prof Y Narahari, one of the two people leading the project and a senior scientist at the Indian Institute of Science, Bengaluru said, “Some of these variations occur only in certain pockets of the population, while some are commonly found across large parts of the population. This data can now be associated with their physical traits or disease history.

“It can also help in identifying resistance indicating variants, for example, genes that might make certain medicines or anaesthetics ineffective in certain populations. It can also help identify targets for diagnostics and therapeutics,” he added.

Prof K Thangaraj, senior scientist at the Centre for Cellular and Molecular Biology in Hyderabad and project lead said, “We need an India-specific database because mutations found here might not be present globally. Take for example, a mutation MYBPC3 that leads to cardiac arrest at a young age is found in 4.5% of the Indian population but is rare globally. Or, another mutation called LAMB3 that causes a lethal skin condition is found in nearly 4% of the population near Madurai but it is not seen in global databases.”

What is human genome sequencing?

Human genome sequencing is an advanced scientific process that maps out the entire sequence of DNA present in a person’s chromosomes.

You can think of the human genome as a book that contains all the instructions for making and maintaining a human being. This book is written in a special code, made up of about 3 billion pairs of chemical units called nucleotides, arranged in a specific order. By sequencing the genome, scientists can read and understand this code. This knowledge allows them to identify how genes work together, how they contribute to our health and disease, and how they pass traits from one generation to the next.

It allows researchers to have a detailed blueprint of human life, offering incredible insights into genetics, medicine and more.

Why is genome sequencing important?

Human genome sequencing is important because it opens up new paths in medicine, genetics and biology. By understanding the exact sequence of the billions of nucleotides that make up human DNA, scientists can identify the genetic roots of diseases which can eventually help in more precise diagnosis, tailored treatments and even personalized medication. This knowledge helps in predicting an individual’s susceptibility to certain conditions, helping them take preventative measures.

2024-02-28T05:54:22Z dg43tfdfdgfd