Genome Sequencing

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Context: Scientists have mapped the genome of the Indian Cobra.

Relevance:
Prelims: Prelims: Current events of national and international importance.
Mains: GS III-

  • Awareness in the fields of IT, Space, Computers, robotics, nano-technology, bio-technology and issues relating to intellectual property rights.

What Is  Genome Sequencing?

Genome:

  • It is an organism’s complete set of DNA, including all of its genes.

Genome sequencing:

  • It is figuring out the order of DNA nucleotides, or bases, in a genome—the order of As, Cs, Gs, and Ts that make up an organism's DNA. The human genome is made up of over 3 billion of these genetic letters.
  • It is a method of isolating and identifying variable elements within the base-pair sequence of DNA (deoxyribonucleic acid) as it shows a high degree of polymorphism (variation) at the genetic level.
  • Polymorphism forms the basis of genome sequencing since DNA from every tissue (such as blood, hair follicle, skin, bone, saliva, sperm, etc.) from an individual shows the same degree of polymorphism.
  • Genomics is an interdisciplinary field of science focusing on the structure, function, evolution, mapping, and editing of genomes.
  • Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing.
  • Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.
  • It can be noted that a group of Indian scientists and companies are already involved with a 100k Genome Asia project, which aims to sequence the whole genomes of 100k Asians, including 50,000 Indians.

How Genome Sequencing is done?

Why genome sequencing?

  • Ever since the human genome was first sequenced in 2003, it opened a fresh perspective on the link between disease and the unique genetic make-up of each individual.
  • Nearly 10,000 diseases — including cystic fibrosis, thalassemia — are known to be the result of a single gene malfunctioning.
  • While genes may render some insensitive to certain drugs, genome sequencing has shown that cancer too can be understood from the viewpoint of genetics, rather than being seen as a disease of certain organs. 

What are the uses of genome sequencing?

  • A genome is an organism’s complete set of DNA, including all of its genes.
  • Genomics is an interdisciplinary field of science focusing on the structure, function, evolution, mapping, and editing of genomes.
  • Genomics also involves the sequencing and analysis of genomes through uses of high throughput DNA sequencing.
  • Advances in genomics have triggered a revolution in discovery-based research and systems biology to facilitate understanding of even the most complex biological systems such as the brain.

 

Human genome:
  • It is made up of 23 chromosome pairs with a total of about 3 billion DNA base pairs.
  • There are 24 distinct human chromosomes: 22 autosomal chromosomes, plus the sex-determining X and Y chromosomes.
  • Chromosomes 1-22 are numbered roughly in order of decreasing size.
  • Somatic cells usually have one copy of chromosomes 1-22 from each parent, plus an X chromosome from the mother and either an X or Y chromosome from the father, for a total of 46.
  • There are an estimated 20,000-25,000 human protein-coding genes.
  • The estimate of the number of human genes has been repeatedly revised down from initial predictions of 100,000 or more as genome sequence quality and gene finding methods have improved and could continue to drop further.

 

Human Genome Project:
  • The Human Genome Project was an international research effort to determine the sequence of the human genome and identify the genes that it contains.
  • The Project was coordinated by the National Institutes of Health and the U.S. Department of Energy.
  • It was a 13-year-long, publicly funded project initiated in 1990 with the objective of determining the DNA sequence of the entire euchromatic human genome within 15 years.
  • The overwhelming success of the Human Genome Project is readily apparent. Not only did the completion of this project usher in a new era in medicine, but it also led to significant advances in the types of technology used to sequence DNA.
  • Today, the goal of personalized medicine is to utilize information about a person's genes, including his or her nucleotide sequence, to make drugs better and safer.
  • For example, the evolution of Her2/neu and Response to Breast Cancer Treatment and CYP450 and Response to Antidepressants are the direct results of the Human Genome Project.
  • India was not part of the project.

 GenomeIndia initiative:

  • The project is to be carried out in two phases:
    • The first phase of the project involves sequencing the complete genomes of 10,000 healthy Indians.
    • The second phase involves genome sequencing of 10,000 diseased individuals.
  • Data on human sequencing would be accessible to researchers through a proposed National Biological Data Centreenvisaged in Biological Data Storage, Access and Sharing Policy.
  • National Centre for Cell Sciences will collect samples of the microbiome from the human gut.

Significance:

  • The data generated would be accessible to researchers anywhere for analysis. This would be through a proposed National Biological Data Centre envisaged in a policy called the ‘Biological Data Storage, Access and Sharing Policy’.
  • As the genetic landscape differs across the world, it is necessary that genetic data is shared in order to derive greater knowledge from information and serve the purpose of enabling better treatment outcomes.
  • The GenomeIndia initiative will pave the way for identifying genes and genetic variations for common diseases, treating Mendelian disorders, enabling the transformation of the Precision Medicine landscape in India, and thus improving the healthcare of the general population in our country.
  •  The genome project may answer questions regarding evolution by comparing human DNA with primate DNA.