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Home Science & Tech

End to End Genome Sequencing : Telomere to Telomere Consortium

August 5, 2021
in Science & Tech
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End to End Genome Sequencing : Telomere to Telomere Consortium
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On May 27, a preprint titled “The complete sequence of the human genome” was posted in the online repository bioRxiv . In this preprint, scientists from the Telomere-to-Telomere (T2T) Consortium, an international collaboration of around 30 institutions, reported the most complete sequencing of the human genome until now. 

In news: End-to-end genome sequencing
Placing it in syllabus: Science & Technology

Dimensions

  • What is Genome Sequencing?
  • T2T Consortium Project and the Technology used (Sequencing Technology)
  • History of Genome Sequencing Projects 
  • Importance of the project
  • Challenges 
  • Potential uses of Genome Sequencing in general

Content:

What is Genome Sequencing?

  • The genome, or genetic material, of an organism (bacteria, virus, potato, human) is made up of DNA.  This resides in the nucleus of every cell of the organism. 
  • The DNA consists of a double-stranded molecule, each of which is built up by four bases – adenine (A), cytosine (C), guanine (G) and thymine (T). 
  • Every base on one strand pairs with a complementary base on the other strand (A pairs only with T, and C only with G).
  • Each organism has a unique DNA sequence which is composed of bases. Each genome contains all of the information needed to build and maintain that organism. 
  • In humans, a copy of the entire genome—more than 3 billion DNA base pairs—is contained in all cells that have a nucleus.
  • Genome Sequencing is a laboratory procedure that determines the order of DNA nucleotides, or bases (the order of As, Cs, Gs, and Ts) that make up an organism’s DNA  
  • If you know the sequence of the bases in an organism, you have identified its unique DNA fingerprint, or pattern. 

T2T Consortium Project and the Technology used:

  • The Telomere-to-Telomere (T2T) consortium is led by researchers at the National Institutes of Health and the University of California, Santa Cruz
  • It is an international collaboration of around 30 institutions
  • The T2T is an open consortium and all are welcome to join the effort to generate the first truly complete assembly of a human genome
  • It focuses on the first gapless assembly of a human genome, finishing each chromosome from one end to the other
  • The Telomere-to-Telomere (T2T) consortium announced our v1.0 assembly that includes more than 150 Mbp of novel sequence compared to GRCh38, achieves near-perfect sequence accuracy, and unlocks the most complex regions of the genome to functional study. 
  • protein-coding sequences or protein-coding genes are DNA sequences that get transcribed on ribonucleic acid (RNA) as an intermediate step. 
  • These in turn make the proteins responsible for various functions such as keeping the body healthy or determining the colour of the eye — proteins carry out the instructions encoded in the genes.
  • The DNA used did not belong to any person. 
  • According to a report in Nature , it was a cell line derived from a tissue known as a complete hydatidiform mole. 
  • This is the tissue that forms when a sperm inseminates an egg that has no nucleus. Hence, this tissue has the chromosomes of just the father.

History of Genome Sequencing Projects: 

  • The Human Genome Project that began in 1990 gave the first results of the complete human genome sequence in 2003. 
  • For the first time, we were able to read the blueprint of human life. 
  • However, though it was announced as the complete human genome, about 15% of it was incomplete. 
  • Due to limitations of technology, scientists were not able to piece together some repetitive parts of the human genome.
  • Solving some of the problems, an updated “complete” version was released in 2013, which still missed out on 8% of the genome. 

Importance of the project:

One step Closer to Whole Human Genome Mapping:

  • The researchers have nearly completed the job, adding 200 million base pairs and 115 new protein-coding genes to the list.
  • They have, in the process, discovered over a hundred new genes that code for proteins. The total size of the genome they have sequenced is close to 3.05 billion base pairs. 
  • This adds 200 million base pairs to the last draft of the human genome that was published in 2013. 
  • With this, we are a step closer to mapping the whole human genome.

Standard of Reference:

  • One of the most important uses of this release will be that it forms a standard for comparison in future sequencing attempts
  • This sequence of the human genome will be a gold standard of reference for future attempts.

Unprecedented Level of Accuracy:

  • The level of accuracy is unprecedented. 
  • Earlier, Researchers were trying to piece together strands of DNA that were a few hundred base pairs long. 
  • The technology used by the Telomere-to-Telomere Consortium used sequencing technology that could scan 20,000 base pairs at one go. This is a significant technological feat.

Challenges: 

Missing Y- Chromosome Data: 

  • The present release has no information about the Y chromosome.
  • All chromosomes in an arbitrary cell’s nucleus are found in pairs – we have 23 pairs of chromosomes in each cell. 
  • However, the sex cells such as sperm and egg cells contain only one of each pair of chromosomes (haploid cells).
  •  So, while egg cells always carry a copy of the X chromosome, sperms can carry either an X chromosome or a Y chromosome. 
  • The cell line that the researchers studied had an X chromosome only and no Y chromosome. Therefore, information about the Y chromosome is missing in this release.

Chances of Errors:

  • It is also not 100% complete. The researchers say that about 0.3% of the genome may have errors.

Potential uses of Genome Sequencing in general:

Predictive medicine:

  • The primary purpose of sequencing one’s genome is to obtain information of medical value for future care.
  • genome sequencing has the potential to increase the ability to act preemptively prior to disease development or commence treatment for a disease that has not yet been diagnosed. 

Drug Efficacy Studies (pharmacogenomics):

  • Another advantage of genome sequencing is that information regarding drug efficacy or adverse effects of drug use can be obtained. 
  • The relationship between drugs and the genome is called pharmacogenomics.

Discovering Gene Mutations:

  • genome sequence does not change unless influenced by environmental factors, for example, in the development of many cancers
  • Genome sequencing can help discovery of rare or novel variants.
  • This point can be illustrated by considering BRCA gene mutations, which confer a high risk of breast and ovarian cancer development in women. 
  • Early discovery of these mutations provides options for prophylactic action.

Mould your thought: What is genome sequencing? With reference to the recent efforts, discuss the importance of Human Genome Sequencing.

Approach to the answer:

  • Introduction 
  • Define Genome Sequencing
  • Discuss the T2T consortium results 
  • Discuss the potential uses of genome sequencing
  • Conclusion
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Source: The Hindu
Tags: GS-3MainsNews Paper

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