Genome and Genomics: Genome Sequencing & Applications

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Genomes are the foundational units of all living organisms. It contains the entire genetic information of an organism, which helps to gain a deeper understanding of the way an organism functions at the genetic level. The study of Genomes and Genomics began in the 20th Century and is responsible for life-altering developments in the field of Bioinformatics and Bioanalytics. 

Genome is a topic in Unit 2 Genetics and Evolution Chapter 6 Molecular Basis of Inheritance. There are no portions deleted from this chapter. Other important topics include -

  • Structure of DNA and RNA
  • Lac Operon
  • Human and Rice Genome Projects
  • DNA Fingerprinting

Read about: Internal Formation of Zygote

Key Terms: Genomics, Genome, Genome Sequencing, DNA Figerprinting, Genetic Variations, DNA, RNA, Chloroplast


Genome

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The word Genome arrives as a branch for the roots of molecular biology and genetics. Molecular Biology means the study of biology that is concerned with the molecular activities in and between the cells. Genetics is the study of genes, heredity in organisms, genetic variations. Gene structure and functions are understood within the context of a cell. Hence, every genetic material present in an organism is called a Genome. There are about 20,000 genes in the human genome. They contribute 1-5% of our genome. Gene regulation is enabled by the DNA that binds the genes.

A unique genome is found in every living organism. For a particular organism, the Genome is the full series collection of genetic instructions just like a recipe. Each genome includes all the knowledge necessary for an organism to bring life into being and keeping it intact resulting in the growth and evolution of the organism. The human genome consists of 3.2 billion bases of DNA and the genome in viruses consists of RNA. Moreover, Genome comprises both the genes which are generally known as the coding genes and the noncoding DNA. Other than that mitochondria DNA and Chloroplast DNA are also found in it.

Read More: Molecular Basis of Inheritance


The Human Genome Project 

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In the year 1990, a huge effort to sequence the human genome was initiated. The DNA sequences determine an organism's or individual's genetic build. If two people are different, their DNA sequences should be different as well, at least in certain areas. This hypothesis inspired the search for the human genome's full DNA sequence. With the development of genetic engineering techniques allowed anybody to extract and replicate any piece of DNA, as well as the availability of easy and quick criteria for estimating DNA sequences. This mega project was successfully completed in the year 2003 by sequencing the whole human genome by 3.3 billion pairs. This might solve the mystery of several human disorders by providing a way to cope up with them, leading to the growth of the vast field of Bioinformatics.


Goals of Human Genome Project 

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  • Addressing the project's ethical, legal, and social problems (ELSI).
  • Better types of equipment and tools for data analysis.
  • Expand the range and transfer relevant technologies to other markets such as industries.
  • Storing the genome sequence data into databases.
  • Identifying every kind of gene in human DNA and sequencing the chemical base pairs that compose the human DNA. 

Read More: Important Difference Between DNA and RNA


Features of Genome Sequencing 

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  • A human genome has 3164.7 million nucleotide bases.
  • The largest known human gene named dystrophin has 2.4 million bases. 
  • Approximately all nucleotide bases are totally the same in all people. Thus, the estimated total number of genes is 30,000 (50% of which functions are unknown) 
  • The majority of the genome is made up of repeating sequences that have no unique coding function, but such redundant codes will help us better understand humanity's genetic evolution over time.

Applications and Future Challenges

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In the past, researchers used to study each gene at a time but now if any human disease arises due to alteration in a gene, the genome database we have will help them to cure it quickly and efficiently.

Using DNA sequences to derive meaningful information will characterize science in the coming decades, contributing to a better understanding of biological processes. This massive undertaking would probably require the skills and ingenuity of tens of thousands of scientists from various backgrounds working in both the public and private sectors around the world. One of the most significant advantages of getting the Human Genome sequence is that it can allow this new approach to biological research. When compared to normal cells, the genome of tumor cells is changed. The approach towards the treatment of cancer has transformed due to the analysis of genomes of normal cells as compared to cancer cells. 

Read More: Structure of RNA


Genomics 

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The study of Genomes is the analysis of an organism's whole genome, which includes genetic components. The study of a person's genes and their interactions with one another and the world is known as genomics. The structure and function of genomes were sequenced, assembled, and analyzed using a mixture of recombinant DNA, DNA sequencing techniques, and bioinformatics. It considers an organism's whole gene collection rather than just one gene or gene product.


Applications 

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Genome being a sequence of DNA which is sequenced by certain machines that help in identifying the cause of the particular problem in hand. Diseases might occur due to variations in DNA and sequencing the genome helps to identify which DNA changing is causing the problem.

In the areas of bioengineering and biotechnology, genomics has a range of uses. The gene from Mycoplasma genitalium was used to construct the Mycoplasma laboratorium.

Oral plant vaccines that stimulate immunity are made with DNA and transgenes. Precision medicine uses knowledge about a patient's genetic makeup to direct the care they get.

The Genome sequencing influencing biodiversity conservation also facilitates the study of evolutionary mechanisms and the identification of genetic patterns in a given population. Analysis of these patterns may assist in the implementation of conservation strategies of the species.

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Sample Questions Based on Genomes and Genomics

Ques: What is Genome sequencing and how is it useful? (1 mark)

Ans. Genome sequencing is often understood as decoding, the sequences might be just like that string of letters in a mysterious language. As a result, sequencing a genome would not instantly reveal a species' genetic secrets. Despite getting a preliminary draft of the human genome sequence in hand, there is still a lot of work to be completed. The working scientists yet have to translate them into understanding the working of genome sequences.

Ques: What is the difference between Genetics and Genomics? (1 mark)

Ans. Genetics is the study of an organism's heredity of traits and their differences within a species, with an emphasis on gene behavior. Genomics, on the other hand, is the analysis of genomes, including an organism's whole collection of genetic material, and it specializes in the entire genome.

Ques: . What are the drawbacks of the Human Genome Project (HGP)? (3 marks)

Ans. There drawbacks of the Human Genome Project are: 

  • It has the potential to be the cornerstone of genetic prejudice.
  • It could lead to a lack of human diversity.
  • It has the potential to become a trend among “designer” humans.
  • It will be more available to communities of affluence.
  • Its data may be used to build new weapons.

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