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What is bioinformatics?

Updated: Nov 27, 2023

The science behind bioinformatics and its future application, such as cancer treatment. Click this link to read more about it!

Introduction

Bioinformatics is an interdisciplinary field of biology and data science. Bioinformatics uses software and computer programming tools to organise and analyse enormous amounts of biological data and information, such as DNA and amino acid sequences or annotations about those sequences.


In 2013, the Human Genome project was completed, and it took about 13 years to write down all the sequences of human DNA. This means that it will take thousands of years to compare and analyse the genomes of humans and other organisms. One gene may have thousands of base pairs long and any organism may have many thousands of genes. This is why bioinformatics is necessary to compile and store all the possible information gained from many species.

Figure 1 - Human Genome Sequence


How does bioinformatics work?

In general, scientists use bioinformatics to collect data about RNA sequence and protein folding. The genetic code is universal. However, all living organisms are unique because different genes are expressed in different organisms. By collecting the genome sequence of different species using computer programming, we can exactly search which of the genes are similar between the two species. This is how scientists figure out which organisms are closely related.


Bioinformatics also help us to understand human diseases. To find a correlation between a gene and a specific disease, scientists compare the gene sequence of a group of healthy people and a group of people with that disease. Moreover, doctors use bioinformatics to find out the level of gene expression of the receptors in a patient so that they can find out which drug works best for this patient.


1. Using bioinformatics to treat cancer

Bioinformatics is widely used in the diagnosis and treatment of cancer. By comparing the normal genome and the genome of tumour cells, doctors can find out which of the mutations are causing cancer cells to divide uncontrollably.


What is next?

In the future, it is expected that genome sequencing will be available to everyone with the help of bioinformatics while preserving the privacy of patients. Bioinformatics will help scientists and doctors to understand more about the function of genes thus providing positive outcomes for treatments of diseases.


Citations

1. Luscombe, N. M., Greenbaum, D., & Gerstein, M. (2001). What is bioinformatics? An introduction and overview. Yearbook of medical informatics, 10(01), 83-100.

2. Luscombe, N. M., Greenbaum, D., & Gerstein, M. (2001). What is bioinformatics? A proposed definition and overview of the field. Methods of information in medicine, 40(04), 346-358.

3. Blackshaw, James. “What Is Bioinformatics and How Do We Use It?” @Yourgenome · Science Website, 21 Feb. 2022, www.yourgenome.org/facts/what-is-bioinformatics-and-how-do-we-use-it/. ‌


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