Uses of Bioinformatics in Genome Analysis

Uses of Bioinformatics in Genome Analysis
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  • 0:02 Bioinformatics
  • 1:37 History of Bioinformatics
  • 3:25 Gene Annotation
  • 4:26 Data Banks
  • 5:49 Lesson Summary
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Lesson Transcript
Instructor: Christopher Muscato

Chris has a master's degree in history and teaches at the University of Northern Colorado.

There is a lot of data within a genome, so how do we even begin to process it? In this lesson, we are going to check out the field of bioinformatics and discover how we can use it to help locate and analyze gene sequences.


Imagine that you want to read the encyclopedia. Don't ask why, maybe you just need a new hobby. You start to read the encyclopedia, but then realize that it's really long, really dense, and there's a lot of information in there. To make sense of any of it whatsoever, you need a way to organize it. What words have Latin roots, which are Germanic, which are nouns or verbs? By analyzing this vast collection of knowledge following certain criteria, you can start to make sense of it.

Now, not many people are really that interested in reading encyclopedias; however, many people are interested in reading genetic information. In fact, there's an entire field of study focused on it. Bioinformatics is the branch of biology devoted to finding, analyzing, and storing information within a genome. A genome, by the way, is the collective DNA sequences for each chromosome within an organism.

For example, human cells all contain 23 pairs of chromosomes. Within those 23 pairs is the complete set of DNA for that individual, composed of roughly 3 billion base pairs, which are the combinations of acids that form the rungs of the DNA double helix. Various combinations of base pairs create different genes, which create different parts of the body. So, there's a lot of information in there, and trying to just read it without an organized system would be like trying to count the number of words in the English language one at a time.

History of Bioinformatics

Now, before we get into how we use bioinformatics, let's talk a bit more about what this field is and where it comes from. In the 1980s, researchers began using computers to help them compile complete sequences of various genomes. Some were simpler that others; many bacteria, for example, only have one chromosome. But in 1990, scientists began a massive undertaking with the Human Genome Project, a research project to map out the entire human genome. Humans are quite a bit more complex than bacteria, and it soon became obvious that better systems of organization and better software for sequencing were needed. That's when bioinformatics as a field really took off. As of 2015, researchers have sequenced the complete genomes of over 165,000 different organisms, totaling over 100 billion different base pairs.

So, what do we do with all of this data? We try to figure out what the genes do. Nearly half of the genes discovered by the Human Genome Project are unidentified, which means that we don't actually know what they do in the body. But obviously they're still important. By comparing genes found in humans to genes found in other species, we can begin to figure out what they do, how they're related to other genes, and where they come from.

Then, once we identify the purpose of a gene, we can turn it over to medical researchers who examine how this gene affects health. For example, when the gene that is responsible for muscular dystrophy was discovered, it opened up new potential solutions for curing this disease. Knowing where genetic conditions are located within an individual's DNA can help us treat it.

Gene Annotation

Okay, so how exactly does this work? The process of identifying genes, determining their function, and recording their position is known as gene annotation. Think back to that encyclopedia example. If you were trying to organize the English language, you would need to annotate the encyclopedia, to make notes, and highlight words, etc. The same principle applies here.

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