Genomics 101: What is bioinformatics?

In this series, ‘Genomics 101’, we go back to basics and explore some of the most important topics in genomics. In this blog, we explain the term ‘bioinformatics’, and how it is used in health research. 

First things first, what is bioinformatics? 

Bioinformatics is a field that combines computer science with biology.  

It uses the technologies and computer skills needed to collect, store and analyse data, and applies to them to sets of biological data. 

This biological data could include DNA sequences, or other information about someone's genes - as well as clinical data, such as a person’s medical history or test results. 

What is bioinformatics used for? 

Bioinformatics has a wide range of uses across biology and medicine. One area it has particular value is genomics - the study of the genome. 

The human genome is our entire sequence of DNA. It is made up of billions of letters that form the instruction manual for our bodies. Cells in our body can read this sequence of letters, almost like reading a book, and produce the proteins we need to survive.  

Sequencing someone’s genome can help us find valuable information about their health.  

If someone has a suspected genetic condition, genomic testing can help us to find a precise genetic diagnosis, as well as helping us understand how to treat the condition as effectively as possible.  

However, despite the value of genomic sequencing, there are some challenges. Namely, the huge amounts of data involved can be difficult to properly store and analyse, and that’s where bioinformatics comes in. 

Do you have specific examples of where bioinformatics is used? 

Sure! Bioinformatics is used in lots of ways at Genomics England. 

One of these ways includes the Cancer Short Reads pipeline.  

A data pipeline is a series of steps used to process and analyse large volumes of data. The Cancer Short Reads pipeline does this with genomic data from people affected by cancer, who have volunteered their data to the National Genomic Research Library.  

This pipeline is essential, as it allows us to detect genetic changes that may be driving cancer. It also sorts these changes into ones that have been inherited from parents, and ones that have developed on their own. 

This kind of information supports accurate diagnosis, helps predict how a cancer may progress, and informs personalised treatment decisions for each patient. 

So then, what does a bioinformatician actually do? 

Broadly speaking, bioinformaticians all play a role in creating, maintaining, or sorting through large sets of biological data. 

Some tasks they might do include writing computer code, carrying out risk assessments, collaborating with researchers, and rigorously testing pipelines to make sure everything is working correctly and efficiently. 

However, there are many different specific types of bioinformaticians, and each of them specialise in slightly different areas.  

If you want to learn more about the day-to-day responsibilities of bioinformaticians, you can check out our previous blogs: What does a Bioinformatics Engineer do? And What does a Clinical Bioinformatician do?