What is Bioinformatics?
When bioinformaticians talk to people from other fields, the first questions are usually “What is that?” and “What do you do?”. Below you will find a rough overview of the field and its relevance.
The Field
Section titled “The Field”Let’s first look at the definition from Wikipedia:
Bioinformatics is an interdisciplinary field that develops methods and software tools for understanding biological data, especially when the data sets are large and complex. Bioinformatics uses biology, chemistry, physics, computer science, computer programming, information engineering, mathematics and statistics to analyze and interpret biological data. The subsequent process of analyzing and interpreting data is referred to as computational biology. Important sub-disciplines within bioinformatics and computational biology include:
- Development and implementation of tools that enable efficient access to, and use and management of, various types of information
- Development of new algorithms (mathematical formulas) and statistics with which to assess relationships among members of large data sets
- Analysis and interpretation of various types of data, including nucleotide and amino acid sequences, protein domains, and protein structures
- Development and implementation of tools that enable efficient access to, and use and management of, various types of information
In general, bioinformatics thus represents a bridge science between biology, medicine, and computer science. In modern biology and medicine, large amounts of data are generated:
- Sequence data (DNA sequencing, RNA sequencing, …)
- Images from imaging techniques (MRI, CT, microscopy)
- Spectra from mass spectrometry
- Protein structure data from X-ray crystallography and similar methods
The amount of data is usually far too large to be evaluated “by hand”. Therefore, computational methods are necessary to draw insights from them. People with a pure computer science background often lack the biological understanding to properly represent biology. As a bioinformatician, you are able to understand the biological background of the data and find and apply the optimal computational algorithms to solve a biological question.
Possible Research Questions
Section titled “Possible Research Questions”Bioinformatics distinguishes between different levels of biology. Many bioinformatics problems can be assigned to one of these levels. Below you will find an overview of the most important levels and possible research questions:
Genomics
Section titled “Genomics”Genomics deals with the analysis of genomes. A genome is the complete set of genetic information of an organism. Genomics is concerned with the analysis of genome sequences, the identification of genes and regulatory elements, the analysis of genome variations, and the analysis of genome structures.
Possible research questions:
- Where are genes located in the genome?
- What is the function of regulatory elements?
- Which mutations are responsible for a disease?
Transcriptomics
Section titled “Transcriptomics”Transcriptomics deals with the analysis of transcriptomes. A transcriptome is the complete set of RNA molecules expressed in a cell or tissue at a specific time.
Possible research questions:
- Which genes are expressed in a cell or tissue?
- How does gene expression change under different conditions?
- Which genes are involved in a specific biological process?
- How do different RNA molecules interact with each other?
Proteomics
Section titled “Proteomics”Proteomics deals with the analysis of proteins. Proteins can be considered as the “worker molecules” of a cell that perform most functions in a cell. Using methods such as mass spectrometry and protein structure analysis, proteins can be identified and characterized.
Possible research questions:
- Which proteins are present in a cell or tissue?
- How do proteins interact with each other?
- What structure do proteins have?
Metabolomics
Section titled “Metabolomics”Metabolomics deals with the analysis of metabolites. Metabolites are small molecules that occur as intermediates and end products of metabolism in a cell or organism. Similar to proteins, they can be identified and characterized using methods such as mass spectrometry.
Possible research questions:
- Which metabolites are present in a cell or tissue?
- How does metabolism change under different conditions?
- Which metabolic pathways are active in a cell?
Microbiomics
Section titled “Microbiomics”Microbiomics deals with the analysis of microbiomes. A microbiome is the complete set of microorganisms that occur in a specific habitat. For example, the human microbiome consists of bacteria, viruses, and fungi that live on the skin, in the gut, and in other body regions.
Possible research questions:
- Which microorganisms are present in a specific habitat?
- How does the microbiome change under different conditions?
- What role do microorganisms play in health and disease?