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Information systems and Bioinformatics - Current and future possibilities of Medical Informatics

This is a text written by Jon Berg <jon.berg|a|turtlemeat.com> spring 2005 in the Computer Science course Medical Informatics at Tromsø University, Norway.

Current and future possibilities of Medical Informatics

Table of Contents

13. Information systems and Bioinformatics

Bioinformatics is defined as “the study of how information is represented and transmitted in biological systems, starting at the molecular level” (Shortliffe. Perreault. Wiederhold. Fagan. 2000. Medical Informatics. New York: Springer-Verlag.). Bioinformatics deals with understanding the human from the basic levels starting at the molecular level.


Bioinformatics combines techniques from applied mathematics, informatics, statistics and computer science to solve biological problems (Wikipedia. Bioinformatics.). The quantity of information you get from dealing with the human at such this basic levels are very large. A common thread in bioinformatics projects is to use mathematical tools to extract information from noisy datasets. The major research areas in bioinformatics can be categorized in:

  1. Sequence analysis
  2. Genome annotation
  3. Computational evolutionary biology
  4. Gene expression analysis
  5. Protein expression analysis
  6. Analysis of mutations in cancer
  7. Structure prediction
  8. Preserving biodiversity
  9. Modeling biological systems
  10. Other applications


Sequence analysis includes studies of comparing genes in a species or comparing genes between different species. The amount of information that is involved in such an analysis makes it impractical to do such analysis without the help of computers.


Genome annotation is the process of marking genes and other information in DNA sequences. The Ensembl Genome Browser (Ensembl Genome Browser. URL: https://www.ensembl.org/ ) is an application that can be used for this.


Computational Evolutionary biology is the study of the evolution of species. Such studies are done by using computer to trace the evolution of the species by changes in their DNA.


Modeling in biological systems can be used to in analysis and to create visualization of complex processes in cellular subsystems.


The Human Genome project

The Human Genome project is an example of a project in Bioinformatics and would be categorized as a sequence analysis project. It was an international project that was started in 1990 and completed in 2003. The purpose of this project was to determine the sequence of the human DNA. Big endorsers with hundreds of millions of dollars annually for this project were the U.S. government agencies National Institute of Health and the Department of Energy. The goals of the Human Genome (Human Genome Project Information Website. About the Human Genome Project.) project were:

  • Identify all the approximately 20,000-25,000 genes in human DNA.
  • Determine the sequences of the 3 billion chemical base pairs that make up human DNA.
  • Store this information in databases.
  • Improve tools for data analysis.
  • Transfer related technologies to the private sector.
  • Address the ethical, legal, and social issues (ELSI) that may arise from the project.


Technology factors

A factor in the possibility that has opened in bioinformatics is the increase in availability of technology. A part of the reason why it has been possible to do the various projects is because of the increase in capacity and price of technology.


Future of Bioinformatics

Bioinformatics is important in the search for fully understanding the human biology. And a fully understanding of the human biology is importance when searching for new cures for diseases. It is a long way to go before all mysteries of the human biology is understood, but in the near future there are some reachable problems to be solved in bioinformatics. It is possible to go further in the development on the basis of what the Human Genome project has laid. It would be useful to gather multiple human genome sequences. This would help to resolve figuring out what DNA sequences are connected to a certain diseases. It is possible to go further in the investigation of how diseases play out on the molecular level. There is a need for being able to link to the biological experimental data in biological literature. There is also a lot of uncovered ground in the areas of simulation of the human body. It would be desirable to have a computer system that could do a comprehensive simulation of the human body. However a lot of knowledge to be able to complete such a system lacks, such as how molecules associates to form higher level structures, how the to form equations and symbolic relations that describe how the system should interact and last the computational resources that are available are not sufficient to perform such simulations.

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