What is Bioinformatics? History of Bioinformatics The Science - Bioinformatics Applications Examples of Common Bioinformatics Tools Bibliography

Major changes in the field of biology have taken place over the last few decades. Advances in biotechnology and accomplishments such as the mapping of the entire human genome and the genomes of many other organisms are producing a better understanding of biological systems and living organisms. Large amounts of biological information and data have been and continue to be generated through this research. Bioinformatics arose from the need to organize, store, and analyse this information.

What is Bioinformatics?

Bioinformatics is the use of computer software and programs to organize, store and analyse biological information and data to better understand biological systems. It is the field of science where biology, computer science and information technology converge as a single discipline.

Researchers use advanced computer and statistical techniques to wade through and analyse large amounts of biological data created through modern biotechnologies referred to as the "omics" technologies – such as genomics and proteomics.

These "omics" technologies focus on different aspects of biological systems. For example:

• Genomics is the analysis of the entire genetic make-up of an organism. It includes a study of the functions of genes in cells, organs and organisms.
  
  
• Proteomics focusses on the total protein make-up of a cell at any given time.

These "omics" technologies generate massive amounts of biological data through which it would be impossible to navigate without the use of computer systems. The data includes sequences of amino acids and nucleotides that underlie genes and proteins.

The goal of bioinformatics is to translate the complex data gathered into usable knowledge.

Bioinformatics typically includes three main areas:

• Developing new statistics and data to be studied and used to assess relationships among the different sets of biological data.
  
  
• Analysing and interpreting the various types of data, which include nucleotide and amino acid sequences and the properties of various proteins.
  
  
• Developing and implementing tools to enable efficient access and management of different types of pertinent information.

History of Bioinformatics

The field of bioinformatics emerged in the early 1980s with the creation of the GenBank database. GenBank, started by the US Department of Energy, stores DNA sequence information obtained from a wide range of organisms. In the early days, GenBank was a small scale operation with a roomful of technicians sitting at keyboards entering the DNA sequence information published in academic journals.

The advent of the Internet allowed researchers to access data in GenBank from all over the world for free. The DNA sequence data in GenBank grew rapidly with the emergence of highly sophisticated gene sequencing tools. Private companies joining the sequencing race with parallel projects created huge databases of their own.

Several services emerged as the need for access to bioinformatics increased. The two most significant were the European Molecular Biology Network (EMBnet) and the United States National Center for Biotechnology Information (NCBIO).

In Canada, the Canada Institute for Scientific and Technical Information (CISTI) of the National Research Council of Canada (NRC) operated a bioinformatics server, Molecular Biology Database Service (MBDS), from 1987 to 1996. The Canadian Bioinformatics Resource (CBR) was created in 1995 to replace MBDS in providing bioinformatics resources and services to Canadian researchers.

The Science - Bioinformatics Applications

Most bioinformatics tools currently available deal with the structural and functional aspects of genes and proteins – looking at what genes and proteins look like, where they are located and what they do.

Applications of bioinformatics allow researchers to accomplish the following:

• Compare mapped genomes of any species to identify similarities and differences among organisms.
  
  
• Researchers can access genetic information from around the world. Various searchable databases, many of which are on the Internet, are used to identify DNA sequences of identified genes.
  
  
• Databases also allow quick access to information about proteins. Researchers retrieve a sequence using a protein name, or retrieve a protein using the amino acid sequence.
  
  
• Sequence translation programs enable users to analyse nucleotide sequences. The programs convert the DNA sequences into protein sequences or protein sequences into their complementary DNA (cDNA).
  
  
• Sequencing tools are used by bioinformatists to find out more about the characteristics of genetic material, including proteins. Once the protein sequences are analysed, the researchers can use software programs to search databases to find similar sequences. Other programs allow researchers to look at the three-dimensional shape of the proteins and nucleotides. Since shape is a critical determinant of function, these programs allow researchers to gain clues for identifying the roles of the sequences.

Examples of Common Bioinformatics Tools

Data produced through research from all over the world is collected and organized in databases specialized in individual subjects. Computational tools are used to efficiently analyse this data. Many areas of bioinformatics focus on predicting the biological functions of genes, proteins, and their parts based on the structural data compiled.

Examples of commonly used tools include:

• BLAST (Basic Local Alignment Search Tool) -- This tool allows researchers to identify similarities between their own nucleotide or protein sequence with those in the public databases. It is used to identify whether a given sequence is new, similar to a known sequence (e.g. other proteins), or contains specific protein characteristics which may give a clue to the possible role of the sequence.
  
  
• OMIM (Online Mendelian Inheritance in Man) -- This database contains information about human genes and genetic disorders already mapped in the human genome. Typically, the information contained includes a summary of each disease, including symptoms, genetic mapping information, related references, and a direct link to the DNA sequence in GenBank if the gene responsible for the disease has been cloned. It also contains mapping information on genes not yet linked to diseases.
  
  
• GeneMap98 -- This database lists genes mapped in the human genome. It is helpful to researchers who are looking to identify genes for diseases with simple traits or symptoms since the map can display genes within a location defined by the user.

Bibliography

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