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Bioinformatics is the field of science in which biology, computer science, and information technology merge to form a new discipline. The ultimate goal of the field is to enable the discovery of new biological insights as well as to create a global perspective from which unifying principles in biology can be discerned.


At the beginning of the "genomic revolution", a bioinformatics goal was the creation and maintenance of a database to store biological information, such as nucleotide and amino acid sequences.

Development of this type of database involved not only design issues but also the development of complex interfaces whereby researchers could both access existing data as well as submit new or revised data.

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Pacific Northwest National Laboratory

This genetic data represents a treasure trove for researchers and companies interested in how genes contribute to our health and well-being. Almost half the genes identified by the Human Genome Project have no known function. Researchers are using bioinformatics to identify genes, establish their functions, and develop gene-based strategies for preventing, diagnosing, and treating disease.


Why Is Bioinformatics So Important?

Major breakthroughs in bioinformatics allow the vast amounts of data that are collected from these studies to be analyzed in a way that clarifies complex patterns. Computers and bioinformatics software are the tools of the trade.

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These studies start with biospecimens from:

  • Cheek (buccal) swabs
  • Blood
  • Urine
  • Tissue

The samples are then preserved, processed, and analyzed using a variety of techniques.

Image courtesy of The National Human Genome Research Institute:

The field of bioinformatics has evolved enough so that the most pressing task now involves the analysis and interpretation of various types of data, including nucleotide and amino acid sequences, protein domains, and protein structures. The actual process of analyzing and interpreting data is referred to as computational biology.

The rationale for applying computational approaches to facilitate the understanding of various biological processes includes:

  • A more global perspective in experimental design, and
  • The ability to capitalize on the emerging technology of database-mining - the process by which testable hypotheses are generated regarding the function or structure of a gene or protein of interest by identifying similar sequences in better characterized organisms.


Finding Genes

One of the most important aspects of bioinformatics is identifying genes within a long DNA sequence. Until the development of bioinformatics, the only way to locate genes along the chromosome was to study their behavior in the organism (in vivo) or isolate the DNA and study it in a test tube (in vitro).


Bioinformatics allows scientists to make educated guesses about where genes are located simply by analyzing sequence data using a computer.

This image is a map of the human X chromosome showing genes.

Image courtesy of the NCBI - The National Center for Biotechnology Information


Protein Modeling

The process of evolution has resulted in the production of DNA sequences that encode proteins with specific functions. In the absence of a protein structure that has been determined by X-ray crystallography or nuclear magnetic resonance (NMR) spectroscopy, researchers can try to predict the three-dimensional structure using protein or molecular modeling.

This method uses experimentally determined protein structures (templates) to predict the structure of another protein that has a similar amino acid sequence (target).



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