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What is bioinformatics? A proposed definition and overview of the field

Author(s): LuscombeNM, Greenbaum D,Gerstein M

Abstract

Background: The recent flood of data from genome
sequences and functional genomics has given rise to
new field, bioinformatics, which combines elements
of biology and computer science.
Objectives: Here we propose a definition for this
new field and review some of the research that is
being pursued, particularly in relation to transcriptional
regulatory systems.
Methods: Our definition is as follows: Bioinformatics
is conceptualizing biology in terms of macromolecules
(in the sense of physical-chemistry) and then applying
“informatics” techniques (derived from disciplines
such as applied maths, computer science, and statis-
tics) to understand and organize the information
associated with these molecules, on a large-scale.
Results and Conclusions: Analyses in bioinformatics
predominantly focus on three types of large datasets
available in molecular biology: macromolecular struc-
tures, genome sequences, and the results of function-
al genomics experiments (eg expression data).
Additional information includes the text of scientific
papers and “relationship data” from metabolic path-
ways, taxonomy trees, and protein-protein interaction
networks. Bioinformatics employs a wide range
of computational techniques including sequence and
structural alignment, database design and data
mining, macromolecular geometry, phylogenetic tree
construction, prediction of protein structure and
function, gene finding, and expression data clustering.
The emphasis is on approaches integrating a variety of
computational methods and heterogeneous data
sources. Finally, bioinformatics is a practical discipline.
We survey some representative applications, such as
finding homologues, designing drugs, and performing
large-scale censuses. Additional information pertinent
to the review is available over the web at
http://bioinfo.mbb.yale.edu/what-is-it.

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