3 Bioinformatics and Its Applications in Genomics

David J. Parry‐Smith

Wellcome Sanger Institute, Hinxton, UK

3.1 Significance and Short Background

This chapter introduces the field of bioinformatics, which is a scientific discipline dealing with the analysis of biological data. More specifically, we deal with bioinformatics as it is applied to the field of genomics.

Biological data can take many forms, including DNA, RNA and protein sequence information. It can encompass higher level collections of data and analyses of data. These include databases of structurally and functionally relevant sequence patterns and databases of small molecule ligand binding sites. It can also encompass imaging of a wide variety of processes, including X‐ray diffraction data and images of the three‐dimensional structures of DNA, RNA and protein complexes. New forms of biological data are being generated all the time as new experimental approaches are developed. Analysis of the data derived using these techniques is underpinned by a sound understanding of how bioinformatics relates to the functioning of the cellular machinery, whole organisms (e.g. genetics) and even the evolution of species (e.g. phylogenetics).

Data analysis has always been fundamental to scientific understanding. Observation leads to classification and generalisation. Rules emerge that enable us to explain the way systems behave now and to predict how they may behave in the future. Such systems range from tracking ...

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