Genomics and Clinical Diagnostics
5: Introductory Bioinformatics
Published:29 Jan 2019
Increasing amounts of molecular sequence data has produced challenges for computational biology and database management. This chapter introduces some of the key bioinformatics database resources and programs that have become pivotal to the progression of many branches of biological and medical sciences. Primary nucleic acid and amino acid sequence databases, such as GenBank and UniProt, are described along with more specialised databases, such as COSMIC and InterPro, that have been developed to address specific areas, such as cancer biology and protein family analysis. Parallel developments in textual knowledgebases, such as OMIM, and search tools, such as PubMed, enable the ready integration of experimental data with current medical and basic research and applications. Analytical software suites, such as BLAST and Align, are described which enable DNA or amino acid sequences to be searched against all known molecular sequences. Applied bioinformatics in the research laboratory is discussed in the context of the PCR. All of the database resources and software tools described in the chapter are freely available and generally simple to use.