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Bioinformatics 

Bioinformatics
Chapter:
Bioinformatics
Author(s):

Afzal Chaudhry

DOI:
10.1093/med/9780198746690.003.0011
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date: 02 March 2021

Bioinformatics may be defined as ‘conceptualizing biology in terms of molecules and applying “informatics techniques” (e.g. applied mathematics, computer science and statistics) to understand and organize the information associated with these molecules, on a large scale’. Clinical bioinformatics may be defined as ‘the clinical application of bioinformatics-associated sciences and technologies to understand molecular mechanisms and potential therapies for human diseases’. If clinical bioinformatics is to deliver the integration of molecular and clinical data and thereby translate research knowledge into effective ‘personalized’ medicine, then two broad constituencies need to be supported. Clinicians at the point of care need to understand and integrate, perhaps via decision support mechanisms, entities such as genotype/phenotype correlations, biomarker discovery, and pharmacogenomics; while researchers require accurate, structured, and (ideally) coded clinical data, as well as biological reference data sets.

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