Chapter 10 - Bioinformatic and Computational Analysis for Genomic Medicine

Abstract

The role for bioinformatics in genomic and personalized medicine is beyond providing a mere service. It enables new and interesting questions to be asked in biomedical, translational, and clinical research. This chapter presents several examples that illustrate the use of specific bioinformatics methods, enabling a revolution of discovery in medical diagnostics, prognostics, therapeutics, anatomy, and nosology. A few specific analytic methods and standardized vocabularies useful in studying and identifying high-bandwidth measurements for genomic and personalized medicine are reviewed. Case examples are based on the conceptualization of pharmacology that can be radically changed through the development and use of biomedical informatics methods. Bioinformatics, coupled with the exponential growth in data collected using high-bandwidth measurement modalities, has the potential to revolutionize the way patients are treated with pharmaceuticals. The service role for bioinformatics in research using the new tools is undeniable. Each of the high-bandwidth modalities yields a sizeable amount of raw data. Distilling these raw data and filtering out measurement noise through the proper use of bioinformatics methods is crucial. Bioinformatics plays an important role in the storage, retrieval, and sharing of these measurements from local and international repositories.