Bioinformatics in Precision Medicine
- Authors: James Reigle1, Phillip J. Dexheimer2, Behrouz Shamsaei3, Alexander Thorman4, Somchai Chutipongtanate5, Jarek Meller6
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View Affiliations Hide Affiliations1 Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH, United States 2 Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH, United States 3 Department of Environmental and Public Health Sciences, University of Cincinnati, Cincinnati, OH, United States 4 Department of Environmental and Public Health Sciences, University of Cincinnati, Cincinnati, OH, United States 5 Department of Cancer Biology, University of Cincinnati College of Medicine, Cincinnati, OH, United States 6 Department of Biomedical Informatics, University of Cincinnati College of Medicine, Cincinnati, OH, United States
- Source: Recent Advances in Molecular and Translational Medicine: Updates in Precision Medicine , pp 17-42
- Publication Date: December 2021
- Language: English
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Bioinformatics plays an essential role in precision medicine. By developing analytical and computational frameworks, bioinformatics identifies and analyzes gene variants, altered patterns of transcripts and proteins, as well as other omics profiles generated by high-throughput platforms. The big data generated from biological samples require scalable algorithms, efficient computational workflows, and tools for interpretations. Precise diagnoses can be made upon identifying a particular pathogenic variant/mutation. Candidate (or actionable) targets for precise treatment can be obtained by analyzing molecular expression profiles from the disease states. This chapter describes the basis of bioinformatics and common workflows used to analyze and interpret omics datasets for precision medicine. This chapter also serves as the introduction to genomics, transcriptomics, proteomics, and metabolomics profiling, and thus complements other omics related chapters within this book.
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