Bioinformatics in Precision Medicine

Abstract

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.

Keywords: Bioinformatics, Data science, Genomics, Metabolomics, Proteomics, Transcriptomics.

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