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.
