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Role of Bioinformatics in Molecular Medicine

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Genomic Medicine

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Abstract

The increased clinical adoption of next-generation sequencing (NGS) has led to widespread application of bioinformatics approaches for data analytics. Laboratories have largely adopted custom solution implementations of various analysis steps that are tied together and referred to as a bioinformatics workflow or pipeline. This chapter discusses the high-level approaches that have become the standard for clinical bioinformatics, including details on the file structure, conceptualizing the algorithmic processes, and regulatory considerations. We also discuss some of the tools that are becoming more commonly implemented and are likely to become standard components of many laboratories.

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Author information

Authors and Affiliations

  1. Department of Pathology, Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Chad Vanderbilt & Sumit Middha

Authors
  1. Chad Vanderbilt
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  2. Sumit Middha
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Correspondence to Chad Vanderbilt .

Editor information

Editors and Affiliations

  1. Dartmouth–Hitchcock Medical Center, Lebanon, NH, USA

    Laura J. Tafe

  2. Memorial Sloan Kettering Cancer Center, New York, NY, USA

    Maria E. Arcila

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Vanderbilt, C., Middha, S. (2020). Role of Bioinformatics in Molecular Medicine. In: Tafe, L., Arcila, M. (eds) Genomic Medicine. Springer, Cham. https://doi.org/10.1007/978-3-030-22922-1_4

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  • DOI: https://doi.org/10.1007/978-3-030-22922-1_4

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  • Publisher Name: Springer, Cham

  • Print ISBN: 978-3-030-22921-4

  • Online ISBN: 978-3-030-22922-1

  • eBook Packages: MedicineMedicine (R0)

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