Detection Methods in Precision Medicine
CHAPTER 6: Detection of Disease-associated Mutations and Biomarkers Using Next-generation Sequencing
Published:10 Dec 2020
Special Collection: 2020 ebook collectionSeries: Detection Science
J. Yan and X. Wang, in Detection Methods in Precision Medicine, ed. M. (. Yang and M. Thompson, The Royal Society of Chemistry, 2020, pp. 117-136.
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Next-generation sequencing is a fast-developing field that accelerates the pace of functional genomics. In precision medicine, it enables quick and precise identification of causal mutations and dramatically improves clinical outcome. In this chapter, we will review the next-generation-sequencing-based technologies and strategies for detection of disease-associated mutations and identification of novel biomarkers that can be used in precision medicine. We will cover topics in detection of genomic mutations in protein coding regions and non-coding regulatory elements, detection of circulating tumor DNA, and studies of human and microbiome interactions, as well as applications of bioinformatics in biomarker detection and identification.