An overview of DNA analytical methods

Valerie A. Arboleda, Rena Xian

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

The development of rapid parallel sequencing in the last 20 years has begun a revolution in the field of genetics that is changing nearly all disciplines within biology and medicine. Genomic sequencing has become crucial to the diagnosis and clinical management of patients with constitutional diseases and cancer and has quickly become an integral part of the new era of personalized and precision medicine. The precision medicine initiative, released by the NIH in 2015, has catapulted genomic technologies to the forefront of the practice of medicine and biomedical research. This chapter focuses on the core technologies driving the genomic revolution from first generation (Sanger) sequencing to microarray-based technologies, to second, commonly referred to as next-generation sequencing (NGS) methods, and finally to the emerging third generation technologies capable of performing single-molecule and long-read sequencing. The goal of the chapter is to provide a broad overview of these methods of DNA analysis and highlight their strengths and weaknesses. Furthermore, with a knowledge of the different mutation types, we seek to provide the basis for understanding how these technologies work, and can be adopted, to explore other type of nucleic acids and epigenetic changes.

Original languageEnglish (US)
Title of host publicationMethods in Molecular Biology
PublisherHumana Press Inc.
Pages385-402
Number of pages18
DOIs
StatePublished - Jan 1 2019

Publication series

NameMethods in Molecular Biology
Volume1897
ISSN (Print)1064-3745

Fingerprint

Precision Medicine
Technology
DNA
Medicine
Epigenomics
Nucleic Acids
Biomedical Research
Mutation
Neoplasms

Keywords

  • Bioinformatics
  • DNA
  • Illumina
  • Ion torrent
  • Microarray
  • Nanopore
  • Next-generation sequencing (NGS)
  • RNA
  • Sequencing

ASJC Scopus subject areas

  • Molecular Biology
  • Genetics

Cite this

Arboleda, V. A., & Xian, R. (2019). An overview of DNA analytical methods. In Methods in Molecular Biology (pp. 385-402). (Methods in Molecular Biology; Vol. 1897). Humana Press Inc.. https://doi.org/10.1007/978-1-4939-8935-5_31

An overview of DNA analytical methods. / Arboleda, Valerie A.; Xian, Rena.

Methods in Molecular Biology. Humana Press Inc., 2019. p. 385-402 (Methods in Molecular Biology; Vol. 1897).

Research output: Chapter in Book/Report/Conference proceedingChapter

Arboleda, VA & Xian, R 2019, An overview of DNA analytical methods. in Methods in Molecular Biology. Methods in Molecular Biology, vol. 1897, Humana Press Inc., pp. 385-402. https://doi.org/10.1007/978-1-4939-8935-5_31
Arboleda VA, Xian R. An overview of DNA analytical methods. In Methods in Molecular Biology. Humana Press Inc. 2019. p. 385-402. (Methods in Molecular Biology). https://doi.org/10.1007/978-1-4939-8935-5_31
Arboleda, Valerie A. ; Xian, Rena. / An overview of DNA analytical methods. Methods in Molecular Biology. Humana Press Inc., 2019. pp. 385-402 (Methods in Molecular Biology).
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