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Genomic Analysis Through High-Throughput Sequencing

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Genomic Elements in Health, Disease and Evolution

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Abstract

In the last decade there has been an explosion in the development of new technologies for high-throughput DNA sequencing, which has led to the sharp decline of associated costs. This has allowed scientists to develop a multitude of methodologies to study, on a global scale, the genomes and transcriptomes of human cells. In this chapter the major technologies are reviewed along with the applications of high-throughput sequencing in the study of human disease in terms of non-genic DNA and RNA elements.

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Author information

Authors and Affiliations

  1. DOE Joint Genome Institute, 2800 Mitchell Dr., Walnut Creek, CA, 94598, USA

    Michalis Hadjithomas B.Sc., Ph.D.

  2. Lawrence Berkeley National Laboratory, Berkeley, CA, 94720, USA

    Michalis Hadjithomas B.Sc., Ph.D.

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  1. Michalis Hadjithomas B.Sc., Ph.D.
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Correspondence to Michalis Hadjithomas B.Sc., Ph.D. .

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Editors and Affiliations

  1. Department of Life and Health Sciences and University of Nicosia Medical School, University of Nicosia, Nicosia, Cyprus

    Kyriacos Felekkis

  2. Department of Biological Sciences, Molecular Medicine Research Center, University of Cyprus, Nicosia, Cyprus

    Konstantinos Voskarides

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Hadjithomas, M. (2015). Genomic Analysis Through High-Throughput Sequencing. In: Felekkis, K., Voskarides, K. (eds) Genomic Elements in Health, Disease and Evolution. Springer, New York, NY. https://doi.org/10.1007/978-1-4939-3070-8_12

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