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Semin Thromb Hemost 2019; 45(07): 661-673
DOI: 10.1055/s-0039-1688446
Review Article
Thieme Medical Publishers 333 Seventh Avenue, New York, NY 10001, USA.

Next-Generation Sequencing and Emerging Technologies

Kishore R. Kumar 
1   Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
2   Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, Australia
3   Molecular Medicine Laboratory, Concord Hospital, Sydney, Australia
,
Mark J. Cowley 
1   Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
4   Computational Biology Group, Children's Cancer Institute, University of New South Wales, Randwick, New South Wales, Australia
,
Ryan L. Davis 
1   Translational Genomics Group, Kinghorn Centre for Clinical Genomics, Garvan Institute of Medical Research, Darlinghurst, New South Wales, Australia
2   Department of Neurogenetics, Kolling Institute, University of Sydney and Royal North Shore Hospital, St Leonards, New South Wales, Australia
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Publikationsdatum:
16. Mai 2019 (online)

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Abstract

Genetic sequencing technologies are evolving at a rapid pace with major implications for research and clinical practice. In this review, the authors provide an updated overview of next-generation sequencing (NGS) and emerging methodologies. NGS has tremendously improved sequencing output while being more time and cost-efficient in comparison to Sanger sequencing. The authors describe short-read sequencing approaches, such as sequencing by synthesis, ion semiconductor sequencing, and nanoball sequencing. Third-generation long-read sequencing now promises to overcome many of the limitations of short-read sequencing, such as the ability to reliably resolve repeat sequences and large genomic rearrangements. By combining complementary methods with massively parallel DNA sequencing, a greater insight into the biological context of disease mechanisms is now possible. Emerging methodologies, such as advances in nanopore technology, in situ nucleic acid sequencing, and microscopy-based sequencing, will continue the rapid evolution of this area. These new technologies hold many potential applications for hematological disorders, with the promise of precision and personalized medical care in the future.

Keywords

next-generation sequencing - whole-exome sequencing - whole-genome sequencing - nanopore - PacBio - Illumina - Ion Torrent - nanoball - thrombosis - hemostasis