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Next-Generation Sequencing and Emerging Technologies


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.

Type Journal
ISBN 1098-9064 (Electronic) 0094-6176 (Linking)
Authors Kumar, K. R.; Cowley, M. J.; Davis, R. L.
Responsible Garvan Author (missing name)
Published Date 2019-10-01
Published Volume 45
Published Issue 7
Published Pages 661-673
Status Always Electronic
DOI 10.1055/s-0039-1688446
URL link to publisher's version