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Single-Molecule Sequencing: Towards Clinical Applications
Uppsala University, Disciplinary Domain of Medicine and Pharmacy, Faculty of Medicine, Department of Immunology, Genetics and Pathology. Uppsala University, Science for Life Laboratory, SciLifeLab. Monash Univ, Sch Publ Hlth & Prevent Med, Melbourne, Vic, Australia.ORCID iD: 0000-0001-6085-6749
UMC Utrecht, Dept Genet, Ctr Mol Med, NL-3584 CG Utrecht, Netherlands.
Cincinnati Childrens Hosp Med Ctr, Div Human Genet, Cincinnati, OH 45229 USA.
2019 (English)In: Trends in Biotechnology, ISSN 0167-7799, E-ISSN 1879-3096, Vol. 37, no 1, p. 72-85Article, review/survey (Refereed) Published
Abstract [en]

In the past several years, single-molecule sequencing platforms, such as those by Pacific Biosciences and Oxford Nanopore Technologies, have become available to researchers and are currently being tested for clinical applications. They offer exceptionally long reads that permit direct sequencing through regions of the genome inaccessible or difficult to analyze by short-read platforms. This includes disease-causing long repetitive elements, extreme GC content regions, and complex gene loci. Similarly, these platforms enable structural variation characterization at previously unparalleled resolution and direct detection of epigenetic marks in native DNA. Here, we review how these technologies are opening up new clinical avenues that are being applied to pathogenic microorganisms and viruses, constitutional disorders, pharmaco-genomics, cancer, and more.

Place, publisher, year, edition, pages
2019. Vol. 37, no 1, p. 72-85
National Category
Biochemistry and Molecular Biology
Identifiers
URN: urn:nbn:se:uu:diva-373914DOI: 10.1016/j.tibtech.2018.07.013ISI: 000453919500009PubMedID: 30115375OAI: oai:DiVA.org:uu-373914DiVA, id: diva2:1279818
Available from: 2019-01-17 Created: 2019-01-17 Last updated: 2019-01-17Bibliographically approved

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Ameur, Adam

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