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Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics

Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing a...

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Detalles Bibliográficos
Autores principales: Ardui, Simon, Ameur, Adam, Vermeesch, Joris R, Hestand, Matthew S
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Oxford University Press 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861413/
https://www.ncbi.nlm.nih.gov/pubmed/29401301
http://dx.doi.org/10.1093/nar/gky066
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author Ardui, Simon
Ameur, Adam
Vermeesch, Joris R
Hestand, Matthew S
author_facet Ardui, Simon
Ameur, Adam
Vermeesch, Joris R
Hestand, Matthew S
author_sort Ardui, Simon
collection PubMed
description Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing.
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spelling pubmed-58614132018-03-28 Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics Ardui, Simon Ameur, Adam Vermeesch, Joris R Hestand, Matthew S Nucleic Acids Res Survey and Summary Short read massive parallel sequencing has emerged as a standard diagnostic tool in the medical setting. However, short read technologies have inherent limitations such as GC bias, difficulties mapping to repetitive elements, trouble discriminating paralogous sequences, and difficulties in phasing alleles. Long read single molecule sequencers resolve these obstacles. Moreover, they offer higher consensus accuracies and can detect epigenetic modifications from native DNA. The first commercially available long read single molecule platform was the RS system based on PacBio's single molecule real-time (SMRT) sequencing technology, which has since evolved into their RSII and Sequel systems. Here we capsulize how SMRT sequencing is revolutionizing constitutional, reproductive, cancer, microbial and viral genetic testing. Oxford University Press 2018-03-16 2018-02-01 /pmc/articles/PMC5861413/ /pubmed/29401301 http://dx.doi.org/10.1093/nar/gky066 Text en © The Author(s) 2018. Published by Oxford University Press on behalf of Nucleic Acids Research. http://creativecommons.org/licenses/by-nc/4.0/ This is an Open Access article distributed under the terms of the Creative Commons Attribution License (http://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited. For commercial re-use, please contact journals.permissions@oup.com
spellingShingle Survey and Summary
Ardui, Simon
Ameur, Adam
Vermeesch, Joris R
Hestand, Matthew S
Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title_full Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title_fullStr Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title_full_unstemmed Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title_short Single molecule real-time (SMRT) sequencing comes of age: applications and utilities for medical diagnostics
title_sort single molecule real-time (smrt) sequencing comes of age: applications and utilities for medical diagnostics
topic Survey and Summary
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5861413/
https://www.ncbi.nlm.nih.gov/pubmed/29401301
http://dx.doi.org/10.1093/nar/gky066
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