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Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities

The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice. In 2012 Oxford Nanopore Technologies (ONT) re...

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Autores principales: Minervini, Crescenzio Francesco, Cumbo, Cosimo, Orsini, Paola, Anelli, Luisa, Zagaria, Antonella, Specchia, Giorgina, Albano, Francesco
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043087/
https://www.ncbi.nlm.nih.gov/pubmed/32140171
http://dx.doi.org/10.3389/fgene.2020.00076
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author Minervini, Crescenzio Francesco
Cumbo, Cosimo
Orsini, Paola
Anelli, Luisa
Zagaria, Antonella
Specchia, Giorgina
Albano, Francesco
author_facet Minervini, Crescenzio Francesco
Cumbo, Cosimo
Orsini, Paola
Anelli, Luisa
Zagaria, Antonella
Specchia, Giorgina
Albano, Francesco
author_sort Minervini, Crescenzio Francesco
collection PubMed
description The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice. In 2012 Oxford Nanopore Technologies (ONT) released the MinION, the first long-read nanopore-based sequencer, overcoming the main limits of short-reads sequences generation. In the last years, several nanopore sequencing approaches have been performed in various “-omic” sciences; this review focuses on the challenge to introduce ONT devices in the hematological field, showing advantages, disadvantages and future perspectives of this technology in the precision medicine era.
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spelling pubmed-70430872020-03-05 Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities Minervini, Crescenzio Francesco Cumbo, Cosimo Orsini, Paola Anelli, Luisa Zagaria, Antonella Specchia, Giorgina Albano, Francesco Front Genet Genetics The molecular pathogenesis of hematological diseases is often driven by genetic and epigenetic alterations. Next-generation sequencing has considerably increased our genomic knowledge of these disorders becoming ever more widespread in clinical practice. In 2012 Oxford Nanopore Technologies (ONT) released the MinION, the first long-read nanopore-based sequencer, overcoming the main limits of short-reads sequences generation. In the last years, several nanopore sequencing approaches have been performed in various “-omic” sciences; this review focuses on the challenge to introduce ONT devices in the hematological field, showing advantages, disadvantages and future perspectives of this technology in the precision medicine era. Frontiers Media S.A. 2020-02-19 /pmc/articles/PMC7043087/ /pubmed/32140171 http://dx.doi.org/10.3389/fgene.2020.00076 Text en Copyright © 2020 Minervini, Cumbo, Orsini, Anelli, Zagaria, Specchia and Albano http://creativecommons.org/licenses/by/4.0/ This is an open-access article distributed under the terms of the Creative Commons Attribution License (CC BY). The use, distribution or reproduction in other forums is permitted, provided the original author(s) and the copyright owner(s) are credited and that the original publication in this journal is cited, in accordance with accepted academic practice. No use, distribution or reproduction is permitted which does not comply with these terms.
spellingShingle Genetics
Minervini, Crescenzio Francesco
Cumbo, Cosimo
Orsini, Paola
Anelli, Luisa
Zagaria, Antonella
Specchia, Giorgina
Albano, Francesco
Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title_full Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title_fullStr Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title_full_unstemmed Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title_short Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
title_sort nanopore sequencing in blood diseases: a wide range of opportunities
topic Genetics
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7043087/
https://www.ncbi.nlm.nih.gov/pubmed/32140171
http://dx.doi.org/10.3389/fgene.2020.00076
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