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Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities.

ABSTRACT: 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.

SUBMITTER: Minervini CF

PROVIDER: S-EPMC7043087 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature

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Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities.

Minervini Crescenzio Francesco CF Cumbo Cosimo C Orsini Paola P Anelli Luisa L Zagaria Antonella A Specchia Giorgina G Albano Francesco F

Frontiers in genetics 20200219

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 per ...[more]

PMID: 32140171

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