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Nanopore sequencing in blood diseases: a wide range of opportunities


Date: 19th February 2020 | Source: Frontiers in Genetics

Authors: Crescenzio Francesco Minervini†, Cosimo Cumbo†, Paola Orsini†, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, Francesco Albano.

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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