1. Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities
- Author
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Crescenzio Francesco Minervini, Cosimo Cumbo, Paola Orsini, Luisa Anelli, Antonella Zagaria, Giorgina Specchia, and Francesco Albano
- Subjects
nanopore sequencing ,blood diseases ,target gene sequencing ,structural variants ,transcriptome ,epigenetic modifications ,Genetics ,QH426-470 - 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.
- Published
- 2020
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