A blood drop through the pore: nanopore sequencing in hematology

Niccolò Bartalucci; Simone Romagnoli; Alessandro Maria Vannucchi

doi:10.1016/j.tig.2021.11.003

A blood drop through the pore: nanopore sequencing in hematology

Trends Genet. 2022 Jun;38(6):572-586. doi: 10.1016/j.tig.2021.11.003. Epub 2021 Dec 11.

Authors

Niccolò Bartalucci¹, Simone Romagnoli¹, Alessandro Maria Vannucchi²

Affiliations

¹ CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Careggi University Hospital and Department of Experimental and Clinical Medicine, University of Florence, DENOTHE Excellence Center, Florence, Italy.
² CRIMM, Center of Research and Innovation of Myeloproliferative Neoplasms, Careggi University Hospital and Department of Experimental and Clinical Medicine, University of Florence, DENOTHE Excellence Center, Florence, Italy. Electronic address: amvannucchi@unifi.it.

PMID: 34906378
DOI: 10.1016/j.tig.2021.11.003

Abstract

The development of new sequencing platforms, technologies, and bioinformatics tools in the past decade fostered key discoveries in human genomics. Among the most recent sequencing technologies, nanopore sequencing (NS) has caught the interest of researchers for its intriguing potential and flexibility. This up-to-date review highlights the recent application of NS in the hematology field, focusing on progress and challenges of the technological approaches employed for the identification of pathologic alterations. The molecular and analytic pipelines developed for the analysis of the whole-genome, target regions, and transcriptomics provide a proof of evidence of the unparalleled amount of information that could be retrieved by an innovative approach based on long-read sequencing.

Keywords: genomic structural variant; hematology; nanopore; sequencing.

Publication types

Review
Research Support, Non-U.S. Gov't

MeSH terms

Genome, Human
Hematology*
High-Throughput Nucleotide Sequencing
Humans
Nanopore Sequencing*
Sequence Analysis, DNA