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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.
摘要：
血液病的分子发病机制通常由遗传和表观遗传改变驱动。下一代测序大大增加了我们对这些疾病的基因组知识，在临床实践中变得越来越普遍。2012年，牛津纳米孔技术公司（ONT）发布了Minion，第一个基于纳米孔的长读数测序仪，克服了短读取序列生成的主要限制。在过去的几年里，几种纳米孔测序方法已经在各种\“-omic\”科学中进行;这篇综述侧重于在血液学领域引入ONT设备的挑战，显示优势，该技术在精准医学时代的弊端和未来前景。
