纳米孔测序在血液疾病中的应用：众多机遇
Nanopore Sequencing in Blood Diseases: A Wide Range of Opportunities.
作者信息
Minervini Crescenzio Francesco, Cumbo Cosimo, Orsini Paola, Anelli Luisa, Zagaria Antonella, Specchia Giorgina, Albano Francesco
机构信息
Department of Emergency and Organ Transplantation (D.E.T.O.), Hematology Section, University of Bari, Bari, Italy.
出版信息
Front Genet. 2020 Feb 19;11:76. doi: 10.3389/fgene.2020.00076. eCollection 2020.
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
血液系统疾病的分子发病机制通常由遗传和表观遗传改变驱动。下一代测序极大地增加了我们对这些疾病的基因组学认识，并且在临床实践中越来越普遍。2012年，牛津纳米孔技术公司（ONT）发布了MinION，这是首款基于纳米孔的长读长测序仪，克服了短读长序列生成的主要局限。在过去几年中，多种纳米孔测序方法已在各种“组学”科学中得到应用；本综述重点关注在血液学领域引入ONT设备所面临的挑战，展示该技术在精准医学时代的优势、劣势及未来前景。
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