纳米孔测序
纳米孔
DNA测序
计算生物学
精密医学
生物
表观遗传学
分子诊断学
基因
遗传学
纳米技术
材料科学
作者
Sergey A. Dyshlovoy,Stefanie Paigin,Ann‐Kristin Afflerbach,Annabelle Lobermeyer,Stefan Werner,Ulrich Schüller,Carsten Bokemeyer,Anna Schuh,Lina Merkens,Gunhild von Amsberg,Simon A. Joosse
摘要
Abstract Oxford Nanopore Technologies sequencing, also referred to as Nanopore sequencing, stands at the forefront of a revolution in clinical genetics, offering the potential for rapid, long read, and real‐time DNA and RNA sequencing. This technology is currently making sequencing more accessible and affordable. In this comprehensive review, we explore its potential regarding precision cancer diagnostics and treatment. We encompass a critical analysis of clinical cases where Nanopore sequencing was successfully applied to identify point mutations, splice variants, gene fusions, epigenetic modifications, non‐coding RNAs, and other pivotal biomarkers that defined subsequent treatment strategies. Additionally, we address the challenges of clinical applications of Nanopore sequencing and discuss the current efforts to overcome them.
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