Long reads: their purpose and place.
Long reads: their purpose and place.
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DOI：
10.1093/hmg/ddy177
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发表时间：
2018-08-01
影响因子：
3.5
通讯作者：
Sandhu MS
中科院分区：
文献类型：
--
作者：
Pollard MO;Gurdasani D;Mentzer AJ;Porter T;Sandhu MS
近年来，长期阅读的技术已经从一个利基和专业领域发展到相对成熟的点，很可能经常出现在基因组图景中。类似于下一代测序，使用长读取技术的测序成本大幅下降，同时仪器吞吐量继续增加。总而言之，这些变化带来了对大量个体进行测序的前景，目的是以高分辨率充分描述基因组的特征。在这篇文章中，我们将努力介绍长阅读技术，展示：什么是长阅读；它们与短阅读有何不同；为什么长阅读有用以及它们是如何使用的。我们将重点介绍这一领域的最新发展，以及这些技术在医学研究、临床诊断和治疗方面的应用和潜力。
In recent years long-read technologies have moved from being a niche and specialist field to a point of relative maturity likely to feature frequently in the genomic landscape. Analogous to next generation sequencing, the cost of sequencing using long-read technologies has materially dropped whilst the instrument throughput continues to increase. Together these changes present the prospect of sequencing large numbers of individuals with the aim of fully characterizing genomes at high resolution. In this article, we will endeavour to present an introduction to long-read technologies showing: what long reads are; how they are distinct from short reads; why long reads are useful and how they are being used. We will highlight the recent developments in this field, and the applications and potential of these technologies in medical research, and clinical diagnostics and therapeutics.
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影响因子：
7
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Huddleston J;Chaisson MJP;Steinberg KM;Warren W;Hoekzema K;Gordon D;Graves-Lindsay TA;Munson KM;Kronenberg ZN;Vives L;Peluso P;Boitano M;Chin CS;Korlach J;Wilson RK;Eichler EE
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影响因子：
16.6
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