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Long-read human genome sequencing and its applications.
Nature Reviews Genetics ( IF 42.7 ) Pub Date : 2020-06-05 , DOI: 10.1038/s41576-020-0236-x
Glennis A Logsdon 1 , Mitchell R Vollger 1 , Evan E Eichler 1, 2
Affiliation  

Over the past decade, long-read, single-molecule DNA sequencing technologies have emerged as powerful players in genomics. With the ability to generate reads tens to thousands of kilobases in length with an accuracy approaching that of short-read sequencing technologies, these platforms have proven their ability to resolve some of the most challenging regions of the human genome, detect previously inaccessible structural variants and generate some of the first telomere-to-telomere assemblies of whole chromosomes. Long-read sequencing technologies will soon permit the routine assembly of diploid genomes, which will revolutionize genomics by revealing the full spectrum of human genetic variation, resolving some of the missing heritability and leading to the discovery of novel mechanisms of disease.



中文翻译:

长读人类基因组测序及其应用。

在过去的十年中,长读长、单分子 DNA 测序技术已成为基因组学领域的强大参与者。这些平台能够生成长度为数万至数千碱基的读数,其准确度接近短读长测序技术,已证明它们有能力解决人类基因组中一些最具挑战性的区域,检测以前无法访问的结构变异并产生整个染色体的一些第一个端粒到端粒组装。长读长测序技术很快将允许二倍体基因组的常规组装,这将通过揭示人类遗传变异的全谱、解决一些缺失的遗传性并导致新的疾病机制的发现来彻底改变基因组学。

更新日期:2020-06-05
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