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首页> 外文期刊>Nucleic Acids Research >The HuRef Browser: a web resource for individual human genomics.
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The HuRef Browser: a web resource for individual human genomics.

机译:HuRef浏览器:有关单个人类基因组学的Web资源。

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摘要

The HuRef Genome Browser is a web application for the navigation and analysis of the previously published genome of a human individual, termed HuRef. The browser provides a comparative view between the NCBI human reference sequence and the HuRef assembly, and it enables the navigation of the HuRef genome in the context of HuRef, NCBI and Ensembl annotations. Single nucleotide polymorphisms, indels, inversions, structural and copy-number variations are shown in the context of existing functional annotations on either genome in the comparative view. Demonstrated here are some potential uses of the browser to enable a better understanding of individual human genetic variation. The browser provides full access to the underlying reads with sequence and quality information, the genome assembly and the evidence supporting the identification of DNA polymorphisms. The HuRef Browser is a unique and versatile tool for browsing genome assemblies and studying individual human sequence variation in a diploid context. The browser is available online at http://huref.jcvi.org.
机译:HuRef Genome Browser是一个Web应用程序,用于导航和分析先前发布的人类个体基因组,称为HuRef。该浏览器提供了NCBI人类参考序列与HuRef程序集之间的比较视图,并且可以在HuRef,NCBI和Ensembl注释的上下文中导航HuRef基因组。在比较视图中,在任一基因组上现有功能注释的背景下显示了单核苷酸多态性,插入缺失,倒位,结构和拷贝数变异。这里展示的是浏览器的一些潜在用途,可以使人们更好地理解人类的个体遗传变异。该浏览器提供对具有序列和质量信息,基因组装配以及支持DNA多态性鉴定的证据的基础读物的完全访问。 HuRef浏览器是一种独特且用途广泛的工具,可用于浏览基因组装配并研究二倍体环境中的人类单个序列变异。该浏览器可从http://huref.jcvi.org在线获得。

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