Abstract

Structural variant (SV) differences between human genomes can cause germline and mosaic disease as well as inter-individual variation. De-regulation of accurate DNA repair and genomic surveillance mechanisms results in a large number of SVs in cancer. Analysis of the DNA sequences at SV breakpoints can help identify pathways of mutagenesis and regions of the genome that are more susceptible to rearrangement. Large-scale SV analyses have been enabled by high-throughput genome-level sequencing on humans in the past decade. These studies have shed light on the mechanisms and prevalence of complex genomic rearrangements. Recent advancements in both sequencing and other mapping technologies as well as calling algorithms for detection of genomic rearrangements have helped propel SV detection into population-scale studies, and have begun to elucidate previously inaccessible regions of the genome. Here, we discuss the genomic organization of simple and complex SVs, the molecular mechanisms of their formation, and various ways to detect them. We also introduce methods for characterizing SVs and their consequences on human genomes.

中文翻译：

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结构变体的识别和表征。

摘要

人类基因组之间的结构变异（SV）差异可能导致种系和花叶病以及个体间变异。取消精确的DNA修复和基因组监测机制的失调会导致癌症中大量的SV。在SV断点处对DNA序列进行分析可以帮助鉴定诱变途径和基因组中更易重排的区域。在过去的十年中，通过对人类进行高通量的基因组水平测序，实现了大规模的SV分析。这些研究揭示了复杂基因组重排的机制和普遍性。测序技术和其他作图技术的最新进展以及用于检测基因组重排的调用算法已将SV检测推向了人口规模研究，并且已经开始阐明基因组以前无法进入的区域。在这里，我们讨论了简单和复杂SV的基因组组织，其形成的分子机制以及检测它们的各种方法。我们还介绍了表征SV及其对人类基因组后果的方法。