Structural variation in the sequencing era.,Nature Reviews Genetics

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Structural variation in the sequencing era.
Nature Reviews Genetics ( IF 39.1 ) Pub Date : 2019-11-15 , DOI: 10.1038/s41576-019-0180-9
Steve S Ho ₁ , Alexander E Urban _{2,

3} , Ryan E Mills _{1,

4}

Affiliation

Identifying structural variation (SV) is essential for genome interpretation but has been historically difficult due to limitations inherent to available genome technologies. Detection methods that use ensemble algorithms and emerging sequencing technologies have enabled the discovery of thousands of SVs, uncovering information about their ubiquity, relationship to disease and possible effects on biological mechanisms. Given the variability in SV type and size, along with unique detection biases of emerging genomic platforms, multiplatform discovery is necessary to resolve the full spectrum of variation. Here, we review modern approaches for investigating SVs and proffer that, moving forwards, studies integrating biological information with detection will be necessary to comprehensively understand the impact of SV in the human genome.

中文翻译：

测序时代的结构变异。

识别结构变异（SV）对于基因组解释至关重要，但由于现有基因组技术固有的局限性，历史上一直很困难。使用集成算法和新兴测序技术的检测方法已经能够发现数以千计的SV，揭示它们的普遍性、与疾病的关系以及对生物机制可能产生的影响的信息。鉴于 SV 类型和大小的可变性，以及新兴基因组平台的独特检测偏差，多平台发现对于解决全方位的变异是必要的。在这里，我们回顾了研究 SV 的现代方法，并提出，展望未来，将生物信息与检测相结合的研究对于全面了解 SV 对人类基因组的影响是必要的。

更新日期：2019-11-15

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