Inversion variants in the human genome: role in disease and genome architecture.
Inversion variants in the human genome: role in disease and genome architecture.
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DOI：
10.1186/gm132
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发表时间：
2010-02-12
期刊：
影响因子：
12.3
通讯作者：
Feuk L
中科院分区：
文献类型：
--
作者：
Feuk L
过去五年来，在绘制和表征人类基因组结构变异方面取得了重大进展。尽管取得了这些进展，我们对反转变体的理解仍然非常有限。虽然可以使用基于阵列的方法来映射诸如拷贝数变异之类的不平衡变异，但用于表征反转变异的策略受到限制且尚未开发。传统的细胞遗传学方法长期以来能够识别微观反转事件，但亚微观事件的发现仍然难以捉摸并且在很大程度上被忽视。随着双端测序方法的出现，现在可以绘制人类基因组的倒位图。根据迄今为止发表的双端测序研究，现在可以制作第一个人类基因组倒位图，并使用该图来探索这种变异形式的特征和分布。目前的反演图表明，许多反演仍有待识别，特别是在较小尺寸范围内。这篇综述概述了当前有关人类倒置及其对人类表型的贡献的知识。倒位的进一步表征应被视为深入了解人类变异和基因组动力学的重要一步。
Significant advances have been made over the past 5 years in mapping and characterizing structural variation in the human genome. Despite this progress, our understanding of inversion variants is still very restricted. While unbalanced variants such as copy number variations can be mapped using array-based approaches, strategies for characterization of inversion variants have been limited and underdeveloped. Traditional cytogenetic approaches have long been able to identify microscopic inversion events, but discovery of submicroscopic events has remained elusive and largely ignored. With the advent of paired-end sequencing approaches, it is now possible to map inversions across the human genome. Based on the paired-end sequencing studies published to date, it is now feasible to make a first map of inversions across the human genome and to use this map to explore the characteristics and distribution of this form of variation. The current map of inversions indicates that many remain to be identified, especially in the smaller size ranges. This review provides an overview of the current knowledge about human inversions and their contribution to human phenotypes. Further characterization of inversions should be considered as an important step towards a deeper understanding of human variation and genome dynamics.
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影响因子：
4.5
作者：
Feuk L;MacDonald JR;Tang T;Carson AR;Li M;Rao G;Khaja R;Scherer SW
通讯作者：
Scherer SW
影响因子：
3.5
作者：
Antonacci F;Kidd JM;Marques-Bonet T;Ventura M;Siswara P;Jiang Z;Eichler EE
通讯作者：
Eichler EE
影响因子：
56.9
作者：
Hinds, DA;Stuve, LL;Cox, DR
通讯作者：
Cox, DR
影响因子：
9.8
作者：
Giglio, S;Calvari, V;Zuffardi, O
通讯作者：
Zuffardi, O
DOI：
10.1002/ajmg.1320320235
发表时间：
1989-02-01
期刊：
AMERICAN JOURNAL OF MEDICAL GENETICS
影响因子：
--
作者：
KNOLL, JHM;NICHOLLS, RD;LATT, SA
通讯作者：
LATT, SA