Fine-scale structural variation of the human genome
Fine-scale structural variation of the human genome
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DOI：
10.1038/ng1562
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发表时间：
2005-07-01
期刊：
影响因子：
30.8
通讯作者：
Eichler, EE
中科院分区：
文献类型：
--
作者：
Tuzun, E;Sharp, AJ;Eichler, EE
倒位、缺失和插入是疾病和疾病易感性的重要中介因子(1)。我们系统地比较了人类基因组参考序列和第二个基因组(以Fosmidd配对末端序列为代表)，以检测长度为8kb的中等大小的结构变异。我们确定了297个构造变异位点：139个插入、102个缺失和56个反转断点。结合文献、序列和实验分析，我们验证了112个结构变异，其中包括几个与生物医学相关的变异。这些数据为后续的人类疾病遗传学研究提供了人类基因组的精细结构变异图和必要的序列精确度。
Inversions, deletions and insertions are important mediators of disease and disease susceptibility(1). We systematically compared the human genome reference sequence with a second genome ( represented by fosmid paired- end sequences) to detect intermediate- sized structural variants > 8 kb in length. We identified 297 sites of structural variation: 139 insertions, 102 deletions and 56 inversion breakpoints. Using combined literature, sequence and experimental analyses, we validated 112 of the structural variants, including several that are of biomedical relevance. These data provide a fine- scale structural variation map of the human genome and the requisite sequence precision for subsequent genetic studies of human disease.