Detection of large-scale variation in the human genome
Detection of large-scale variation in the human genome
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DOI：
10.1038/ng1416
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发表时间：
2004-09-01
期刊：
影响因子：
30.8
通讯作者：
Lee, C
中科院分区：
文献类型：
--
作者：
Iafrate, AJ;Feuk, L;Lee, C
我们确定了在人类基因组中的255个基因座，这些基因组包含无关个体之间的基因组失衡。 > 10％的人中有24个变体。这些区域中有一半与基因重叠，许多区域与人类基因组组装中的分段重复或差距一致。这种以前未经批准的异质性可能是某些人类表型变异和对疾病的易感性的基础，并主张人类基因组结构更具动态性。
We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in >10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.