Structural variation of the human genome

被引:171
|
作者
Sharp, Andrew J. [1 ]
Cheng, Ze [1 ]
Eichler, Evan E. [1 ]
机构
[1] Univ Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USA
关键词
polymorphism; rearrangement; insertion; deletion; inversion;
D O I
10.1146/annurev.genom.7.080505.115618
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
There is growing appreciation that the human genome contains significant numbers of structural rearrangements, such as insertions, deletions, inversions, and large tandem repeats. Recent studies have defined approximately 5% of the human genome as structurally variant in the normal population, involving more than 800 independent genes. We present a detailed review of the various structural rearrangements identified to date in humans, with particular reference to their influence on human phenotypic variation. Our current knowledge of the extent of human structural variation shows that the human genome is a highly dynamic structure that shows significant large-scale variation from the currently published genome reference sequence.
引用
收藏
页码:407 / 442
页数:36
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