机构:
Univ Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USA
Sharp, Andrew J.
[1
]
Cheng, Ze
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机构:
Univ Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USA
Cheng, Ze
[1
]
Eichler, Evan E.
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Univ Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USAUniv Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USA
Eichler, Evan E.
[1
]
机构:
[1] Univ Washington, Howard Hughes Med Inst, Dept Genome Sci, Seattle, WA 98195 USA
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.
机构:The Centre for Applied Genomics and Program in Genetics and Genomic Biology,The Hospital for Sick Children and Department of Molecular and Medical Genetics
Lars Feuk
Andrew R. Carson
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机构:The Centre for Applied Genomics and Program in Genetics and Genomic Biology,The Hospital for Sick Children and Department of Molecular and Medical Genetics
Andrew R. Carson
Stephen W. Scherer
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机构:The Centre for Applied Genomics and Program in Genetics and Genomic Biology,The Hospital for Sick Children and Department of Molecular and Medical Genetics