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Updated: Jun 13, 2026

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants
09:16

Array Comparative Genomic Hybridization (Array CGH) for Detection of Genomic Copy Number Variants

Published on: February 21, 2015

人类基因组拷贝数变化的起源和功能影响

Donald F Conrad1, Dalila Pinto, Richard Redon

  • 1The Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SA UK.

Nature
|October 9, 2009
PubMed
概括

这项研究绘制了人类基因组中的11000多个副本数变异 (CNV),揭示了它们的突变机制和与疾病易感性的潜在联系. 常见的CNV不能解释全基因组关联研究发现的复杂特征的遗传差距.

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