The Centre for Applied Genomics, and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada.
1] The Centre for Applied Genomics, and Program in Genetics and Genome Biology, The Hospital for Sick Children, Toronto, Ontario M5G 1L7, Canada. [2] McLaughlin Centre and Department of Molecular Genetics, University of Toronto, Toronto, Ontario M5G 1L7, Canada.
Nat Rev Genet. 2015 Mar;16(3):172-83. doi: 10.1038/nrg3871. Epub 2015 Feb 3.
A major contribution to the genome variability among individuals comes from deletions and duplications - collectively termed copy number variations (CNVs) - which alter the diploid status of DNA. These alterations may have no phenotypic effect, account for adaptive traits or can underlie disease. We have compiled published high-quality data on healthy individuals of various ethnicities to construct an updated CNV map of the human genome. Depending on the level of stringency of the map, we estimated that 4.8-9.5% of the genome contributes to CNV and found approximately 100 genes that can be completely deleted without producing apparent phenotypic consequences. This map will aid the interpretation of new CNV findings for both clinical and research applications.
个体间基因组变异的一个主要贡献来自于缺失和重复——统称为拷贝数变异（CNVs）——这些改变了 DNA 的二倍体状态。这些改变可能没有表型效应，解释适应性特征，或者是疾病的基础。我们已经整合了各种族健康个体的已发表的高质量数据，构建了人类基因组的更新的 CNV 图谱。根据图谱的严格程度，我们估计基因组的 4.8-9.5%与 CNV 有关，发现了大约 100 个基因，如果完全缺失，不会产生明显的表型后果。该图谱将有助于解释临床和研究应用中发现的新的 CNV 结果。
