High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
High-resolution mapping and analysis of copy number variations in the human genome: A data resource for clinical and research applications
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DOI：
10.1101/gr.083501.108
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发表时间：
2009-09-01
期刊：
影响因子：
7
通讯作者：
Hakonarson, Hakon
中科院分区：
文献类型：
--
作者：
Shaikh, Tamim H.;Gai, Xiaowu;Hakonarson, Hakon
我们展示了一个在2026名无疾病个体中检测到的拷贝数变异（CNV）数据库，使用的是基于单核苷酸多态性（SNP）的高密度寡核苷酸微阵列。这个大型队列主要由白种人（65.2%）和非裔美国人（34.2%）组成，在一项研究中使用统一的阵列平台和计算流程对其CNV进行了分析。我们已经对54462个个体CNV进行了编目和特征描述，其中77.8%在多个无亲缘关系的个体中被识别出来。这些非独特的CNV定位到基因组变异的3272个不同区域，涵盖了基因组的5.9%；其中51.5%以前未被报道过，并且>85%是罕见的。我们的注释和分析证实并扩展了先前报道的CNV与一些基因组特征之间的相关性，例如重复DNA元件、片段重复和基因。我们证明了这个数据集在区分具有病理意义的CNV和正常变异方面的实用性。总之，这种分析和注释提供了一种有用的资源，有助于在人类变异、疾病易感性和临床分子诊断的背景下对CNV进行评估。
We present a database of copy number variations (CNVs) detected in 2026 disease-free individuals, using high-density, SNP-based oligonucleotide microarrays. This large cohort, comprised mainly of Caucasians (65.2%) and African-Americans (34.2%), was analyzed for CNVs in a single study using a uniform array platform and computational process. We have catalogued and characterized 54,462 individual CNVs, 77.8% of which were identified in multiple unrelated individuals. These nonunique CNVs mapped to 3272 distinct regions of genomic variation spanning 5.9% of the genome; 51.5% of these were previously unreported, and >85% are rare. Our annotation and analysis confirmed and extended previously reported correlations between CNVs and several genomic features such as repetitive DNA elements, segmental duplications, and genes. We demonstrate the utility of this data set in distinguishing CNVs with pathologic significance from normal variants. Together, this analysis and annotation provides a useful resource to assist with the assessment of CNVs in the contexts of human variation, disease susceptibility, and clinical molecular diagnostics.