基因组结构变异发现与基因分型。
Genome structural variation discovery and genotyping.
机构信息
Department of Genome Sciences, University of Washington School of Medicine, Foege S413C, 3720 15th Ave NE, Seattle, Washington, USA.
出版信息
Nat Rev Genet. 2011 May;12(5):363-76. doi: 10.1038/nrg2958. Epub 2011 Mar 1.
Abstract
Comparisons of human genomes show that more base pairs are altered as a result of structural variation - including copy number variation - than as a result of point mutations. Here we review advances and challenges in the discovery and genotyping of structural variation. The recent application of massively parallel sequencing methods has complemented microarray-based methods and has led to an exponential increase in the discovery of smaller structural-variation events. Some global discovery biases remain, but the integration of experimental and computational approaches is proving fruitful for accurate characterization of the copy, content and structure of variable regions. We argue that the long-term goal should be routine, cost-effective and high quality de novo assembly of human genomes to comprehensively assess all classes of structural variation.
摘要
人类基因组的比较表明，由于结构变异（包括拷贝数变异）导致的碱基对改变要多于由于点突变导致的碱基对改变。在这里，我们回顾了结构变异的发现和基因分型方面的进展和挑战。最近大规模平行测序方法的应用补充了基于微阵列的方法，并导致较小结构变异事件的发现呈指数级增长。仍然存在一些全局发现偏差，但实验和计算方法的整合正被证明对于准确描述可变区域的拷贝数、内容和结构是富有成效的。我们认为，长期目标应该是常规、具有成本效益和高质量的人类基因组从头组装，以全面评估所有类别的结构变异。
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