Using optical mapping data for the improvement of vertebrate genome assemblies.

Using optical mapping data for the improvement of vertebrate genome assemblies.
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DOI:
10.1186/s13742-015-0052-y
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发表时间:
2015
期刊:
影响因子:
9.2
通讯作者:
Wood JM
Wood JM
中科院分区:
生物学2区
文献类型:
--
作者:
Howe K;Wood JM

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光学作图是一种类似于有序限制性内切酶图谱的收集基因组序列长距离信息的技术。由于它不受克隆、扩增、杂交或测序偏差的影响,因此它非常适合改进经典方法无法再改进的片段化基因组组装。此外,其低成本和快速周转使其在从高通量测序读数从头组装的支架过程中同样有用。我们描述了如何光学映射已在实践中使用,以产生高质量的脊椎动物基因组组装。特别是,我们详细介绍了基因组参考联盟(GRC)所做的努力,该联盟维护了人类、小鼠、斑马鱼和鸡的参考基因组,并使用不同的光学作图平台进行基因组策展。
Optical mapping is a technology that gathers long-range information on genome sequences similar to ordered restriction digest maps. Because it is not subject to cloning, amplification, hybridisation or sequencing bias, it is ideally suited to the improvement of fragmented genome assemblies that can no longer be improved by classical methods. In addition, its low cost and rapid turnaround make it equally useful during the scaffolding process of de novo assembly from high throughput sequencing reads. We describe how optical mapping has been used in practice to produce high quality vertebrate genome assemblies. In particular, we detail the efforts undertaken by the Genome Reference Consortium (GRC), which maintains the reference genomes for human, mouse, zebrafish and chicken, and uses different optical mapping platforms for genome curation.
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