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GenomeScope:从短读长实现快速无参基因组剖析。

GenomeScope: fast reference-free genome profiling from short reads.

机构信息

Simons Center for Quantitative Biology, Cold Spring Harbor Laboratory, Cold Spring Harbor, NY, USA.

Departments of Computer Science and Biology, Johns Hopkins University, Baltimore, MD, USA.

出版信息

Bioinformatics. 2017 Jul 15;33(14):2202-2204. doi: 10.1093/bioinformatics/btx153.

Abstract

SUMMARY

GenomeScope is an open-source web tool to rapidly estimate the overall characteristics of a genome, including genome size, heterozygosity rate and repeat content from unprocessed short reads. These features are essential for studying genome evolution, and help to choose parameters for downstream analysis. We demonstrate its accuracy on 324 simulated and 16 real datasets with a wide range in genome sizes, heterozygosity levels and error rates.

AVAILABILITY AND IMPLEMENTATION

http://genomescope.org , https://github.com/schatzlab/genomescope.git .

CONTACT

mschatz@jhu.edu.

SUPPLEMENTARY INFORMATION

Supplementary data are available at Bioinformatics online.

摘要

摘要

GenomeScope 是一个开源的网络工具,可用于快速估计基因组的整体特征,包括基因组大小、杂合率和未处理的短读序列中的重复含量。这些特征对于研究基因组进化至关重要,并有助于选择下游分析的参数。我们在 324 个模拟数据集和 16 个真实数据集上验证了其准确性,这些数据集在基因组大小、杂合率和错误率方面具有广泛的跨度。

可用性和实现

http://genomescope.orghttps://github.com/schatzlab/genomescope.git。

联系方式

mschatz@jhu.edu

补充信息

补充数据可在Bioinformatics 在线获得。

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