forestSV: structural variant discovery through statistical learning.

forestSV: structural variant discovery through statistical learning.
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DOI:
10.1038/nmeth.2085
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发表时间:
2012-07-01
期刊:
影响因子:
48
通讯作者:
Sebat, Jonathan
Sebat, Jonathan
中科院分区:
生物学1区
文献类型:
--
作者:
Michaelson, Jacob J.;Sebat, Jonathan

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从高通量测序数据中检测基因组结构变异是一项复杂且未解决的挑战。我们已经开发了一种基于随机森林的统计学习方法,该方法集成了关于结构变异特征的先验知识,并导致高通量测序数据的改进发现。这项技术的实施,即forestSV,提供了高灵敏度和特异性,加上数据驱动方法的灵活性。
Detecting genomic structural variants from high-throughput sequencing data is a complex and unresolved challenge. We have developed a statistical learning approach, based on Random Forests, which integrates prior knowledge about the characteristics of structural variants and leads to improved discovery in high throughput sequencing data. The implementation of this technique, forestSV, offers high sensitivity and specificity coupled with the flexibility of a data-driven approach.
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