Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
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DOI：
10.1093/bioinformatics/btr462
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发表时间：
2011-10-01
期刊：
影响因子：
5.8
通讯作者：
Nelson, Stanley F.
中科院分区：
文献类型：
--
作者：
Sathirapongsasuti, Jarupon Fah;Lee, Hane;Nelson, Stanley F.
动机：检测拷贝数变化（CNV）的能力和外显子测序数据中的杂合性（LOH）的丢失扩展了这种强大方法的实用性，该方法主要用于点或小插入/删除检测。 ，一种使用映射的简短序列读取的横幅和B-贵族频率来检测CNV和LOH的统计方法，我们评估了该方法的功率和混杂变量的效果。我们将我们的方法应用于癌症外显子组重新陈述数据集。正如预期的那样，准确性和分辨率取决于覆盖深度和捕获探针设计。
Motivation: The ability to detect copy-number variation (CNV) and loss of heterozygosity (LOH) from exome sequencing data extends the utility of this powerful approach that has mainly been used for point or small insertion/deletion detection.Results: We present ExomeCNV, a statistical method to detect CNV and LOH using depth-of-coverage and B-allele frequencies, from mapped short sequence reads, and we assess both the method's power and the effects of confounding variables. We apply our method to a cancer exome resequencing dataset. As expected, accuracy and resolution are dependent on depth-of-coverage and capture probe design.