CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
CoNVaDING: Single Exon Variation Detection in Targeted NGS Data
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DOI：
10.1002/humu.22969
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发表时间：
2016-05-01
期刊：
影响因子：
3.9
通讯作者：
Sikkema-Raddatz, Birgit
中科院分区：
文献类型：
--
作者：
Johansson, Lennart F.;van Dijk, Freerk;Sikkema-Raddatz, Birgit
我们开发了一个用于检测目标下一代测序数据中的单个外显子拷贝数变异(CNV)的工具：CoNVaDING(下一代测序基因面板中的拷贝数变异检测)。CoNVaDING包括一个严格的质量控制(QC)指标，排除或标记低质量的外显子。由于这种QC准确地显示了哪些外显子可以可靠地分析，哪些外显子需要替代分析方法，CoNVaDING不仅对研究环境中的CNV检测有用，而且在临床诊断中也是有用的。在验证阶段，CoNVaDING在分析的320个样本中检测到高质量靶标中的所有已知CNV，对308,574个外显子给出了100%的敏感性和99.998%的特异性。CoNVaDING表现出更高的灵敏度和特异度，并通过精确识别低质量的样本和区域，因此优于现有的工具。
We have developed a tool for detecting single exon copy-number variations (CNVs) in targeted next-generation sequencing data: CoNVaDING (Copy Number Variation Detection In Next-generation sequencing Gene panels). CoNVaDING includes a stringent quality control (QC) metric, that excludes or flags low-quality exons. Since this QC shows exactly which exons can be reliably analyzed and which exons are in need of an alternative analysis method, CoNVaDING is not only useful for CNV detection in a research setting, but also in clinical diagnostics. During the validation phase, CoNVaDING detected all known CNVs in high-quality targets in 320 samples analyzed, giving 100% sensitivity and 99.998% specificity for 308,574 exons. CoNVaDING outperforms existing tools by exhibiting a higher sensitivity and specificity and by precisely identifying low-quality samples and regions.