Department of Genome Sciences, University of Washington, Seattle, WA, USA.
Bioinformatics. 2019 Aug 1;35(15):2660-2662. doi: 10.1093/bioinformatics/bty1022.
CNValidator assesses the quality of somatic copy-number calls based on coherency of haplotypes across multiple samples from the same individual. It is applicable to any copy-number calling algorithm, which makes calls independently for each sample. This test is useful in assessing the accuracy of copy-number calls, as well as choosing among alternative copy-number algorithms or tuning parameter values.
On a dataset of somatic samples from individuals with Barrett's Esophagus, CNValidator provided feedback on the correctness of sample ploidy calls and also detected data quality issues.
CNValidator is available on GitHub at https://github.com/kuhnerlab/CNValidator.
Supplementary data are available at Bioinformatics online.
CNValidator 基于同一个体的多个样本的单倍型一致性来评估体细胞拷贝数调用的质量。它适用于任何独立为每个样本进行调用的拷贝数调用算法。该测试可用于评估拷贝数调用的准确性，以及在不同的拷贝数算法或调整参数值之间进行选择。
在一个来自巴雷特食管个体的体细胞样本数据集上，CNValidator 对样本倍性调用的正确性提供了反馈，并且还检测到了数据质量问题。
CNValidator 可在 GitHub 上访问，网址为 https://github.com/kuhnerlab/CNValidator。
补充数据可在 Bioinformatics 在线获取。
