Settings used for each of the four software suites.

For HelixTree and Partek, default settings were used; normalization was done before CNV calling. For PennCNV-Affy, the standard procedure was followed without wave adjustment. For Birdsuite, population-specific prior models were employed.*Platewise normalization was done by Affy Power Tools (APT1.10.0) plug in Birdsuite/PennCNV-Affy.**Normalization was done by HelixTree.***For Canary, the appropriate prior model was selected based on the ancestry of the sample.针对HelixTree与Partek，均使用默认参数设置；已在拷贝数变异（CNV, Copy Number Variation）检测前完成归一化处理。针对PennCNV-Affy，遵循标准流程且未进行波形校正。针对Birdsuite，采用种群特异性先验模型。*板间归一化由适配Birdsuite/PennCNV-Affy的Affy功率工具（APT1.10.0）插件完成。**归一化处理由HelixTree实现。***针对Canary，根据样本的祖先信息选取适配的先验模型。