Additional file 1 of A highly sensitive and specific workflow for detecting rare copy-number variants from exome sequencing data

Additional file 1: Table S1. Details of the high-quality true-positive CNVs from SNP array and the exome validation status. Table S2. List of exons in disease-associated genes that were excluded based on a mean mappabilty score of 0.75 or less. Table S3. Details of the CNVs used for false-discovery rate estimation against WGS data. Table S4. Details of the ES false negatives and SNP array false positive CNVs. Table S5. Details of CNVs that overlapped 10 SNPs in the SNP array and reviewed for determining false-discovery rate against SNP array.

附加文件1：表S1收录了源自单核苷酸多态性阵列（SNP array）的高质量真阳性拷贝数变异（CNVs，Copy Number Variations）的相关细节及其外显子组验证状态。表S2列出了基于平均可比对性得分≤0.75而被排除的疾病相关基因外显子列表。表S3收录了用于以全基因组测序（WGS，Whole Genome Sequencing）数据为参照开展假发现率估计的拷贝数变异的相关细节。表S4收录了外显子组测序（ES，Exome Sequencing）假阴性结果与单核苷酸多态性阵列假阳性拷贝数变异的相关细节。表S5收录了与单核苷酸多态性阵列上10个单核苷酸多态性位点（SNPs，Single Nucleotide Polymorphisms）存在重叠、且经评审以确定以该阵列为参照的假发现率的拷贝数变异的相关细节。