Additional file 1 of Development and validation of next generation sequencing based 35-gene hereditary cancer panel

Additional file 1: Table S1. Known associations between genes in the 35-gene hereditary cancer panel and caner type. Table S2. Prenetics hereditary cancer panel reportable range. Table S3. Quality control metrics. Table S4. Exonic coverage of 35 hereditary cancer genes based on a benchmark sequencing run with 43 samples. Table S5. Summary of Coriell samples (1000 Genome) used for assessment of SNV and indel detection. Table S6. Summary of 53 Coriell samples used for assessment of SNV and indel detection and interpretation. Table S7. Technically challenging variants in the present validation.附加文件1：表S1。35基因遗传性癌症基因检测面板（hereditary cancer panel）中各基因与癌症类型的已知关联。表S2：Prenetics遗传性癌症基因检测面板的可报告范围。表S3：质量控制指标。表S4：基于43份样本的基准测序运行所得的35个遗传性癌症基因的外显子覆盖度。表S5：用于评估单核苷酸变异（Single Nucleotide Variant, SNV）与插入缺失（insertion-deletion, indel）检测的科里尔（Coriell）样本（1000 Genomes项目）汇总。表S6：用于评估单核苷酸变异（SNV）与插入缺失（indel）检测及结果解读的53份科里尔（Coriell）样本汇总。表S7：本次验证中具有技术挑战性的变异位点。