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得到的35个遗传性癌症基因外显子覆盖度。
表S5. 用于单核苷酸变异（SNV）和插入缺失变异（indel）检测性能评估的科里尔（Coriell）样本（1000基因组计划）汇总。
表S6. 用于单核苷酸变异（SNV）和插入缺失变异（indel）检测与变异解读性能评估的53份科里尔样本汇总。
表S7. 本次验证中涉及的技术挑战性变异。