Additional file 1 of A comprehensive DNA panel next generation sequencing approach supporting diagnostics and therapy prediction in neurooncology

Additional file 1: Supplementary Table 1. Genes and chromosomal regions included in the targeted DNA panel. Most genes were covered using the CDS, for some well-known mutations only hotspot regions were targeted with SNP/small InDel calling being performed (SNP). Chromosomal regions were covered with commonly heterozygous SNPs for LOH and CNV analyzes. Genes included in LOH and CNV analysis were additionally covered with commonly heterozygous SNPs in intronic regions. Variations of genes and chromosomal regions may either be characteristic for a specific tumor entity (diagnostic), indicate actionable mutations for targeted therapies (targetable) and/or drug resistance (resistance) or be associated with impaired DDR. CDS: complete coding sequence, CNV: copy number variations, DDR: DNA damage response, LOH: loss of heterozygosity, SNP: single nucleotide variant.

附加文件1：补充表1。本研究所用靶向DNA检测panel（targeted DNA panel）所涵盖的基因与染色体区域。多数基因通过完整编码序列（complete coding sequence, CDS）进行覆盖；针对部分已知突变，仅靶向其热点区域，并开展单核苷酸变异（single nucleotide variant, SNP）/小插入缺失（small InDel）的变异检出分析。染色体区域通过常见杂合性SNP覆盖，用于杂合性缺失（loss of heterozygosity, LOH）与拷贝数变异（copy number variations, CNV）分析。用于LOH与CNV分析的基因，还额外通过内含子区域的常见杂合性SNP进行覆盖。基因与染色体区域的变异，既可为特定肿瘤实体的特征性标志物（诊断相关），也可提示适用于靶向治疗的可干预突变（可靶向）、或与耐药性相关（耐药相关），还可能与DNA损伤应答（DNA damage response, DDR）功能受损相关。缩写说明：CDS指完整编码序列，CNV指拷贝数变异，DDR指DNA损伤应答，LOH指杂合性缺失，SNP指单核苷酸变异。