Additional file 3 of nanotatoR: a tool for enhanced annotation of genomic structural variants

Additional file 3: Supplementary Table S2. Primary gene list generated for NA24385 (GM24385) dataset filtration using the term Osteoporosis. A total of 307 genes were extracted (the UGT2B17 gene is highlighted). Columns show: Genes: Primary gene symbols. Terms: Query term associated with each gene. Each cell shows the gene symbol and, between parentheses, the query term and the database (Gene, OMIM, GTR or ClinVar) from which each gene was extracted. Clinical Significance: Only genes for which likely pathogenic or pathogenic variants were found in ClinVar are displayed in this column. The parentheses match the database order in column 2, displayed as (−, −, Pathogenic/Likely Pathogenic) to indicate the information is from ClinVar and not Gene or OMIM.

附加文件3：补充表S2。本表格为针对NA24385（GM24385）数据集，以骨质疏松（Osteoporosis）为筛选条件生成的核心基因列表。共提取得到307个基因，其中UGT2B17基因已被高亮标注。各列信息如下：
1. 基因（Genes）：核心基因符号；
2. 检索术语（Terms）：与各基因关联的检索术语，每个单元格包含基因符号，以及括号内标注的检索术语和该基因的来源数据库，包括基因数据库（Gene）、在线人类孟德尔遗传数据库（OMIM）、遗传检测登记库（GTR）或临床变异数据库（ClinVar）；
3. 临床意义（Clinical Significance）：本列仅收录在临床变异数据库（ClinVar）中被鉴定存在可能致病性或致病性变异的基因。括号内内容与第2列的数据库顺序一一对应，格式为(−, −, Pathogenic/Likely Pathogenic)，用以表明该信息来源于临床变异数据库（ClinVar），而非基因数据库（Gene）或在线人类孟德尔遗传数据库（OMIM）。