IV.3_p0.vc

Somatic mutations observed in single-cell derived colony from fibroblast of individual IV.3 at the start time point of the experiment. Mutations were called using Mutect2. DNA genome sequencing data available from normal tissue (blood, buccal swab or fibroblasts) from the corresponding individual was used as matched normal DNA. Panel of normals (--panel-of-normals Mutect2 argument) was created from all available sequenced blood samples. The population allele frequencies in gnomAD were used as a prior for germline variant detection (--germline-resource Mutect2 argument). Only mutations with vafs between 0.25 and 0.75 were selected for the analysis.本数据集收录了实验起始时间点下，取自个体IV.3成纤维细胞的单细胞衍生集落中观测到的体细胞突变。突变检出通过Mutect2工具完成。以该对应个体的正常组织（血液、颊拭子样本或成纤维细胞）的全基因组测序数据作为匹配正常DNA对照。基于所有已获取的测序血液样本构建了正常样本集，该集合对应Mutect2的--panel-of-normals参数。采用基因组聚合数据库（gnomAD）中的群体等位基因频率作为生殖系变异检测的先验信息，对应Mutect2的--germline-resource参数。本次分析仅选取变异等位基因频率（VAF）介于0.25至0.75之间的突变进行后续研究。