III.2_p0.vcf

Somatic mutations observed in single-cell derived colony from fibroblast of individual III.2 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.本实验于起始时间点，从个体III.2的成纤维细胞单细胞衍生集落中检测得到体细胞突变。本次分析的突变识别通过Mutect2工具完成，采用该对应个体的正常组织（血液、口腔拭子或成纤维细胞）的全基因组测序数据作为匹配正常对照DNA；通过全部可用的已测序血液样本构建正常对照样本集，该样本集作为Mutect2工具的--panel-of-normals参数输入；将gnomAD数据库中的群体等位基因频率用作生殖系变异检测的先验信息（对应Mutect2工具的--germline-resource参数）；最终仅选取变异等位基因频率（vaf）介于0.25至0.75之间的突变用于分析。