IV.6_p0.vcf

Somatic mutations observed in single-cell derived colony from fibroblast of individual IV.6 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.

本数据集收录了个体IV.6的成纤维细胞单细胞来源集落在实验起始时间点所观测到的体细胞突变。所有突变均通过Mutect2工具完成调用。分析采用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配对正常DNA；基于所有已获取的测序血液样本构建了正常样本面板（--panel-of-normals，Mutect2参数）；并以基因组聚合数据库（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（Variant Allele Frequency，VAF）介于0.25至0.75之间的突变用于后续研究。