IV.4_p0.vcf

Somatic mutations observed in single-cell derived colony from fibroblast of individual IV.4 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.

本实验起始时间点下，个体IV.4成纤维细胞来源的单细胞衍生集落中检测到的体细胞突变（Somatic mutation）。本次突变调用通过Mutect2工具完成；以对应个体的正常组织（血液、颊拭子样本或成纤维细胞）的基因组DNA测序数据作为配对正常对照DNA。正常样本池（Panel of Normals，即Mutect2的参数--panel-of-normals）由所有可用的测序血液样本构建得到；将gnomAD数据库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的参数--germline-resource。本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。