Use of Deep Sequencing to Dectect Clonal Mutations In Sun Exposed Skin Epidermis PART2

This study aims to define the landscape of somatic mutations in sun exposed human skin by deep sequencing, analyse their frequency and use the data to infer the effect of mutations on proliferating cell behaviour. The frequency of each mutation will reflect the size of the clone of cells in the tissue sample. By analyzing small samples, clones with as few as 100 cells will be detectable. Allele frequency distributions for each mutation will be used to infer cell fate using published methods (Klein et al. 2010). This study will shed unprecedented light on the early clonal events that lead to the emergence of cancer.EGA study EGAS00001000603

本研究旨在通过深度测序（deep sequencing）解析人类日光暴露皮肤的体细胞突变（somatic mutations）全景图谱，分析各类突变的发生频率，并利用相关数据推断突变对增殖细胞行为的影响。各类突变的发生频率可反映组织样本中对应细胞克隆的规模。通过小型样本分析，即可实现对仅含100个细胞的克隆的检测。针对每一种突变的等位基因频率（allele frequency）分布，将采用已发表的研究方法（Klein等，2010）推断细胞命运。本研究将为揭示驱动癌症发生的早期克隆事件提供前所未有的见解。本研究的EGA编号为EGAS00001000603。