肺癌是严重危害人类健康的一种恶性肿瘤，非小细胞肺癌约占肺癌80-85%，OCT4+非小细胞肺癌细胞具有显著的致瘤、转移与耐药性。单细胞分析技术为肿瘤的特异性靶向治疗策略提供了精准的研究手段。本研究通过对局限期NSCLC病人原发组织单细胞和进展期病人外周血CTC富集、捕获，进行全基因组扩增与全外显子组测序。生物信息学分析产生用于挖掘的reads，从而对每个样本的SNV/INDE，CNV进行分析。对SNV/INDEL进行重现率分析与高频突变位点筛选、外部数据比对与注释、蛋白质功能预测等；对CNV筛选gain or loss区域、基因注释与功能分析。比较病人的单细胞间、不同病人之间以及两组之间SNV/INDEL, CNV类型异同。通过单细胞WES分析，比较OCT4+原发组织单细胞与CTC在突变组水平的差异，探索局限期与进展期突变组的异同，发掘NSCLC驱动基因以及潜在的靶标突变基因。

Lung cancer is a kind of malignant tumor doing severely harm to human health, in which non-small cell lung cancer (NSCLC) accouts for 80-85% of lung cancer. OCT4+ NSCLC cells have remarkable features of tumorigenicity, metastasis and drug resistance. The single cell analysis technology proviedes precise study methods of cancer targeted therapy strategy. The whole genome amplificaiton and whole exome sequencing are carried out for singel cells which are enriched and captured from primary tumor tissue in limited stage and peripheral blood circulating tumor cell (CTC) in progressive stage. Reads ready for data mining are generated by bioinformatics analysis, SNV/INDEL and CNVs in each single cell is analyzed consequently. Reproduction rate plus filtering of high frequently mutated sites, alignment with external database and annotation, as well as protein function prediction is conducted for SNV/INDEL; Whereas, gain or loss region filtering, gene annotation and function analysis is conducted for CNVs. Following above analysis, similarity and difference comparison of SNC/INDEL, CNVs profile among single cells within one patient, among individual patients and two groups is conducted. By WES analysis, difference of OCT4+ primary tumor cells and CTCs at mutanome level is compared, it plays important role in exploring the similarity and difference of mutanome at limited and progressive stages, coupling with driver genes and potential target mutated genes mining of NSCLC.