MutWP5 CRUK Mutographs of Cancer Lung PD37920 WG

Sequencing of LCM-derived microbiopsies from explanted lung from COPD patient. Goal to assess the mutational burden, spectrum, and clonal dynamics within the tissue. Deep sampling throughout multiple regions of the lung will determine whether there are differences in smoking-related mutation burden in different portions of the lung. Whole-genome sequencing will be conducted on samples identified as promising from the initial targeted data. Results from this portion of the study will be compared to other individuals with smoking-related diseases (COPD, pulmonary fibrosis, lung cancer), and normal, non-smoking lungs.EGA study EGAS00001003320

本数据集针对慢性阻塞性肺疾病（Chronic Obstructive Pulmonary Disease, COPD）患者离体肺组织中通过激光捕获显微切割（Laser Capture Microdissection, LCM）获取的显微活检样本开展测序分析。本研究的核心目标为评估该组织内的突变负荷、突变谱与克隆动态。通过对肺部多个区域进行深度采样，旨在明确吸烟相关突变负荷在肺内不同部位是否存在差异。本研究将对初始靶向测序数据筛选出的优质样本实施全基因组测序（Whole-genome sequencing）。本部分研究结果将与其他吸烟相关疾病患者（包括慢性阻塞性肺疾病、肺纤维化、肺癌）以及正常非吸烟肺组织的相关结果进行对比分析。本研究属于欧洲基因组-表型组档案（European Genome-phenome Archive, EGA）收录的EGAS00001003320号研究。