Paired exome analysis in urothelial carcinoma

In this study we characterized genomic alterations in two to five metachronous tumors from 29 patients initially diagnosed with early stage disease. Fourteen patients (32 tumors) had non progressive disease (NPD) and 15 patients (34 tumors) had progressive disease (PD). Whole exome sequencing (WES, ~50x mean read depth), Ultra deep targeted sequencing (~6,809x mean read depth) and whole transcriptome RNA-seq was performed for all samples. In addition multiregional WES was performed on 8 adjacent regions from a single tumor.EGA study EGAS00001001686

本研究针对29例初诊为早期疾病的患者，对其2至5枚异时性肿瘤的基因组变异特征进行了系统表征。其中14例患者（共计32枚肿瘤）表现为疾病非进展（non progressive disease, NPD），15例患者（共计34枚肿瘤）表现为疾病进展（progressive disease, PD）。所有样本均接受了全外显子组测序（whole exome sequencing, WES，平均测序深度约50×）、超深度靶向测序（Ultra deep targeted sequencing，平均测序深度约6809×）以及全转录组RNA测序。此外，本研究还对1枚肿瘤的8个相邻区域开展了多区域全外显子组测序。本研究的EGA存档编号为EGAS00001001686