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Background: Ovarian cancer (OC) is the most frequent cause of deaths in gynecologic malignancies. Mechanisms have been proposed via RNAseq and DNAseq technique recently. However, the driving factors are still obscure. The possible reasons are attributed to the incomplete human reference. Methods: This study integrated the mapping-based and mapping-free protocol to achieve a comprehensive analysis of OC patients. Findings: We eventually obtained 450 reliable single nucleotide variants (SNVs) from the whole exome sequencing (WES) data and novel events from the RNAseq data, including 154 SNVs, 462 intron events, two repeats and six splice events. We identified six differentially expressed genes and six contigs that are significantly related to survival prognosis. Interpretation: This study integrated the mapping-based and mapping-free protocol to achieve comprehensive analysis of OC patients. Both RNAseq and WES data were applied to obtain novel transcriptional events and convincing SNVs. The novel events were validated using an independent cohort of 20 Chinese OC patients. Funding: This study was supported by the Natural Science Foundation of Zhejiang Province (Grant No. Q20H160028, LYY19H310001), Medical and Health Research Project of Zhejiang Province (2020KY059, 2021KY589). Declaration of Interests: The authors declare that they have no competing interests. Ethics Approval Statement: All procedures performed in this study involving human participants were consistent with the ethics standards of the Declaration of Helsinki and its later amendments or comparable ethics standards. The ethics committee of Zhejiang Cancer Hospital approved this study. All tissues were collected from the biobank of Zhejiang Cancer Hospital (Reference number IRB-2019-5). |
