neomerDB:癌症中新聚物生物标志物的综合数据库。

IF 2.7 4区 生物学 Q1 MATHEMATICAL & COMPUTATIONAL BIOLOGY
Kimonas Provatas, Candace S Y Chan, Ioannis Kerasiotis, Eleftherios Bochalis, Akshatha Nayak, Brad E Zacharia, Georgios A Pavlopoulos, Wei Li, Ilias Georgakopoulos-Soares
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引用次数: 0

摘要

用于人群筛查、早期癌症检测、监测和复发监测的生物标志物的发展为改善患者预后和挽救生命提供了巨大的潜力。零聚体是人类基因组中缺失的短k-mers,而新聚体是在癌症发展过程中由于体细胞突变而反复出现的零聚体的子集。在这里,我们开发了neomerDB,这是一个包含癌症类型和器官的neomerDB目录的数据库。我们检查了10,000个全外显子组测序和2658个肿瘤匹配样本的全基因组测序,并确定了与每种癌症类型和器官相关的一组新显子组。我们还分析了来自不同祖先的个体的76215个全基因组和730947个全外显子组,从中我们去除了由于种群中种系变异而可能产生的零粒和新聚体。最后,我们进行了一个案例研究,证明新分子可以利用无细胞DNA和无细胞RNA从液体活检样本(n = 38)中检测胶质母细胞瘤,获得了0.98的接受者工作特征-曲线下面积评分和0.99的精确召回率评分。neomerDB是一个用户友好的数据库,支持高级搜索,提供交互式可视化和新生物标记物的下载选项。neomerDB可以在https://neomerDB.com/上公开获取。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
neomerDB: a comprehensive database of neomer biomarkers in cancer.

The development of biomarkers for population screening, early cancer detection, monitoring, and recurrence surveillance offers substantial potential to improve patient outcomes and save lives. Nullomers are short k-mers that are absent from a human genome, and neomers are the subset of nullomers that emerge recurrently due to somatic mutations during cancer development. Here, we have developed neomerDB, a database that encompasses a catalogue of neomers across cancer types and organs. We examined 10 000 whole exome sequencing and 2658 whole genome sequencing tumour-matched samples and identified the set of neomers associated with each cancer type and organ. We also analysed 76 215 whole genomes and 730 947 whole exomes of individuals from diverse ancestries, from which we removed nullomers and neomers that can arise due to germline variants in the population. Finally, we conducted a case study demonstrating that neomers can be utilized to detect glioblastoma from liquid biopsy samples (n = 38), utilizing cell-free DNA and cell-free RNA, achieving a Receiver Operating Characteristic - Area Under the Curve score of 0.98 and a precision-recall score of 0.99. neomerDB is a user-friendly database that enables advanced searches, provides interactive visualizations, and download options for neomer biomarkers. neomerDB is publicly available at https://neomerDB.com/.

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来源期刊
Database: The Journal of Biological Databases and Curation
Database: The Journal of Biological Databases and Curation MATHEMATICAL & COMPUTATIONAL BIOLOGY-
CiteScore
9.00
自引率
3.40%
发文量
100
审稿时长
>12 weeks
期刊介绍: Huge volumes of primary data are archived in numerous open-access databases, and with new generation technologies becoming more common in laboratories, large datasets will become even more prevalent. The archiving, curation, analysis and interpretation of all of these data are a challenge. Database development and biocuration are at the forefront of the endeavor to make sense of this mounting deluge of data. Database: The Journal of Biological Databases and Curation provides an open access platform for the presentation of novel ideas in database research and biocuration, and aims to help strengthen the bridge between database developers, curators, and users.
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