In cancer, copy number aberrations (CNAs) represent a type of nearly ubiquitous and frequently extensive structural genome variations. To disentangle the molecular mechanisms underlying tumorigenesis as well as identify and characterize molecular subtypes, the comparative and meta-analysis of large genomic variant collections can be of immense importance. Over the last decades, cancer genomic profiling projects have resulted in a large amount of somatic genome variation profiles, however segregated in a multitude of individual studies and datasets. The Progenetix project, initiated in 2001, curates individual cancer CNA profiles and associated metadata from published oncogenomic studies and data repositories with the aim to empower integrative analyses spanning all different cancer biologies. During the last few years, the fields of genomics and cancer research have seen significant advancement in terms of molecular genetics technology, disease concepts, data standard harmonization as well as data availability, in an increasingly structured and systematic manner. For the Progenetix resource, continuous data integration, curation and maintenance have resulted in the most comprehensive representation of cancer genome CNA profiling data with 138 663 (including 115 357 tumor) copy number variation (CNV) profiles. In this article, we report a 4.5-fold increase in sample number since 2013, improvements in data quality, ontology representation with a CNV landscape summary over 51 distinctive National Cancer Institute Thesaurus cancer terms as well as updates in database schemas, and data access including new web front-end and programmatic data access. Database URL: progenetix.org

中文翻译：

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2021 年 Progenetix 肿瘤基因组资源


在癌症中，拷贝数畸变（CNA）代表一种几乎普遍存在且经常广泛的结构基因组变异。为了阐明肿瘤发生的分子机制以及识别和表征分子亚型，大型基因组变异集合的比较和荟萃分析非常重要。在过去的几十年里，癌症基因组分析项目产生了大量的体细胞基因组变异图谱，但这些变异图谱被分散在大量的个体研究和数据集中。 Progenetix 项目于 2001 年启动，从已发表的肿瘤基因组研究和数据存储库中整理个体癌症 CNA 概况和相关元数据，旨在支持涵盖所有不同癌症生物学的综合分析。在过去的几年中，基因组学和癌症研究领域在分子遗传学技术、疾病概念、数据标准统一以及数据可用性方面取得了显着进步，并且越来越结构化和系统化。对于 Progenetix 资源，持续的数据整合、管理和维护已产生最全面的癌症基因组 CNA 分析数据，其中包括 138 663 个（包括 115 357 个肿瘤）拷贝数变异 (CNV) 概况。在本文中，我们报告了自 2013 年以来样本数量增加了 4.5 倍、数据质量、本体表示以及 51 个独特的国家癌症研究所同义词库癌症术语的 CNV 景观摘要的本体表示以及数据库模式和数据访问的更新，包括新的 Web 前端和编程数据访问。数据库网址：progenetix.org