Cardiovascular disease (CVD) is the leading cause of death worldwide for all genders and across most racial and ethnic groups. However, different races and ethnicities exhibit different rates of CVD and its related cardiorenal and metabolic comorbidities, suggesting differences in genetic predisposition and risk of onset, as well as socioeconomic and lifestyle factors (diet, exercise, etc.) that act upon an individual’s unique underlying genetic background. Here, we present HeartBioPortal2.0, a major update to HeartBioPortal, the world’s largest CVD genetics data precision medicine platform for harmonized CVD-relevant genetic variants, which now enables search and analysis of human genetic information related to heart disease across ethnically diverse populations and cardiovascular/renal/metabolic quantitative traits pertinent to CVD pathophysiology. HeartBioPortal2.0 is structured as a cloud-based computing platform and knowledge portal that consolidates a multitude of CVD-relevant genomic data modalities into a single powerful query and browsing interface between data and user via a user-friendly web application publicly available to the scientific research community. Since its initial release, HeartBioPortal2.0 has added new cardiovascular/renal/metabolic disease–relevant gene expression data as well as genetic association data from numerous large-scale genome-wide association study consortiums such as CARDIoGRAMplusC4D, TOPMed, FinnGen, AFGen, MESA, MEGASTROKE, UK Biobank, CHARGE, Biobank Japan and MyCode, among other studies. In addition, HeartBioPortal2.0 now includes support for quantitative traits and ethnically diverse populations, allowing users to investigate the shared genetic architecture of any gene or its variants across the continuous cardiometabolic spectrum from health (e.g. blood pressure traits) to disease (e.g. hypertension), facilitating the understanding of CVD trait genetics that inform health-to-disease transitions and endophenotypes. Custom visualizations in the new and improved user interface, including performance enhancements and new security features such as user authentication, collectively re-imagine HeartBioPortal’s user experience and provide a data commons that co-locates data, storage and computing infrastructure in the context of studying the genetic basis behind the leading cause of global mortality.

中文翻译：

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HeartBioPortal2.0：不同人群中遗传祖先和心脏代谢数量性状的新发展和更新

心血管疾病 (CVD) 是全世界所有性别以及大多数种族和族裔群体的主要死因。然而，不同的种族和民族表现出不同的心血管疾病发生率及其相关的心肾和代谢合并症，这表明遗传易感性和发病风险以及影响个体独特性的社会经济和生活方式因素（饮食、运动等）存在差异。潜在的遗传背景。在这里，我们展示了 HeartBioPortal2.0，它是 HeartBioPortal 的重大更新，HeartBioPortal 是世界上最大的 CVD 遗传学数据精准医学平台，用于协调 CVD 相关的遗传变异，现在可以在不同种族的人群中搜索和分析与心脏病相关的人类遗传信息，以及与 CVD 病理生理学相关的心血管/肾脏/代谢数量特征。HeartBioPortal2.0 被构建为一个基于云的计算平台和知识门户，通过一个用户友好的网络应用程序，将大量与 CVD 相关的基因组数据模式整合到一个强大的查询和数据和用户之间的浏览界面中，该应用程序对科学公开研究社区。自首次发布以来，HeartBioPortal2.0 添加了新的心血管/肾脏/代谢疾病相关基因表达数据以及来自众多大规模全基因组关联研究联盟（如 CARDIoGRAMplusC4D、TOPMed、FinnGen、AFGen、MESA）的遗传关联数据, MEGASTROKE, 英国生物银行, CHARGE、Biobank Japan 和 MyCode 等研究。此外，HeartBioPortal2.0 现在包括对数量性状和种族多样化人群的支持，允许用户研究从健康（例如血压性状）到疾病（例如高血压）的连续心脏代谢谱中任何基因或其变体的共享遗传结构，促进对 CVD 性状遗传学的理解，这些遗传学为健康到疾病的转变和内表型提供信息。新的和改进的用户界面中的自定义可视化，包括性能增强和新的安全功能，如用户身份验证，共同重新想象 HeartBioPortal 的用户体验，并提供共同定位数据的数据共享，