HeartBioPortal2.0: new developments and updates for genetic ancestry and cardiometabolic quantitative traits in diverse human populations.
HeartBioPortal2.0: new developments and updates for genetic ancestry and cardiometabolic quantitative traits in diverse human populations.
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DOI：
10.1093/database/baaa115
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发表时间：
2020-12-31
期刊：
影响因子：
--
通讯作者：
Grossman RL
中科院分区：
文献类型：
--
作者：
Khomtchouk BB;Nelson CS;Vand KA;Palmisano S;Grossman RL
心血管疾病（CVD）是全球所有性别和大多数种族和民族的主要死亡原因。然而，不同种族和民族的心血管疾病及其相关的心肾和代谢合并症的发病率不同，表明遗传易感性和发病风险以及社会经济和生活方式因素（饮食、运动等）存在差异作用于个体独特的潜在遗传背景。在这里，我们介绍了HeartBioPortal2.0，这是对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，现在可以搜索和分析与不同种族人群的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/代谢定量特征。HeartBioPortal2.0是一个基于云的计算平台和知识门户，通过一个用户友好的Web应用程序将大量CVD相关基因组数据模式整合到数据和用户之间的单一强大查询和浏览界面中，该应用程序可公开提供给科学研究界。自首次发布以来，HeartBioPortal2.0增加了新的心血管/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的遗传关联数据，如CARDIOGRAMplusC 4D，TOPMed，FinnGen，AFGen，梅萨，MEGASTROKE，UK Biobank，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性人群的支持，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在表型提供信息。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，并提供数据共享，在研究全球死亡率主要原因背后的遗传基础的背景下，将数据，存储和计算基础设施放在一起。 数据库URL：https://www.heartbioportal.com/
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. Database URL: https://www.heartbioportal.com/
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影响因子：
7.3
作者：
Gao J;Aksoy BA;Dogrusoz U;Dresdner G;Gross B;Sumer SO;Sun Y;Jacobsen A;Sinha R;Larsson E;Cerami E;Sander C;Schultz N
通讯作者：
Schultz N
实现癌症基因组数据的共同愿景。
DOI：
10.1056/nejmp1607591
发表时间：
2016-09-22
期刊：
The New England journal of medicine
影响因子：
--
作者：
Grossman RL;Heath AP;Ferretti V;Varmus HE;Lowy DR;Kibbe WA;Staudt LM
通讯作者：
Staudt LM
影响因子：
14.9
作者：
Ritchie ME;Phipson B;Wu D;Hu Y;Law CW;Shi W;Smyth GK
通讯作者：
Smyth GK
影响因子：
--
作者：
Rosch S;Rommel KP;Scholz M;Thiele H;Lurz P
通讯作者：
Lurz P
影响因子：
20.1
作者：
North BJ;Sinclair DA
通讯作者：
Sinclair DA