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Updated: Nov 23, 2025

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
Published on: April 4, 2018
HeartBioPortal2.0: new developments and updates for genetic ancestry and cardiometabolic quantitative traits in
Bohdan B Khomtchouk1, Christopher S Nelson2, Kasra A Vand3
1Department of Medicine, Section of Computational Biomedicine and Biomedical Data Science, University of Chicago, Chicago, IL 60637, USA.
Insights
HeartBioPortal2.0 enhances cardiovascular disease (CVD) genetic research by integrating diverse population data and quantitative traits. This platform aids in understanding the genetic basis of CVD and related conditions across various ethnicities.
Area of Science:
- Genomics
- Precision Medicine
- Cardiovascular Research
Background:
- Cardiovascular disease (CVD) is a leading global cause of mortality, with varying incidence across different racial and ethnic groups.
- Genetic predisposition, alongside socioeconomic and lifestyle factors, contributes to CVD risk and its comorbidities.
- Existing platforms may lack comprehensive data integration for diverse populations and quantitative traits relevant to CVD.
Purpose of the Study:
- To introduce HeartBioPortal2.0, a major update to the largest CVD genetics data precision medicine platform.
- To enable comprehensive search and analysis of human genetic information for heart disease across diverse ethnicities and quantitative traits.
- To provide a cloud-based, user-friendly web application for the scientific research community.
Main Methods:
- Consolidation of diverse CVD-relevant genomic data modalities into a unified query and browsing interface.
- Integration of new gene expression and genetic association data from major genome-wide association study consortiums.
- Inclusion of support for quantitative traits and ethnically diverse populations to investigate shared genetic architecture.
Main Results:
- HeartBioPortal2.0 offers a cloud-based platform with enhanced search and analysis capabilities for CVD genetic data.
- The platform now includes expanded datasets from numerous large-scale studies and supports diverse populations.
- New features facilitate the investigation of genetic architecture across the cardiometabolic spectrum, from health to disease.
Conclusions:
- HeartBioPortal2.0 significantly advances the study of CVD genetics by providing a comprehensive, accessible data commons.
- The platform's enhanced features support a deeper understanding of the genetic underpinnings of CVD and related traits in diverse populations.
- HeartBioPortal2.0 re-imagines the user experience for CVD genetic research, facilitating discoveries into the leading cause of global mortality.
Abstract:
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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