HeartBioPortal2.0

HeartBioPortal2.0 aggregates and harmonizes cardiovascular genetics and genomics data to enable analysis of genetic associations and cardiometabolic quantitative traits across ethnically diverse populations.

Key Features:

• Extensive Data Integration: Consolidates next-generation sequencing data from multiple modalities and provides access to 44,988 human genic and intergenic regions and 6,906,292 variants across 37 cardiovascular diseases and 56 cardiometabolic quantitative traits.
• Ethnically Diverse Population Support: Incorporates data from diverse racial and ethnic groups to enable analyses of population-specific genetic predisposition and allele frequency differences.
• Comprehensive Genetic Data Sources: Integrates gene expression data and genetic association data from GWAS consortia including CARDIoGRAMplusC4D, TOPMed, FinnGen, AFGen, MESA, MEGASTROKE, UK Biobank, CHARGE, Biobank Japan, and MyCode.
• Quantitative Trait Analysis: Supports investigation of quantitative cardiometabolic traits across a spectrum from health (e.g., blood pressure) to disease (e.g., hypertension).

Scientific Applications:

• Genetic basis of CVD: Identify and analyze genetic variants and loci associated with cardiovascular diseases.
• Shared genetic architectures: Examine shared genetic architecture and pleiotropy across continuous cardiometabolic spectra.
• Health-to-disease transitions and endophenotypes: Analyze quantitative trait trajectories and endophenotypes to study transitions from health to cardiovascular disease.

Methodology:

Harmonizes CVD-relevant genetic variants and integrates next-generation sequencing data, gene expression data, and genetic association summary statistics from GWAS consortiums.