HumanCVD Whole-Genome Genotyping Kits

The HumanCVD BeadChip is the first high-density single nucleotide polymorphism (SNP) genotyping standard panel specifically targeted for cardiovascular disease (CVD) studies. The BeadChip features nearly 50,000 markers that capture genetic diversity across approximately 2,100 genes associated with CVD processes such as blood pressure changes, insulin resistance, metabolic disorders, dyslipidemia, and inflammation.

The content of this BeadChip was validated using 117 HapMap samples and targets regions associated with a range of cardiovascular, metabolic, and inflammatory syndromes, which can be divided into three broad groups:

 

• Group 1 loci comprise approximately 435 genes and regions with a high likelihood of functional significance. Tag SNPs derived from the HapMap Project and SeattleSNPs data sets were selected to capture all known variants in these regions

 

 

• Group 2 loci, also based on HapMap Project and SeattleSNPs data, are a set of 1,349 loci potentially involved in cardiovascular pathologies and other metabolic, heart, lung, blood, or circadian phenotypes

 

 

• Group 3 loci comprise approximately 232 larger genes which were of lower interest to the CVD consortium investigators. Only nonsynonymous SNPs and known functional variants were included from these regions

 

The HumanCVD BeadChip also contains more than 1,500 admixture and ancestry informative SNP markers (AIMs) for African versus European ancestry, and it features 400 AIMs for regional European ancestral populations.

This BeadChip was developed in collaboration with researchers from the Institute of Translational Medicine and Therapeutics, the Broad Institute, SeattleSNPs, and the Candidate-gene Association Resource (CARe).

The HumanCVD BeadChip is a multi-sample genotyping panel powered by Illumina’s Infinium  Assay. This revolutionary assay provides the industry’s highest call rates, allows for flexible content deployment, and enables the detection and measurement of copy number variation.