Cardiovascular Disease Research

Genomic research and cardiovascular health

Tools and methods to advance cardiovascular research

cardiovascular genomics researchers

Research tools for cardiovascular research

Next-generation sequencing (NGS) is a powerful tool to reveal how genes affect cardiovascular disease. These NGS-driven advances are enabled by a growing option of tools and applications available to researchers. Even the discovery of a single gene can reveal vast insights into the complex nature of cardiovascular genetics.

Illumina sequence hub prs

Estimating cardiovascular disease risk with polygenic risk scores

Polygenic risk scores (PRS) are an estimate of an individual's genetic risk for a specific trait or condition, obtained by aggregating and quantifying the effect of many common variants. Using PRS, in addition to typical screening methods, can help to identify individuals at risk for coronary artery disease that could have otherwise been missed.1

chipseq workflow

Going beyond DNA sequence changes

Epigenetics is the study of chemical modifications that occur to the genome that regulate gene expression at the DNA, RNA, and histone level through methylation, acetylation, ubiquitination, and phosphorylation. Epigenetic based therapies, or epi-drugs, continue to be explored and developed for potential treatment options. Some existing drugs used to treat heart failure have known epigenetic effects, including statins, metformin, apresoline, and SGLT2 inhibitors.2

ngs protein analysis

NGS and protein analysis

Proteomics is the study of a protein’s structure, function, and regulation. NGS-powered assays in proteomics can be used to better understand functional relationships between genes and proteins in bulk cell populations or even at the level of single cells. In some cases, this approach enables researchers to study these relationships within the context of preserved tissues.

download ebook about the power of multiomics
Multiomics multiplies your discovery power

See how you can use multiomics to better connect genotype to phenotype and obtain a full cellular readout not found through single omics approaches.

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wgs research discoveries

Enhancing research discoveries with whole-genome sequencing

Whole-genome sequencing (WGS) is a powerful and comprehensive tool to analyze entire genomes, allowing researchers to identify inherited disorders such as those for heart disease. This approach has identified causative gene variants in which prior genetic testing was inconclusive or negative.3,4 WGS can also pave the way for future applications to detect single nucleotide variants, insertions/deletions, copy number changes, and large structural variants.

Learn more about WGS

TruSight One Expanded Sequencing Panels image
Featured Product
TruSight One Expanded Sequencing Panels

The TruSight One Expanded Panels provide clinical research labs with an affordable solution for managing a diverse assay portfolio. Investigators can choose to analyze all genes on a panel or focus on a specific subset. With a single assay, labs can expand existing menus, streamline workflows, or create an entire portfolio of sequencing options. This assay offers 181 cardiac genes related to 18 inherited cardiac conditions (ICCs).

Cardiac conditions covered by TruSight One Expanded Sequencing Panels*
  • Familial atrial fibrillation (21)
  • Long QT syndromes (15)
  • Brugada syndrome (13)
  • CPVT: catecholaminergic polymorphic ventricular tachycardia (6)
  • Short QT syndrome (4)
  • Dilated cardiomyopathy (59 genes covered)
  • Hypertrophic cardiomyopathy (50)
  • ARVC: arrhythmogenic right ventricular cardiomyopathy (11)
  • Noonan syndrome (11)
  • Non-compaction cardiomyopathy (10)
  • Restrictive cardiomyopathy (9)
  • Familial aortic aneurysm (16)
  • Heritable thoracic aortic dissection (4)
  • Loeys-Dietz syndrome (4)
  • Aortic valve disease (3)
  • Marfan syndrome (3)
Other cardiac conditions
  • Structural heart disease (15)
  • Familial hypercholesterolemia (10)

*Numbers represent number of associated genes on the TruSight One Expanded Panels.

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Cardiovascular genetics for providers

Read the benefits of cardiovascular disease genomics on the diagnosis, management, and treatment of patients. Get updated guidelines from leading professional medical societies.

cardiovascular genomics overview
Cardiovascular genomics overview

See the compelling case for genetic sequencing to improve our understanding of cardiovascular related diseases.

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Featured experts on cardiovascular genomics

Interview: pharmacogenetics of cardiovascular disease therapy
Improving cardiovascular therapies through pharmacogenomics

Pharmacogenomics can reveal how a patient responds to drugs and serve as an important tool to identify efficacy. In this interview, Dr. Marie-Pierre Dubé, PhD discusses how she identified genotypes of responders and nonresponders using Illumina technologies.

Webinar: cardiovascular outcomes and genetic testing
Can genetic testing improve cardiovascular outcomes?

In this webinar, Dr. Joshua Knowles discusses the importance of genetic cascade testing in familial hypercholesteremia, as well as implementing polygenic risk scores in clinical care.

Podcast: genetics to predict heart attack risk
Using genetics to predict heart attack risk

In this podcast, Dr. Guillaume Paré discusses how genetics can help identify people at risk for familial hypercholesterolemia and early cardiovascular disease.

Related content

Precision genomics

Genomics-powered precision medicine can help identify disease-associated variants, pinpoint the underlying genetic causes of diseases, and optimize management and treatments.

Polygenic risk scores

These scores represent the number of genetic variants an individual has that increase their risk of developing a particular disease. Explore key considerations and future uses.

  1. Mujwara D, Henno G, Vernon ST, et al. Integrating a Polygenic Risk Score for Coronary Artery Disease as a Risk-Enhancing Factor in the Pooled Cohort Equation: A Cost-Effectiveness Analysis Study. J Am Heart Assoc. 2022;11(12):e025236. doi:10.1161/JAHA.121.025236
  2. Gorica E, Mohammed SA, Ambrosini S, Calderone V, Costantino S, Paneni F. Epi-Drugs in Heart Failure. Front Cardiovasc Med. 2022;9:923014. Published 2022 Jul 13. doi:10.3389/fcvm.2022.923014
  3. Kalayinia S, Goodarzynejad H, Maleki M, Mahdieh N. Next generation sequencing applications for cardiovascular disease. Ann Med. 2018;50(2):91-109. doi:10.1080/07853890.2017.1392595
  4. Bagnall RD, Ingles J, Dinger ME, et al. Whole Genome Sequencing Improves Outcomes of Genetic Testing in Patients With Hypertrophic Cardiomyopathy. J Am Coll Cardiol. 2018;72(4):419-429. doi:10.1016/j.jacc.2018.04.078