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Updated: Jun 19, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
07:15

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

Published on: January 16, 2019

Genomics, haplotypes and cardiovascular disease

Arun Kalyanasundaram1, Glenn S Gerhard, Kimberly A Skelding

  • 1Geisinger Medical Center, 100 N. Academy Drive, Danville, PA 17822, USA. arunk@geisinger.edu

Future Cardiology
|October 7, 2009
PubMed

Insights

Genetic and environmental factors contribute to cardiovascular disease. Advanced genomic tools and data are key to understanding genetic variants and enabling personalized medicine for heart conditions.

Area of Science:

  • Genetics
  • Cardiology
  • Genomics

Background:

  • Cardiovascular disease (CVD) arises from complex genetic and environmental interactions.
  • Specific genetic mutations are linked to inherited heart conditions like sudden cardiac death and hypertrophic cardiomyopathy.
  • Polygenic forms of CVD are increasingly studied using genomic approaches.

Purpose of the Study:

  • To explore the genetic underpinnings of cardiovascular diseases.
  • To highlight the role of genomic data in identifying disease-associated variants.
  • To emphasize the potential of personalized medicine in cardiology.

Main Methods:

  • Utilizing haplotype data for genomic mapping of genetic variants.
  • Employing genome-wide association studies (GWAS) to identify single nucleotide polymorphisms (SNPs).
  • Leveraging high-density microarrays and sequence data.

Main Results:

  • Identification of genetic variants linked to common polygenic cardiovascular diseases.
  • Application of GWAS in clinical contexts, such as in-stent restenosis.
  • Demonstration of the utility of genomic information in understanding disease etiology.

Conclusions:

  • Genomic approaches are crucial for dissecting the complex origins of cardiovascular disease.
  • The integration of high-throughput genomic tools, data, and precise phenotyping is essential for personalized cardiovascular medicine.
  • Future research directions involve further application of these tools to diverse cardiovascular conditions.

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