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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
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Genetic Screens02:46

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Blood Studies for Cardiovascular System II: CRP, Hcy, and Cardiac Natriuretic Peptide Markers01:19

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Cardiac biomarkers are critical in diagnosing, prognosing, and managing cardiovascular diseases. Routine measurement of specific biomarkers such as B-type natriuretic peptide (BNP), C-reactive protein (CRP), and homocysteine (Hcy) is common practice in clinical settings to evaluate heart function and predict cardiovascular events.
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Assessment of the Cardiovascular System I: Subjective Data01:23

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A thorough health history and physical assessment are essential for identifying cardiovascular disease (CVD) symptoms and distinguishing them from other health issues.
Initial Enquiry
Ask the patient about their primary concern and thoroughly explore all reported symptoms.
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Human Genetics01:28

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
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Animal Mitochondrial Genetics02:59

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Among all the organelles in an animal cell, only mitochondria have their own independent genomes. Animal mitochondrial DNA is a double-stranded, closed-circular molecule with around 20,000 base pairs. Mitochondrial DNA is unique in that one of its two strands, the heavy, or H, -strand is guanine rich, whereas the complementary strand is cytosine rich and called the light, or L, -strand. Compared to nuclear DNA, mitochondrial DNA has a very low percentage of non-coding regions and is marked by...
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Related Experiment Video

Updated: Jun 29, 2025

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Genetic testing in cardiovascular disease.

Michael P Gray1,2, Diane Fatkin3, Jodie Ingles4

  • 1University of Sydney, Sydney, NSW.

The Medical Journal of Australia
|April 4, 2024
PubMed
Summary
This summary is machine-generated.

Genetic testing is advancing cardiovascular disease (CVD) risk prediction. Polygenic risk scores offer new avenues for personalized prevention strategies, moving beyond traditional genetic testing for inherited CVDs.

Keywords:
Genetic testing

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Area of Science:

  • Genetics
  • Cardiology
  • Bioinformatics

Background:

  • Cardiovascular disease (CVD) is a major global health burden, causing significant mortality and morbidity.
  • Advances in technology and bioinformatics enable identification of genetic variants linked to specific inherited CVDs like familial hypercholesterolaemia.
  • Genetic testing for CVD is becoming more accessible and affordable.

Purpose of the Study:

  • To explore the role of genetics in common cardiovascular diseases.
  • To discuss the application of polygenic risk scores for complex CVDs.
  • To highlight the potential of genetic insights for personalized cardiovascular risk prediction and prevention.

Main Methods:

  • Review of current literature on genetic contributions to cardiovascular diseases.
  • Explanation of polygenic risk scores as a tool for complex genetic traits.
  • Discussion of direct-to-consumer genetic testing accessibility.

Main Results:

  • Monogenic inheritance patterns are common in specific CVDs, identifiable through genetic testing.
  • Common CVDs like coronary artery disease and atrial fibrillation are influenced by numerous small-effect genetic variants.
  • Polygenic risk scores mathematically integrate these variants for comprehensive risk assessment.

Conclusions:

  • Understanding the genetic architecture of CVD is crucial for advancing personalized medicine.
  • Polygenic risk scores represent a significant development in predicting risk for common cardiovascular diseases.
  • Genomic insights hold promise for tailoring preventive therapies and improving clinical management of CVD.