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Next-generation Sequencing03:00

Next-generation Sequencing

The first human genome sequencing project cost $2.7 billion and was declared complete in 2003, after 15 years of international cooperation and collaboration between several research teams and funding agencies. Today, with the advent of next-generation sequencing technologies, the cost and time of sequencing a human genome have dropped over 100 fold.
Next-Generation Sequencing Methods
Although all next-generation methods use different technologies, they all share a set of standard features.
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Cardiomyopathy I: Introduction and Classification01:25

Cardiomyopathy I: Introduction and Classification

Cardiomyopathy, or CMP, is a group of diseases affecting the myocardial structure, impairing its ability to pump blood effectively. This condition can lead to arrhythmias, heart failure, or sudden cardiac death.Cardiomyopathies are classified into primary and secondary categories:Primary Cardiomyopathy refers to conditions involving only the heart muscle that are often idiopathic (of unknown cause) or genetic. They primarily affect the myocardium without the involvement of other systemic...
Cardiomyopathy II: Dilated Cardiomyopathy01:30

Cardiomyopathy II: Dilated Cardiomyopathy

Dilated cardiomyopathy, or DCM, is a progressive myocardial disorder characterized by ventricular chamber dilation and contractile dysfunction.EtiologyVarious factors can cause DCM, including hypertension and heavy alcohol intake, which contribute to the weakening and enlargement of the heart muscle. Viral infections, such as Coxsackievirus B, adenoviruses, and influenza, can lead to DCM by causing inflammation and damage to heart tissue. Certain chemotherapeutic agents, including daunorubicin,...
Coronary Artery Disease I: Introduction01:30

Coronary Artery Disease I: Introduction

Coronary Artery Disease (CAD): An Overview with Scientific InsightsCoronary Artery Disease (CAD), often referred to as C-A-D, is a prevalent blood vessel disorder classified under the broader category of atherosclerosis. Atherosclerosis is a pathological process characterized by the hardening and narrowing of arteries due to the accumulation of atherosclerotic plaques. These plaques are composed of cholesterol, fatty substances, inflammatory cells, calcium, and fibrin, reducing blood flow to...
Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...

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Related Experiment Video

Updated: May 17, 2026

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
09:34

Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease

Published on: April 4, 2018

Next generation sequencing in cardiovascular diseases.

Francesca Faita1, Cecilia Vecoli, Ilenia Foffa

  • 1Francesca Faita, Cecilia Vecoli, Ilenia Foffa, Maria Grazia Andreassi, CNR, Institute of Clinical Physiology, 54100 Massa, Italy.

World Journal of Cardiology
|October 31, 2012
PubMed
Summary

Next-generation sequencing (NGS) is transforming genetic studies, enabling whole-genome sequencing for cardiovascular diseases (CVDs). This technology aids in identifying genetic variants for improved diagnosis, prevention, and treatment of inherited and complex CVDs.

Keywords:
CardiomyopathiesComplex diseaseCoronary artery diseaseGenetics of cardiovascular diseasesNext generation sequencing

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Area of Science:

  • Genomics
  • Cardiovascular Genetics
  • Next-Generation Sequencing

Background:

  • Next-generation sequencing (NGS) has revolutionized genetic studies, enabling comprehensive genomic information acquisition.
  • NGS is increasingly recognized for its potential in identifying causative mutations for Mendelian disorders.

Purpose of the Study:

  • To discuss the recent applications of NGS in the genetic study of cardiovascular diseases (CVDs).
  • To explore the future utility and challenges of NGS in understanding the genetic basis of CVDs.

Main Methods:

  • Review of recent literature on NGS applications in cardiovascular genetics.
  • Discussion of NGS's role in identifying rare and frequent genetic variants.

Main Results:

  • NGS has shown success in identifying novel mutations for Mendelian disorders.
  • NGS is poised to become increasingly important in the study of inherited and complex CVDs.
  • Identification of genetic variants is crucial for clinical practice, aiding in pathogenic mutation detection and risk profiling.

Conclusions:

  • NGS offers significant potential for advancing the diagnosis, prevention, and treatment of CVDs.
  • Further investigation into NGS approaches for CVD genetics is warranted.
  • Addressing the challenges associated with NGS will be key to unlocking its full utility in cardiovascular genetics.