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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...
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...
Human Genetics01:28

Human Genetics

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.
The complex relationship between genetics and psychology is observable through common biological components such...
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...
Genetic Lingo01:11

Genetic Lingo

Overview
Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu01:29

Pharmacogenetic Phenotypes: Alterations in Pharmacokinetics, Drug Targets and Biologic Milieu

Genetic variations significantly influence drug response through pharmacokinetics, receptor interactions, and biologic milieu modifications. Pharmacokinetic alterations impact drug metabolism and clearance, affecting efficacy and toxicity. Variants in drug-metabolizing enzymes, such as CYP2C9 and CYP2C19, alter drug activation and elimination. For example, CYP2C9 loss-of-function variants require lower warfarin doses to prevent excessive bleeding, while CYP2C19 variants reduce clopidogrel...

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Related Experiment Video

Updated: Jun 17, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

HapMap and mapping genes for cardiovascular disease.

Kiran Musunuru1, Sekar Kathiresan

  • 1Cardiovascular Research Center and Cardiology Division, and Center for Human Genetic Research, Massachusetts General Hospital, Boston and Program in Medical and Population Genetics, Broad Institute of Harvard and Massachusetts Institute of Technology, Cambridge, Mass.

Circulation. Cardiovascular Genetics
|December 25, 2009
PubMed
Summary
This summary is machine-generated.

Understanding genetic variations like single nucleotide polymorphisms (SNPs) is crucial for disease susceptibility research. The HapMap project aids in identifying these common SNPs and their role in complex diseases.

Related Experiment Videos

Last Updated: Jun 17, 2026

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
04:41

Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

Published on: January 9, 2020

Area of Science:

  • Genomics
  • Human Genetics
  • Cardiovascular Disease Research

Background:

  • Individual differences in disease susceptibility are a key biomedical science goal.
  • Family history is a known risk factor for cardiovascular disease, partly due to inherited DNA variations.
  • Single nucleotide polymorphisms (SNPs) are common DNA sequence variants influencing disease susceptibility.

Purpose of the Study:

  • To review the concept of linkage disequilibrium and allelic association.
  • To discuss the International Haplotype Map (HapMap) Project.
  • To present examples of HapMap data utility in genetic mapping for cardiovascular disease.

Main Methods:

  • Reviewing the concept of linkage disequilibrium (allelic association).
  • Describing the International Haplotype Map (HapMap) Project's goals and database.
  • Analyzing case studies demonstrating HapMap data application in cardiovascular genetics.

Main Results:

  • The HapMap project provides a genome-wide database of common single nucleotide polymorphisms (SNPs).
  • This database facilitates systematic studies of SNPs and their potential roles in human diseases.
  • HapMap data has proven useful in genetic mapping for cardiovascular disease phenotypes.

Conclusions:

  • Understanding common SNPs and haplotypes is essential for dissecting genetic contributions to disease.
  • The HapMap project is a valuable resource for genetic association studies, particularly in complex diseases like cardiovascular disease.
  • Continued research utilizing HapMap data will advance our knowledge of disease susceptibility and genetic risk.