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Related Concept Videos

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...
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...
Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Polygenic Traits01:18

Polygenic Traits

When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
Genetic Lingo01:11

Genetic Lingo

Overview

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Related Experiment Video

Updated: Jun 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

[Genetics of multifactorial diseases].

Juha Kere1, Samuli Ripatti, Markus Perola

  • 1Karolinska Institutet ja Haartman-instituutti, Helsingin yliopisto ja Folkhälsans Genetiska Institut, Helsingfors Institutionen för biovetenskaper och näringslära, 14183 Huddinge, Ruotsi.

Duodecim; Laaketieteellinen Aikakauskirja
|November 20, 2010
PubMed
Summary

Multifactorial diseases arise from complex interactions between genes and environment. Advances in genetic variation measurement and DNA sequencing are rapidly improving our understanding of these disease mechanisms.

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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

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Last Updated: Jun 6, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)
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Generation of High Quality Chromatin Immunoprecipitation DNA Template for High-throughput Sequencing (ChIP-seq)

Published on: April 19, 2013

Area of Science:

  • Genetics and Environmental Health
  • Complex Disease Etiology

Context:

  • Multifactorial diseases result from a combination of genetic predisposition and environmental factors.
  • Examples include cardiovascular diseases, asthma, autoimmune disorders, and neurological/psychiatric conditions.
  • Understanding the interplay between genome and environment is crucial for disease management.

Purpose:

  • To highlight the complexity of multifactorial diseases.
  • To emphasize the role of genetic and environmental influences.
  • To underscore the need for further research into gene-environment interactions.

Summary:

  • Technical advancements enable more precise measurement of genetic variation, identifying numerous predisposing genes.
  • Current research faces challenges in fully elucidating the functional mechanisms of these identified genes.
  • Rapid progress in DNA sequencing technologies is accelerating research in this field.

Impact:

  • Improved understanding of multifactorial disease pathogenesis.
  • Potential for novel therapeutic targets and personalized medicine approaches.
  • Enhanced strategies for disease prevention and management through genetic and environmental insights.