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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...
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...
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...
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...

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Related Experiment Video

Updated: Jun 22, 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

[Progress in genetic association study for multifactorial diseases].

Ken Yamamoto1

  • 1Department of Molecular Genetics, Medical Institute of Bioregulation, Kyushu University.

Nihon Rinsho. Japanese Journal of Clinical Medicine
|June 11, 2009
PubMed
Summary
This summary is machine-generated.

Genome-wide association studies (GWAS) have identified over 300 disease-linked genetic variants. Further research, including DNA resequencing, is needed to pinpoint causal variants for better disease treatment and prevention.

More Related Videos

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Related Experiment Videos

Last Updated: Jun 22, 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

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

  • Genetics
  • Genomics
  • Disease Etiology

Context:

  • Genome-wide association studies (GWAS) have identified over 300 replicated genetic associations for more than 70 common diseases and biological measurements.
  • While GWAS has advanced understanding, causal variants remain unclear in many instances.
  • The influence of rare variants on common diseases necessitates further investigation beyond typical GWAS approaches.

Purpose:

  • To explore the utility of genetic association data in understanding disease etiology.
  • To highlight the limitations of common variant detection in GWAS.
  • To emphasize the need for advanced genetic analysis, such as DNA resequencing, for identifying rare causal variants.

Summary:

  • GWAS have successfully uncovered numerous common variants linked to common diseases, significantly contributing to our understanding of disease mechanisms.
  • Despite successes, identifying the precise causal variants remains a challenge.
  • The study underscores the importance of investigating rare variants through methods like DNA resequencing to complement GWAS findings and fully elucidate disease genetics.

Impact:

  • Genetic association data from GWAS provide crucial insights into disease etiology, paving the way for improved diagnostics and targeted therapies.
  • Identifying causal variants is essential for developing effective disease prevention and treatment strategies.
  • The findings advocate for integrated approaches, combining GWAS with rare variant analysis, to achieve a comprehensive understanding of genetic contributions to common diseases.