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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...
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...
Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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...
Genomics02:02

Genomics

Genomics is the science of genomes: it is the study of all the genetic material of an organism. In humans, the genome consists of information carried in 23 pairs of chromosomes in the nucleus, as well as mitochondrial DNA. In genomics, both coding and non-coding DNA is sequenced and analyzed. Genomics allows a better understanding of all living things, their evolution, and their diversity. It has a myriad of uses: for example, to build phylogenetic trees, to improve productivity and...

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Related Experiment Video

Updated: Jun 22, 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

Published on: June 21, 2018

Finding common susceptibility variants for complex disease: past, present and future.

Kalliope Panoutsopoulou1, Eleftheria Zeggini

  • 1Wellcome Trust Sanger Institute, Wellcome Trust Genome Campus, Hinxton, Cambridge, UK.

Briefings in Functional Genomics & Proteomics
|July 3, 2009
PubMed
Summary

Advances in genotyping and large sample sets accelerate complex disease gene discovery. Genome-wide association studies are now standard, offering insights into human complex trait genetics.

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Area of Science:

  • Human genetics
  • Complex trait genetics
  • Genomics

Background:

  • High-throughput genotyping technologies have significantly advanced the identification of complex disease susceptibility loci.
  • Understanding common variant correlation patterns and large-scale sample availability are crucial for genetic studies.
  • Genome-wide association scans (GWAS) have largely replaced older methods like linkage scans and candidate gene studies.

Purpose of the Study:

  • To review insights gained from past genetic studies of complex diseases.
  • To highlight practical considerations in the design and analysis of current genome-wide association studies.
  • To explore future trends in the field of human complex trait genetics.

Main Methods:

  • Review of existing literature and methodologies in human complex trait genetics.
  • Analysis of current state-of-the-art genome-wide association study (GWA) designs and analytical approaches.
  • Synthesis of past findings and future projections in the field.

Main Results:

  • Significant acceleration in identifying complex disease susceptibility loci due to technological and data advancements.
  • Shift from candidate gene approaches to comprehensive genome-wide association scans.
  • Accumulated insights into the genetic architecture of complex human traits.

Conclusions:

  • Genome-wide association studies are powerful tools for understanding complex disease genetics.
  • Continued advancements in technology and analysis will further refine our understanding of human complex traits.
  • The field is moving towards more sophisticated analyses and integration of diverse genetic data.