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Related Concept Videos

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...
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...
Genetic Lingo01:11

Genetic Lingo

Overview
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,...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Genetic Variation01:25

Genetic Variation

Genetic variation is the diversity in DNA sequences found among individuals of the same species. This diversity is crucial for a species' survival because it helps organisms adapt to environmental changes. Genetic variation begins with fertilization, where an egg and sperm cell merge. Each of these cells carries 23 chromosomes, up to 46 in the fertilized egg. Chromosomes are long DNA strands that contain genes, the basic units of heredity.
Genes exist in different versions called alleles, which...

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Updated: May 24, 2026

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
06:41

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila

Published on: August 20, 2019

Do rare variant genotypes predict common variant genotypes?

Jack W Kent1, Vidya Farook, Harald Hh Göring

  • 1Department of Genetics, Texas Biomedical Research Institute, PO Box 760549, San Antonio, TX 78245-0249, USA. jkent@txbiomedgenetics.org.

BMC Proceedings
|March 1, 2012
PubMed
Summary
This summary is machine-generated.

Synthetic association in genetics suggests common variants may mask multiple rare variants. This study found rare variant genotypes can predict common variant genotypes in 21-44% of cases, supporting the synthetic association hypothesis.

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Targeted Next-generation Sequencing and Bioinformatics Pipeline to Evaluate Genetic Determinants of Constitutional Disease
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Last Updated: May 24, 2026

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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

Area of Science:

  • Genetics
  • Statistical Genetics
  • Human Genetics

Background:

  • The synthetic association hypothesis posits that common genetic variants in genome-wide association studies (GWAS) may represent the combined effect of multiple rare polymorphisms within a gene.
  • This contrasts with the traditional view that common variants are functional or in linkage disequilibrium with functional variants.

Purpose of the Study:

  • To investigate the converse of the synthetic association hypothesis: the correlation between rare and common variant genotypes within the same gene.
  • To determine the frequency, strength, and conditions under which rare variant genotypes predict common variant genotypes using exome data.

Main Methods:

  • Utilized exome genotype data from the Genetic Analysis Workshop 17 (GAW17).
  • Analyzed correlations between rare and common variant genotypes within genes for both unrelated and related individuals.
  • Assessed the predictive power of rare variant genotypes for common variant genotypes.

Main Results:

  • Nominal evidence of correlation between rare and common variants was observed in 21-30% of examined cases for unrelated individuals.
  • This correlation rate increased to 38-44% for related individuals.
  • Findings underscore the role of genetic segregation in enabling synthetic association.

Conclusions:

  • Rare variant genotypes can predict common variant genotypes, providing empirical support for the synthetic association hypothesis.
  • The frequency of this predictive relationship is significant, particularly in related individuals, highlighting the importance of considering rare variants in genetic studies.
  • These results have implications for the interpretation of GWAS findings and the understanding of genetic architecture in complex diseases.