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Related Concept Videos

Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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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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Genome-wide Association Studies-GWAS01:11

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

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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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Pharmacogenomics: Identification of New Drug Targets01:29

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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...
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Comparing Copy Number Variations and SNPs02:26

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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.
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Single Nucleotide Polymorphisms-SNPs01:05

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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,...
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In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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How important are rare variants in common disease?

Aude Saint Pierre, Emmanuelle Génin

    Briefings in Functional Genomics
    |July 10, 2014
    PubMed
    Summary

    Rare genetic variants may significantly impact complex disease susceptibility more than common variants. Advanced sequencing technologies enable their study, though more research and new designs are needed to understand their full role.

    Keywords:
    common diseasecommon variantsmutation-selection balancenext-generation sequencingpopulation geneticsrare variants

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    Area of Science:

    • Genetics
    • Genomics
    • Complex Disease Research

    Background:

    • Genome-wide association studies (GWAS) identify common genetic variants for complex diseases, but their contribution is often small.
    • Rare genetic variants, previously undetectable by GWAS, are now recognized as potentially more influential in disease susceptibility.

    Purpose of the Study:

    • To review the contribution of rare genetic variants to common diseases.
    • To summarize findings from resequencing studies and simulations on complex trait genetics.

    Main Methods:

    • Review of existing resequencing studies for various diseases.
    • Summary of simulation study results investigating complex trait genetic architecture.
    • Discussion of next-generation sequencing and exome array technologies.

    Main Results:

    • Current empirical data cannot exclude models where a few rare variants with substantial effects contribute to complex diseases.
    • Common variants identified by GWAS explain only a minor fraction of disease susceptibility.

    Conclusions:

    • Rare variants may play a crucial role in the genetic architecture of complex diseases.
    • Case-control data alone are insufficient; novel study designs and methodologies are required to fully elucidate the genetic basis of complex traits.