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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...
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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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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...
Introduction to Epidemiology01:26

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Epidemiology, known as the cornerstone of public health, involves studying the distribution and determinants of health-related events in defined populations and applying these insights to control health issues. This is essential for understanding how diseases spread, identifying populations at greater risk, and implementing measures to control or prevent outbreaks. Epidemiology addresses not only infectious diseases but also non-communicable conditions like cancer and cardiovascular disease,...
Confounding in Epidemiological Studies01:27

Confounding in Epidemiological Studies

Confounding in statistical epidemiology represents a pivotal challenge, referring to the distortion in the perceived relationship between an exposure and an outcome due to the presence of a third variable, known as a confounder. This variable is associated with both the exposure and the outcome but is not a direct link in their causal chain. Its presence can lead to erroneous interpretations of the exposure's effect, either exaggerating or underestimating the true association. This phenomenon...
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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

Epidemiologic considerations in complex disease genetics.

John Gallacher

    Cold Spring Harbor Protocols
    |December 24, 2011
    PubMed
    Summary
    This summary is machine-generated.

    Large-scale association studies are popular for complex disease research. This article discusses practical considerations for conducting these genetic studies using epidemiologic samples.

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    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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    Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
    05:53

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    Published on: June 21, 2018

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
    09:37

    Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

    Published on: August 15, 2019

    Area of Science:

    • Genetics
    • Epidemiology
    • Bioinformatics

    Background:

    • Association studies are increasingly utilized for genetic research.
    • These studies are valuable for identifying genes linked to complex diseases.
    • Genome-wide association studies (GWAS) are a key tool in this field.

    Purpose of the Study:

    • To outline practical challenges in large-scale genetic association studies.
    • To provide guidance on conducting these studies with epidemiologic samples.
    • To enhance the efficiency and reliability of genetic association research.

    Main Methods:

    • Review of established methodologies in genetic association studies.
    • Discussion of sample selection and data collection strategies for epidemiologic cohorts.
    • Consideration of statistical approaches for analyzing large genetic datasets.

    Main Results:

    • Identification of key practical concerns in association study design and execution.
    • Highlighting the importance of sample quality and study design in epidemiologic settings.
    • Providing actionable insights for researchers in the field.

    Conclusions:

    • Successful large-scale association studies require careful planning and execution.
    • Addressing practical concerns is crucial for robust genetic findings.
    • This article serves as a guide for optimizing association studies in epidemiology.