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Related Concept Videos

Introduction to Test of Independence01:21

Introduction to Test of Independence

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In statistics, the term independence means that one can directly obtain the probability of any event involving both variables by multiplying their individual probabilities. Tests of independence are chi-square tests involving the use of a contingency table of observed (data) values.
The test statistic for a test of independence is similar to that of a goodness-of-fit test:
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Hypothesis Test for Test of Independence01:16

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The test of independence is a chi-square-based test used to determine whether two variables or factors are independent or dependent. This hypothesis test is used to examine the independence of the variables. One can construct two qualitative survey questions or experiments based on the variables in a contingency table. The goal is to see if the two variables are unrelated (independent) or related (dependent). The null and alternative hypotheses for this test are:
H0: The two variables (factors)...
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Epistasis Analysis01:09

Epistasis Analysis

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Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
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Multiple Regression01:25

Multiple Regression

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Multiple regression assesses a linear relationship between one response or dependent variable and two or more independent variables. It has many practical applications.
Farmers can use multiple regression to determine the crop yield based on more than one factor, such as water availability, fertilizer, soil properties, etc. Here, the crop yield is the response or dependent variable as it depends on the other independent variables. The analysis requires the construction of a scatter plot...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
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Causality or causation is a fundamental concept in epidemiology, vital for understanding the relationships between various factors and health outcomes. Despite its importance, there's no single, universally accepted definition of causality within the discipline. Drawing from a systematic review, causality in epidemiology encompasses several definitions, including production, necessary and sufficient, sufficient-component, counterfactual, and probabilistic models. Each has its strengths and...
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An Allele-specific Gene Expression Assay to Test the Functional Basis of Genetic Associations
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Causal Gene Identification Using Non-Linear Regression-Based Independence Tests.

Hao Zhang, Chuanxu Yan, Yewei Xia

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    This study introduces a novel method for identifying causal genes linked to diseases using gene expression data. The approach effectively discovers numerous disease-related genes, improving upon existing causal inference techniques.

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    Area of Science:

    • Genomics
    • Bioinformatics
    • Computational Biology

    Background:

    • Causal gene identification is crucial for understanding genetic diseases and informing patient treatment.
    • Current machine learning methods often identify too few causal genes or only a broader set of related genes.

    Purpose of the Study:

    • To develop an effective approach for identifying multiple causal genes from gene expression data.
    • To improve upon existing causal inference methods for disease-related gene discovery.

    Main Methods:

    • Utilized a novel search strategy based on non-linear regression-based independence tests.
    • Reduced the search space for candidate genes and established causal relationships.
    • Applied the method to real-world cancer datasets.

    Main Results:

    • Identified dozens of causal genes, with 33-50% validated by existing research.
    • Discovered causal genes effectively distinguished patient status or disease subtypes.
    • Demonstrated that most identified genes are closely relevant to the disease variable.

    Conclusions:

    • The proposed method significantly enhances causal gene identification from gene expression data.
    • This approach offers a more comprehensive understanding of the genetic basis of diseases like cancer.
    • The identified genes have potential applications in diagnostics and personalized medicine.