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Related Concept Videos

Sample Size Calculation01:19

Sample Size Calculation

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Knowledge of the sample size is the first requirement to conduct random sampling or an experiment. The sample size is the total number of units, observations, or groups (in some cases) used to get the data to estimate a population parameter. As the name suggests, the sample size is that of the sample drawn from the population and differs from the population size.
The sample size for the given experiment or sampling effort is fundamental to any study design. Sample size decides the number of...
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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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Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Sample Proportion and Population Proportion01:20

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Collecting samples or responses from an entire population takes significant time and effort, so a researcher collects responses from only a sample of that population. Suppose a study needs to collect information about a specific mobile application. After sample collection, the researcher analyzes the data and discovers that most individuals in the sample use that specific mobile application. The sample proportion measures the number of individuals in a sample who either use or don't use the...
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One-Way ANOVA: Unequal Sample Sizes01:15

One-Way ANOVA: Unequal Sample Sizes

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One-way ANOVA can be performed on three or more samples of unequal sizes. However, calculations get complicated when sample sizes are not always the same. So, while performing ANOVA with unequal samples size, the following equation is used:
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What is Population Genetics?01:25

What is Population Genetics?

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A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
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Updated: Aug 13, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Sample Size Calculation in Genetic Association Studies: A Practical Approach.

Cristina Politi1, Stefanos Roumeliotis2, Giovanni Tripepi1

  • 1Clinical Epidemiology and Renal Diseases and Hypertension Unit, Institute of Clinical Physiology (IFC), National Research Council (CNR), 89124 Reggio Calabria, Italy.

Life (Basel, Switzerland)
|January 21, 2023
PubMed
Summary
This summary is machine-generated.

Calculating adequate sample size is crucial for reliable genetic association studies. This study outlines key statistical and genetic parameters for accurate sample size estimation in gene-disease association research.

Keywords:
SNPcomplex diseasesdiabetic nephropathygenetic association studygenetic softwaresample size

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Area of Science:

  • Genetics
  • Biostatistics
  • Epidemiology

Background:

  • Genetic association studies identify genetic variants linked to complex disorders.
  • Inadequate sample size compromises the reliability and accuracy of these studies.
  • Sample size calculation is often inadequately performed in genetic association studies.

Purpose of the Study:

  • To identify and discuss essential statistical and genetic parameters for sample size calculation.
  • To demonstrate the impact of incorrect sample size estimation.
  • To provide a practical approach for determining adequate sample size in gene-disease association studies.

Main Methods:

  • Literature review and discussion of statistical and genetic parameters.
  • Illustrative examples of incorrect sample size estimations.
  • Application of a genetic software program for sample size assessment in a hypothetical gene-disease association study.

Main Results:

  • Identification of key parameters influencing sample size calculations in genetic association studies.
  • Demonstration of how incorrect estimations can lead to unreliable findings.
  • A practical, software-based method for determining appropriate sample size was presented.

Conclusions:

  • Accurate sample size calculation is vital for the validity of genetic association studies.
  • Consideration of specific statistical and genetic parameters is necessary for robust study design.
  • The presented approach facilitates reliable sample size determination for gene-disease association research.