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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

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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.
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%...
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Genetic Variation01:25

Genetic Variation

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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,...
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What is Variation?01:14

What is Variation?

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Apart from the measures of central tendency, distribution, outliers, and the changing characteristics of data with time, an important characteristic of any data set is its variation or spread. In some data sets, the data values are concentrated closely near the mean; in others, the data values are more widely spread out from the mean.
The range, standard deviation, standard error, and variance are the different measures of variation.
Range: The range is the difference between its maximum and...
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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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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Variance01:15

Variance

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 The deviations show how spread out the data are about the mean. A positive deviation occurs when the data value exceeds the mean, whereas a negative deviation occurs when the data value is less than the mean. If the deviations are added, the sum is always zero. So one cannot simply add the deviations to get the data spread. By squaring the deviations, the numbers are made positive; thus, their sum will also be positive.
The standard deviation measures the spread in the same units as the...
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Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

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In a population that is not at Hardy-Weinberg equilibrium, the frequency of alleles changes over time. Therefore, any deviations from the five conditions of Hardy-Weinberg equilibrium can alter the genetic variation of a given population. Conditions that change the genetic variability of a population include mutations, natural selection, non-random mating, gene flow, and genetic drift (small population size).
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Related Experiment Video

Updated: Oct 29, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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The variants question: What is the problem?

Davide Zella1, Marta Giovanetti2,3, Francesca Benedetti1

  • 1Department of Biochemistry and Molecular Biology, Institute of Human Virology and Global Virus Network Center, University of Maryland School of Medicine, Baltimore, Maryland, USA.

Journal of Medical Virology
|July 13, 2021
PubMed
Summary
This summary is machine-generated.

The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) has rapidly evolved, leading to new variants of concern (VOCs) and interest (VOIs). Understanding their mutations is vital for public health and vaccination strategies.

Keywords:
SARS-CoV-2VOCsVOIsintervention strategiespandemicvaccine

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Area of Science:

  • Virology
  • Genomics
  • Epidemiology

Background:

  • Severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) emerged in late 2019 and has since spread globally.
  • Advances in whole-genome sequencing have enabled the identification of numerous SARS-CoV-2 genetic variants.
  • Specific variants, termed "variants of concern" (VOCs) and "variants of interest" (VOIs), exhibit increased mutations on the Spike protein, raising global concern.

Purpose of the Study:

  • To characterize the mutational patterns of major SARS-CoV-2 VOCs and VOIs.
  • To assess the genetic diversity of SARS-CoV-2.
  • To understand the potential impact of viral mutations on public health and vaccination strategies.

Main Methods:

  • Review of scientific literature on SARS-CoV-2 variants.
  • Analysis of genomic data and mutational patterns.
  • Characterization of Spike protein mutations in VOCs and VOIs.

Main Results:

  • Identification and characterization of hundreds of circulating SARS-CoV-2 genetic variants.
  • Focus on VOCs and VOIs with significant Spike protein mutations.
  • Insights into the evolution and epidemiology of SARS-CoV-2.

Conclusions:

  • Tracking emerging SARS-CoV-2 variants is critical for pandemic control.
  • Understanding viral genetic diversity and mutational patterns informs public health responses.
  • Mutations in VOCs and VOIs may affect viral transmission, immune evasion, and virulence, impacting vaccination efficacy.