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Related Concept Videos

Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

17.7K
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

288
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,...
288
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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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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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

13.4K
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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Types of Genetic Transfer Between Organisms02:18

Types of Genetic Transfer Between Organisms

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Genetic transfer occurs when genetic information is passed from one organism to another. It occurs via two mechanisms: vertical gene transfer and horizontal gene transfer. Vertical gene transfer occurs when genetic information is transferred from one generation to the next, which happens much more frequently than horizontal gene transfer. Both sexual and asexual reproduction are forms of vertical gene transfer, where one or more organisms pass some or all of their genome onto their progeny.
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Related Experiment Video

Updated: Jul 7, 2025

Constructing Mutants in Serotype 1 Streptococcus pneumoniae strain 519/43
06:06

Constructing Mutants in Serotype 1 Streptococcus pneumoniae strain 519/43

Published on: September 11, 2020

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Disease-Associated Streptococcus pneumoniae Genetic Variation.

Shimin Yang, Jianyu Chen, Jinjian Fu

    Emerging Infectious Diseases
    |December 26, 2023
    PubMed
    Summary

    Genomic surveillance identified key genetic differences in Streptococcus pneumoniae, distinguishing infection-causing strains from those causing asymptomatic carriage in children. These findings aid in predicting and targeting pathogenic pneumococci for interventions.

    Keywords:
    ChinaStreptococcus pneumoniaebacteriabacterial genomesgenome-wide association studypathogenicity

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    Following in Real Time the Impact of Pneumococcal Virulence Factors in an Acute Mouse Pneumonia Model Using Bioluminescent Bacteria
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    Last Updated: Jul 7, 2025

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    Area of Science:

    • Microbiology
    • Genomics
    • Epidemiology

    Background:

    • Streptococcus pneumoniae is a major global cause of childhood illness and death.
    • Significant genetic differences exist between pneumococcal strains causing infection and those causing asymptomatic carriage.

    Purpose of the Study:

    • To investigate the evolutionary mechanisms driving opportunistic pathogenicity in S. pneumoniae.
    • To identify genomic variations associated with pneumococcal pathogenicity.

    Main Methods:

    • Genomic surveillance of 783 S. pneumoniae isolates from infected and asymptomatic children in China.
    • A two-stage genomewide association study (GWAS) comparing infection and carriage isolates.

    Main Results:

    • Identified 8 consensus k-mers linked to adherence, antimicrobial resistance, and immune modulation.
    • These k-mers were unevenly distributed, predominantly in infection isolates.
    • A k-mer predictor demonstrated good accuracy in identifying pathogenic S. pneumoniae isolates.

    Conclusions:

    • Pneumococcal pathogenicity is complex and multifactorial.
    • Genomic variations provide targets for precise interventions against S. pneumoniae infection.