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Related Concept Videos

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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Comparing Copy Number Variations and SNPs02:26

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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 Drift03:33

Genetic Drift

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Natural selection—probably the most well-known evolutionary mechanism—increases the prevalence of traits that enhance survival and reproduction. However, evolution does not merely propagate favorable traits, nor does it always benefit populations.
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Gene Flow02:39

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Gene flow is the transfer of genes among populations, resulting from either the dispersal of gametes or from the migration of individuals.
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Genetic Variation01:25

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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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Gene Duplication and Divergence02:37

Gene Duplication and Divergence

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The seminal work of Ohno in 1970 popularized the idea of gene duplication and divergence. DNA sequence comparison studies reveal that a large portion of the genes in bacteria, archaebacteria, and eukaryotes was  generated by gene duplication and divergence, indicating its critical role in evolution.
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Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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[Rare variants and demographic explosion].

Bertrand Jordan1

  • 1UMR 7268 ADÉS, Aix-Marseille Université/EFS/CNRS, Espace éthique méditerranéen, Hôpital adultes La Timone, 264, rue Saint-Pierre, 13385 Marseille Cedex 05, France - CoReBio PACA, case 901, parc scientifique de Luminy, 13288 Marseille Cedex 09, France.

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Summary
This summary is machine-generated.

Human DNA harbors many rare variants due to recent population expansion. Studying neutral variants in Europeans suggests this expansion was faster and more recent than previously thought.

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Area of Science:

  • Human Genetics
  • Population Genetics
  • Genomics

Context:

  • The human genome contains numerous rare variants.
  • Recent human population expansion is a significant factor influencing genetic diversity.

Purpose:

  • To investigate the relationship between human population expansion and the abundance of rare genetic variants.
  • To refine estimates of the timing and rate of recent human population growth.

Summary:

  • Analysis of neutral variants in a European population indicates a more recent and accelerated population expansion than previously estimated.
  • The high frequency of rare variants supports a model of rapid demographic increase.

Impact:

  • Provides crucial data for understanding human demographic history.
  • Implications for interpreting genetic variation in health and disease studies.
  • Refines models of human evolution and population dynamics.