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Related Concept Videos

Genetic Variation01:25

Genetic Variation

1.6K
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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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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Principles of Pharmacogenetics: Types of Genetic Variants01:27

Principles of Pharmacogenetics: Types of Genetic Variants

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The human genome is over 99.9% identical between individuals, yet genetic differences exist at millions of bases. The human genome contains approximately 3 million variant positions per individual, many of which are heterozygous, contributing to genetic diversity and individual traits. Genetic variations include single-nucleotide polymorphisms (SNPs), insertions, deletions, and copy number variations (CNVs).SNPs, the most common variation, involve single-base changes in DNA. These can be...
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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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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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Human Genetics01:28

Human Genetics

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Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
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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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A global reference for human genetic variation.

, Adam Auton, Lisa D Brooks

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    Summary
    This summary is machine-generated.

    The 1000 Genomes Project mapped over 88 million human genetic variants across 2,504 individuals from 26 populations. This comprehensive human genetic variation resource aids future common disease studies.

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    Area of Science:

    • Genomics
    • Human Genetics
    • Bioinformatics

    Background:

    • Understanding human genetic variation is crucial for biomedical research.
    • Previous efforts provided limited scope of common variants.
    • The 1000 Genomes Project aimed to create a comprehensive catalog.

    Purpose of the Study:

    • To comprehensively describe common human genetic variation.
    • To reconstruct and analyze genomes from diverse global populations.
    • To provide a high-quality, phased haplotype resource.

    Main Methods:

    • Whole-genome sequencing (low-coverage).
    • Exome sequencing (deep coverage).
    • Dense microarray genotyping.
    • Bioinformatic analysis and variant calling.
    • Haplotype phasing.

    Main Results:

    • Reconstruction of 2,504 individuals' genomes from 26 populations.
    • Characterization of over 88 million genetic variants (SNPs, indels, structural variants).
    • Identification of >99% of SNP variants with a frequency >1% across ancestries.
    • Phasing of variants onto high-quality haplotypes.

    Conclusions:

    • The 1000 Genomes Project successfully created a comprehensive resource of human genetic variation.
    • The data provides unprecedented insight into variant distribution across global populations.
    • This resource has significant implications for understanding the genetic basis of common diseases.