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相关概念视频

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

1.9K
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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相关实验视频

Updated: Apr 1, 2026

Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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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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人类基因变异的全球参考

, Adam Auton, Lisa D Brooks

    Nature
    |October 4, 2015
    PubMed
    概括
    此摘要是机器生成的。

    1000个基因组项目绘制了来自26个群体的2,504个个体的超过8800万个人类遗传变异. 这种全面的人类遗传变异资源有助于未来的常见疾病研究.

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    相关实验视频

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    Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
    07:15

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

    Published on: January 16, 2019

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    科学领域:

    • 基因组学
    • 人类遗传学
    • 生物信息学

    背景情况:

    • 了解人类遗传变异对于生物医学研究至关重要.
    • 之前的努力提供了有限的常见变体范围.
    • 1000个基因组项目旨在创建一个全面的目录.

    研究的目的:

    • 为了全面描述人类的遗传变异.
    • 重建和分析来自不同全球人口的基因组.
    • 提供高质量的,分阶段的类型资源.

    主要方法:

    • 全基因组测序 (覆盖范围较低).
    • 外体测序 (深度覆盖)
    • 密集的微阵列基因型.
    • 生物信息分析和变种调用.
    • 哈普洛型的分期.

    主要成果:

    • 来自26个群体的2,504个个体的基因组重建.
    • 超过8800万个基因变异 (SNP,indels,结构变异) 的表征.
    • 识别了99%以上的SNP变异,在祖先之间频率高于1%.
    • 将变种分阶段转化为高质量的单元型.

    结论:

    • 1000个基因组项目成功创建了一个人类遗传变异的综合资源.
    • 这些数据为全球人口的变种分布提供了前所未有的洞察力.
    • 这种资源对了解常见疾病的遗传基础具有重要意义.