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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...
98
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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ヒトの遺伝的多様性に関するグローバル・リファレンス

, Adam Auton, Lisa D Brooks

    Nature
    |October 4, 2015
    PubMed
    まとめ
    この要約は機械生成です。

    1000ゲノムプロジェクトでは 26の集団から2,504人のヒトの遺伝子変異をマッピングしました この包括的なヒト遺伝的多様性資源は,将来の一般的な疾患の研究に役立ちます.

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    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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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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    Detection of Rare Genomic Variants from Pooled Sequencing Using SPLINTER
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    科学分野:

    • ゲノミクス
    • 人間 の 遺伝子
    • バイオ情報学

    背景:

    • ヒトの遺伝的多様性を理解することは 生物医学研究にとって極めて重要です
    • 以前の取り組みは,一般的な変異の範囲を限定しました.
    • "1000ゲノムプロジェクト"の目的は 総合的なカタログを作成することでした

    研究 の 目的:

    • ヒトの遺伝的変異を包括的に記述する.
    • ゲノムを再構築し 分析する
    • 高品質で段階的なハプロタイプ資源を提供するためです.

    主な方法:

    • 全ゲノムシーケンシング (低カバー)
    • エクソームシーケンシング (深層カバー)
    • 密度の高いマイクロアレイのゲノタイプ化
    • バイオ情報分析と 変種呼び出し
    • ハプロタイプ分相化

    主要な成果:

    • 26の集団から2,504人のゲノムを再構築した.
    • 8800万種以上の遺伝子変異 (SNP,インデル,構造変異) の特徴づけ
    • >99%のSNP変種を祖先の間で >1%の頻度で特定した.
    • 高品質のハプロタイプへの変異の段階化

    結論:

    • "1000ゲノムプロジェクト"は ヒトの遺伝的多様性に関する 総合的なリソースを成功裏に作成しました
    • このデータは,世界の人口の多様性分布に関する前例のない洞察を提供します.
    • このリソースは,一般的な病気の遺伝的基礎を理解するために重要な意味を持っています.