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相关概念视频

Genetic Variation01:25

Genetic Variation

281
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,...
281
Epistasis Analysis01:09

Epistasis Analysis

5.0K
Although Mendel chose seven unrelated traits in peas to study gene segregation, most traits involve multiple gene interactions that create a spectrum of phenotypes. When the interaction of various genes or alleles at different locations influences a phenotype, this is called epistasis. Epistasis often involves one gene masking or interfering with the expression of another (antagonistic epistasis). Epistasis often occurs when different genes are part of the same biochemical pathway. The...
5.0K
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

58.4K
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).
58.4K
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%...
17.7K
Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

6.5K
Although the genetic makeup of an organism plays a major role in determining the phenotype, there are also several environmental factors, such as temperature, oxygen availability, presence of mutagens, that can alter an organism’s phenotype.
An example of how genetic background affects phenotype can be seen in horses. The Extension gene in horses is responsible for their coat color. A wild-type gene (EE) produces black pigment in the coat, while a mutant gene (ee) produces red pigment. A...
6.5K
Incomplete Dominance01:43

Incomplete Dominance

22.5K
Gregor Mendel's work (1822 - 1884) was primarily focused on pea plants. Through his initial experiments, he determined that every gene in a diploid cell has two variants called alleles inherited from each parent. He suggested that amongst these two alleles, one allele is dominant in character and the other recessive. The combination of alleles determines the phenotype of a gene in an organism.
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相关实验视频

Updated: Jun 28, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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联合基因型和表型结果建模改善了基准编辑变异效应量化变异效应量化.

Jayoung Ryu1,2,3, Sam Barkal4, Tian Yu4

  • 1Molecular Pathology Unit, Krantz Family Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.

Nature genetics
|April 24, 2024
PubMed
概括
此摘要是机器生成的。

克里斯普尔基编辑屏幕现在提供了改进的变异效应估计. 一个新的计算工具,BEAN,增强了基因编辑屏幕的分析,以更好地了解与疾病相关的变异及其影响.

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Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms
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Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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相关实验视频

Last Updated: Jun 28, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
12:31

In Vivo Modeling of the Morbid Human Genome using Danio rerio

Published on: August 24, 2013

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Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms
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Enhanced Genome Editing with Cas9 Ribonucleoprotein in Diverse Cells and Organisms

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
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科学领域:

  • 遗传学和基因组学 遗传学和基因组学
  • 分子生物学分子生物学
  • 生物信息学是一种生物信息学.

背景情况:

  • 克里斯普尔基编辑屏幕对于分析疾病变体非常强大.
  • 目前的方法与可变的效率和精度扎,混现象型评估.
  • 准确的变异效应量化对于理解遗传疾病至关重要.

研究的目的:

  • 开发一个集成的实验和计算管道,以改善基础编辑屏幕中变异效应的估计.
  • 为了提高CRISPR基编辑屏幕的精度和可扩展性,用于疾病变体的表征.
  • 确定参与脂质代谢调节的新基因和机制.

主要方法:

  • 开发一个记者构造,同时测量指导RNA编辑效率和表型后果.
  • 基础编辑器屏幕分析与活动规范化 (BEAN) 的介绍,这是一个用于变异影响估计的贝叶斯网络.
  • 在BEAN中整合每个指南的编辑结果和目标部位染色体可访问性数据.
  • 应用BEAN来分析低密度脂蛋白 (LDL) 吸收和LDLR变体的致病性.

主要成果:

  • 在量化变异效应方面,BEAN显著优于现有的工具.
  • 确定了影响LDL吸收的常见调节变异,涉及新型基因.
  • 在LDLR中精确量化错误变异的致病性,与临床数据一致.
  • 发现了变异性致病性的潜在结构机制.

结论:

  • 开发的管道和BEAN提供了一个广泛适用的方法来增强CRISPR基础编辑屏幕.
  • 这种方法提高了与疾病相关的变体及其功能影响的特征能力.
  • 这些发现为脂肪代谢和心血管疾病风险的遗传调节提供了新的见解.