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相关概念视频

Genetic Variation01:25

Genetic Variation

311
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,...
311
Multiple Allele Traits01:49

Multiple Allele Traits

34.3K
The Concept of Multiple Allelism
34.3K
Incomplete Dominance01:43

Incomplete Dominance

22.7K
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.
22.7K
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
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
Mutation, Gene Flow, and Genetic Drift01:09

Mutation, Gene Flow, and Genetic Drift

58.5K
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).
58.5K

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相关实验视频

Updated: Jul 16, 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

20.7K

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, Center for Cancer Research, Massachusetts General Hospital, Boston, MA, USA.

medRxiv : the preprint server for health sciences
|September 21, 2023
PubMed
概括

这项研究引入了一条新的管道,用于精确测量基因变异如何使用CRISPR基编辑屏幕影响疾病. 该方法提高了变体分类和效应量化的准确性,以更好地发现疾病基因.

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.

更多相关视频

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
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Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

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Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

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相关实验视频

Last Updated: Jul 16, 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

20.7K
Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors
09:22

Functional Assessment of BRCA1 variants using CRISPR-Mediated Base Editors

Published on: February 28, 2021

5.5K
Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA
11:35

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

Published on: August 21, 2016

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背景情况:

  • 克里斯普尔基编辑屏幕对于研究疾病变体有价值,但在变量编辑效率和精度方面面临挑战.
  • 对变异诱导的表型效应的准确评估被基调编辑扰乱中的不一致性所困扰.

结论:

  • 这一集成管道显著提高了基础编辑器屏幕的功能,用于表征与疾病相关的变体.
  • 该方法提供了一种广泛适用的方法,用于改进遗传查中的变异影响评估.
  • 这些发现有助于更好地了解影响LDL代谢和疾病致病性的遗传因素.