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相关概念视频

Background and Environment Affect Phenotype02:27

Background and Environment Affect Phenotype

6.6K
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...
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Genetic Screens02:46

Genetic Screens

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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
Forward genetic screens
Forward or “classical” genetic screens involve creating random mutations in an organism’s DNA using radiation, mutagens, or insertion of additional bases, which...
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Epistasis Analysis01:09

Epistasis Analysis

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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...
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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Genome-wide association studies or GWAS are used to identify whether common SNPs are associated with certain diseases. Suppose specific SNPs are more frequently observed in individuals with a particular disease than those without the disease. In that case, those SNPs are said to be associated with the disease. Chi-square analysis is performed to check the probability of the allele likely to be associated with the disease.
GWAS does not require the identification of the target gene involved in...
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Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

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Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
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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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相关实验视频

Updated: Jul 18, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information

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表型-基因型参考地图:通过复制改进生物库数据科学.

Lisa Bastarache1, Sarah Delozier1, Anita Pandit2

  • 1Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, TN, USA.

American journal of human genetics
|August 22, 2023
PubMed
概括
此摘要是机器生成的。

我们开发了一种表型-基因型参考地图 (PGRM),使用5,879个遗传关联,以实现遗传发现的高通量复制. 该工具标准化了可互操作的表型,并有助于在生物库中评估数据质量和可复制性.

关键词:
在GWAS中,GWAS就是GWAS.菲瓦斯 (Phewas) 是一个小行星.生物银行是生物银行.数据质量数据质量数据质量电子健康记录是电子健康记录.传染病代码 传染病代码现型定制 现型定制 现型定制复制复制复制复制复制复制复制

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相关实验视频

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration
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科学领域:

  • 遗传学 遗传学是一种遗传学.
  • 生物信息学是一种生物信息学.
  • 计算生物学 计算生物学

背景情况:

  • 与电子健康记录 (EHR) 相关的人口规模生物库为推进人类遗传学研究提供了重大潜力.
  • 这些生物库对于发现新型表型-基因型关联和进行大规模复制研究至关重要.

研究的目的:

  • 引入表型-基因型参考图 (PGRM) 以实现遗传关联的高通量复制.
  • 通过使用fecodes来标准化表型,以提高跨多种生物库的互操作性.
  • 探索影响全基因组关联研究 (GWAS) 结果可复制性的因素.

主要方法:

  • 从523个GWAS出版物中编制了5,879个遗传关联的参考地图 (PGRM).
  • 在PGRM中将所有表型标准化为phecodes,以提供一致的数据表示.
  • 将PGRM应用于来自四个独立生物库的五个祖先特定群体进行复制分析.

主要成果:

  • 在多个生物库中,在广泛的表型中证明了基因关联的强大复制.
  • 展示了PGRM在检测数据腐败和优化全现象关联研究参数方面的实用性.
  • 确定了影响GWAS研究结果可复制性的关键因素.

结论:

  • PGRM是生物库数据中遗传关联的高通量复制的宝贵资源.
  • 通过fecodes标准化的表型对于跨生物库数据集成和分析至关重要.
  • 该PGRM有助于对数据质量进行经验评估,并了解GWAS结果可复制性的理解.