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Updated: Jun 3, 2025

In Vivo Modeling of the Morbid Human Genome using Danio rerio
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细胞状态依赖的等位体效应和人类大脑表型的上下文门德尔随机化分析

Alexander Haglund1, Verena Zuber2,3,4, Maya Abouzeid1

  • 1Department of Brain Sciences, Faculty of Medicine, Imperial College London, London, UK.

Nature genetics
|January 10, 2025
PubMed
概括

大脑疾病显著影响基因-表型链接,改变遗传推断. 分析非患病的大脑澄清了基因效应,并确定了中枢神经系统 (CNS) 疾病的潜在生物标志物.

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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.
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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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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.
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