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相关概念视频

Multiple Allele Traits01:49

Multiple Allele Traits

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The Concept of Multiple Allelism
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Law of Segregation01:49

Law of Segregation

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When crossing pea plants, Mendel noticed that one of the parental traits would sometimes disappear in the first generation of offspring, called the F1 generation, and could reappear in the next generation (F2). He concluded that one of the traits must be dominant over the other, thereby causing masking of one trait in the F1 generation. When he crossed the F1 plants, he found that 75% of the offspring in the F2 generation had the dominant phenotype, while 25% had the recessive phenotype.
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Genetic Lingo01:11

Genetic Lingo

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Overview
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Incomplete Dominance01:43

Incomplete Dominance

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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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Hardy-Weinberg Principle01:49

Hardy-Weinberg Principle

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Diploid organisms have two alleles of each gene, one from each parent, in their somatic cells. Therefore, each individual contributes two alleles to the gene pool of the population. The gene pool of a population is the sum of every allele of all genes within that population and has some degree of variation. Genetic variation is typically expressed as a relative frequency, which is the percentage of the total population that has a given allele, genotype or phenotype.
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Genetic Variation01:25

Genetic Variation

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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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Updated: Jul 15, 2025

Quantifying Abdominal Pigmentation in Drosophila melanogaster
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分享和重用可计算的表型定义.

Shyam Visweswaran1,2, Louisa Yu Zhang3, Kevin Bui1

  • 1Department of Biomedical Informatics, University of Pittsburgh, Pittsburgh, PA, USA.

medRxiv : the preprint server for health sciences
|October 4, 2023
PubMed
概括
此摘要是机器生成的。

一个新的工具,Sharephe,可以轻松共享和重复使用可计算的表型定义. 这有助于电子健康记录在各个机构中重新用于研究和队列识别.

关键词:
临床数据仓库 临床数据仓库队列识别队列识别可计算的现象型.电子健康记录 电子健康记录

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相关实验视频

Last Updated: Jul 15, 2025

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Quantifying Abdominal Pigmentation in Drosophila melanogaster

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Heuristic Mining of Hierarchical Genotypes and Accessory Genome Loci in Bacterial Populations
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科学领域:

  • 生物医学信息学 生物医学信息学
  • 健康 数据科学 数据科学
  • 临床研究信息学 临床研究信息学

背景情况:

  • 可扩展的共享和可计算的表型定义的重用对于利用电子健康记录 (EHR) 至关重要.
  • 高效的EHR重复使用支持队列识别和临床研究研究.
  • 标准化的表型定义提高了数据互操作性和研究可重现性.

研究的目的:

  • 开发和评估Sharephe,这是一个旨在在生物和床边 (i2b2) 平台集成信息学中的可计算表型定义共享和重复使用的工具.
  • 通过改进表型定义管理,提高EHR数据用于研究的可访问性和可重复使用性.

主要方法:

  • 开发了Sharephe,包括一个i2b2插件和可计算的表型的基于云的存储库.
  • 实现了进口/出口表型和链接支持元数据的功能.
  • 利用i2b2平台,在没有复杂查询语言知识的情况下实现表型创建,评估和实现.

主要成果:

  • 在Evolve to Next-Gen ACT (ENACT) 网络的两个站点的初步评估中,Sharephe成功地促进了表型的创建,共享和重复使用.
  • 该工具展示了从中央存储库存储和检索表型的能力,从而实现跨站点的协作.

结论:

  • 基于云的存储库与i2b2插件的集成有助于存储和检索表型.
  • Sharephe使研究人员能够从任何地点,任何时间访问和使用表型.
  • 通过这个共享平台,研究网络中的跨站点协作得到了显著的增强.