在大量人群中测试性别差异的遗传模型的质量控制和分析最佳实践
Ekaterina A Khramtsova1, Melissa A Wilson2, Joanna Martin3
1Population Analytics and Insights, Data Science Analytics & Insights, Janssen R&D, Lower Gwynedd Township, PA, USA.
Cell
|May 12, 2023
概括
性感基因分析对于理解复杂的特征和疾病至关重要. 这份指南详细介绍了研究性别相关遗传效应的最佳实践,推进精准医学和健康公平.
科学领域:
- 遗传学和基因组学
- 人类生物学
- 精准医学
背景情况:
- 在许多复杂的特征中观察到现象性差异.
- 即使具有相似的表型,潜在的生物机制也可能因性别而异.
- 性感基因分析对于全面了解特征变异至关重要.
研究的目的:
- 提供有关性别认知遗传分析最佳实践的指南.
- 在复杂的特征和疾病中概述测试性别依赖的遗传效应的方法.
- 突出这些分析对促进生物理解和精准医学的重要性.
主要方法:
- 审查和综合目前的基因分析方法,将性别视为生物变量.
- 关于检测性别依赖遗传效应的统计建模方法的指导.
- 讨论性意识遗传研究的发展.
主要成果:
- 建立了将性别纳入复杂特征遗传分析的最佳实践.
- 确定模拟性别依赖遗传效应的关键考虑因素.
- 强调了这一研究领域日益重要和不断发展的性质.
结论:
- 有关性别的基因分析对于揭示复杂特征和疾病的生物学基础至关重要.
- 采用这些分析方法将有助于实现精准医学和健康公平.
- 鼓励在性别意识遗传学方面进行进一步的研究和方法开发.
相关概念视频
The Ratio of X Chromosome to Autosomes
8.6K
In most organisms, sex is determined by the ratio of X and Y chromosomes. However, in some organisms, such as Drosophila and C.elegans, sex is determined by the ratio of the number of X chromosomes to the number of sets of autosomes. The Y chromosome in Drosophila is active but does not determine sex. It contains genes responsible for the production of sperms in adult flies.
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
Normal male Drosophila has a ratio of one X chromosome to two sets of autosomes. In contrast, normal female...
8.6K
Behavioral Genetics and Its Designs
435
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...
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...
435
Mechanistic Models: Compartment Models in Individual and Population Analysis
68
Mechanistic models are utilized in individual analysis using single-source data, but imperfections arise due to data collection errors, preventing perfect prediction of observed data. The mathematical equation involves known values (Xi), observed concentrations (Ci), measurement errors (εi), model parameters (ϕj), and the related function (ƒi) for i number of values. Different least-squares metrics quantify differences between predicted and observed values. The ordinary least...
68
What is Population Genetics?
58.6K
A population is composed of members of the same species that simultaneously live and interact in the same area. When individuals in a population breed, they pass down their genes to their offspring. Many of these genes are polymorphic, meaning that they occur in multiple variants. Such variations of a gene are referred to as alleles. The collective set of all the alleles within a population is known as the gene pool.
58.6K
Genome-wide Association Studies-GWAS
13.7K
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...
GWAS does not require the identification of the target gene involved in...
13.7K
Incomplete Dominance
22.9K
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.
22.9K


