评估下方样本GWAS总结统计数据可比性的指导方针
Camille M Williams1,2, Holly Poore3, Peter T Tanksley4
1Department of Psychology, University of Texas at Austin, Austin, TX, USA. williams.m.camille@gmail.com.
Behavior genetics
|September 15, 2023
概括
用于全基因组关联研究 (GWAS) 的低采样遗传数据可能会降低统计能力,但对于多变量分析 (如 Genomic SEM) 保持强大的发现,支持开放科学数据共享实践.
科学领域:
- 遗传学 遗传学 是一个
- 精神病学基因组学 精神病学基因学
- 统计遗传学 统计遗传学
背景情况:
- 专有遗传数据集增强了全基因组关联研究 (GWAS) 的能力,但限制了总结统计数据的公开共享.
- 低采样数据集以排除受限制数据可以降低统计能力,并可能改变遗传病因.
- 多变量GWAS方法,如基因组SEM,进一步复杂化数据共享,因为它模拟了跨特征的遗传相关性.
研究的目的:
- 提出和验证一个系统的方法来评估GWAS总结统计的可比性,这些统计数据来源于完整的数据集,而不是采样数据集.
- 评估下方采样对单变GWAS,多变基因 SEM 和下游遗传分析的影响.
主要方法:
- 开发了一种系统的方法来比较GWAS总结统计数据从完整和下方样本数据集.
- 将方法应用于一个外部化因子的多变量GWAS.
- 对单变GWAS信号强度的评估影响,基因 SEM 因素负载和模型合适,基因属性分析,遗传相关性和多基因得分分析.
主要成果:
- 减量采样导致遗传信号的减少,并在单变GWAS中减少了全基因组显著位置的数量.
- 多变量基因组SEM因子负载,模型匹配,基因属性分析,遗传相关性和多基因评分分析尽管减少了采样,但仍然很强大.
- 拟议的方法证实了GWAS外部化因子的完整和下面样本数据集之间的关键发现的可比性.
结论:
- 减少GWAS专有遗传数据的采样是一种可行的策略,可以保持多变量分析和遗传相关性的稳定性.
- 分享下方样本总结统计数据的研究人员应提供附带文件,详细说明这些可比性分析.
- 这促进了数据共享,促进了开放科学原则,同时承认了潜在的电力限制.
相关概念视频
Genome-wide Association Studies-GWAS
13.6K
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...
13.6K
One-Way ANOVA: Equal Sample Sizes
3.3K
One-Way ANOVA can be performed on three or more samples with equal or unequal sample sizes. When one-way ANOVA is performed on two datasets with samples of equal sizes, it can be easily observed that the computed F statistic is highly sensitive to the sample mean.
Different sample means can result in different values for the variance estimate: variance between samples. This is because the variance between samples is calculated as the product of the sample size and the variance between the...
Different sample means can result in different values for the variance estimate: variance between samples. This is because the variance between samples is calculated as the product of the sample size and the variance between the...
3.3K
Test for Homogeneity
2.0K
The goodness–of–fit test can be used to decide whether a population fits a given distribution, but it will not suffice to decide whether two populations follow the same unknown distribution. A different test, called the test for homogeneity, can be used to conclude whether two populations have the same distribution. To calculate the test statistic for a test for homogeneity, follow the same procedure as with the test of independence. The hypotheses for the test for homogeneity can...
2.0K
One-Way ANOVA: Unequal Sample Sizes
5.8K
One-way ANOVA can be performed on three or more samples of unequal sizes. However, calculations get complicated when sample sizes are not always the same. So, while performing ANOVA with unequal samples size, the following equation is used:
5.8K
Wilcoxon Signed-Ranks Test for Median of Single Population
165
The Wilcoxon signed-rank test for the median of a single population is a nonparametric test used to evaluate whether the median of a population differs from a specified value. Unlike parametric tests, it does not require data to follow a normal distribution, making it suitable for non-normal or small samples. The test begins by calculating the difference (d) between each observation and the hypothesized median. The absolute values of these differences are ranked in ascending order, with ties...
165
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%...
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


