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相关概念视频

Polygenic Traits01:18

Polygenic Traits

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When more than one gene is responsible for a given phenotype, the trait is considered polygenic. Human height is a polygenic trait. Studies have uncovered hundreds of loci that influence height, and there are believed to be many more. Due to the high number of genes involved, as well as environmental and nutritional factors, height varies significantly within a given population. The distribution of height forms a bell-shaped curve, with relatively few individuals in the population at the...
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Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches01:23

Types of Biopharmaceutical Studies: Controlled and Non-Controlled Approaches

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Biopharmaceutical studies constitute a vital field aiming to enhance drug delivery methods and refine therapeutic approaches, drawing upon diverse interdisciplinary knowledge. In research methodologies, the choice between controlled and non-controlled studies significantly influences the study's reliability and accuracy.
Non-controlled studies, commonly employed for initial exploration, lack a control group, rendering them susceptible to biases and external influences. In contrast,...
114
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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Estimating Population Mean with Known Standard Deviation01:16

Estimating Population Mean with Known Standard Deviation

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To construct a confidence interval for a single unknown population mean μ, where the population standard deviation is known, we need sample mean as an estimate for μ and we need the margin of error. Here, the margin of error (EBM) is called the error bound for a population mean (abbreviated EBM). The sample mean is the point estimate of the unknown population mean μ.
The confidence interval estimate will have the form as follows:
(point estimate - error bound, point estimate +...
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Estimating Population Standard Deviation01:26

Estimating Population Standard Deviation

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When the population standard deviation is unknown and the sample size is large, the sample standard deviation s is commonly used as a point estimate of σ. However, it can sometimes under or overestimate the population standard deviation. To overcome this drawback, confidence intervals are determined to estimate population parameters and eliminate any calculation bias accurately. However, this only applies to random samples from normally distributed populations. Knowing the sample mean and...
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Prediction Intervals01:03

Prediction Intervals

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The interval estimate of any variable is known as the prediction interval. It helps decide if a point estimate is dependable.
However, the point estimate is most likely not the exact value of the population parameter, but close to it. After calculating point estimates, we construct interval estimates, called confidence intervals or prediction intervals. This prediction interval comprises a range of values unlike the point estimate and is a better predictor of the observed sample value, y. 
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相关实验视频

Updated: May 30, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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基于参考的标准化方法稳定小批量风险预测通过多基因评分.

Yoichi Sutoh1,2, Tsuyoshi Hachiya1,2, Yayoi Otsuka-Yamasaki1,2

  • 1Division of Biomedical Information Analysis, Iwate Tohoku Medical Megabank Organization, Disaster Reconstruction Center, Iwate Medical University, Yahaba, Japan.

Genetic epidemiology
|January 31, 2025
PubMed
概括
此摘要是机器生成的。

一种新的基于参考的方法为个性化健康标准化多基因分数 (PGS). 这种方法验证了PGS,改善了预防性行为改变的风险沟通.

关键词:
行为变化 行为变化遗传咨询 遗传咨询 遗传咨询遗传风险评估 遗传风险评估多基因分数的多基因分数.预防 预防 预防标准化方法的标准化方法.

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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相关实验视频

Last Updated: May 30, 2025

Large-Scale Multi-Omics Genome-Wide Association Studies Mo-GWAS: Guidelines for Sample Preparation and Normalization
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation
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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation

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科学领域:

  • 遗传学 是一个遗传学.
  • 生物信息学是一种生物信息学.
  • 预防医学 预防医学

背景情况:

  • 多基因分数 (PGS) 显示了激发预防性健康行为的潜力.
  • 目前还没有临床验证的PGS标准化方法.
  • 标准化对于可靠的风险沟通和PGS临床实施至关重要.

研究的目的:

  • 为了证明"基于参考"的方法对标准化多基因分数 (PGS) 的有效性.
  • 调查参考人口大小,基因型平台偏见和亲属关系对PGS计算的影响.
  • 为制定PGS实施临床指南提供见解.

主要方法:

  • 使用基于参考的方法,使用一般人口的PGS分布进行正常化和百分位数的确定.
  • 研究了参考人口大小对PGS百分位数的启动标准误差估计的影响.
  • 评估了由于不同的基因型平台而导致的PGS偏差,并评估了匹配祖先和使用共享遗传变异的影响.

主要成果:

  • 参考种群大小对PGS百分位数的标准误差的启动估计有影响,在极端百分位数时的影响会减小.
  • 基因造型平台的差异导致了显著的PGS偏差 (p < 0.05),通过匹配祖先和使用共享变异来减轻这些偏差.
  • 与天真的基因型计算相比,基于参考的标准化方法恢复了PGS的约9.6%的积极预测值.

结论:

  • 基于参考的方法在标准化多基因分数方面表现出有效性.
  • 了解参考尺寸和基因型平台等影响因素对于准确的PGS计算至关重要.
  • 这项研究为开发可靠的基于PGS的风险沟通临床指南提供了基本的见解.