相关实验视频

Updated: Sep 9, 2025

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

10.2K

一个新型的双样本孟德尔随机化框架,整合常见和罕见的变异:用于评估HDL-C对妊娠前风险的影响

Yu Zhang1, Ming Li1, David M Haas2

  • 1Department of Epidemiology and Biostatistics, Indiana University School of Public Health-Bloomington, Bloomington, IN 47405, USA.

medRxiv : the preprint server for health sciences
|September 2, 2025
PubMed
概括

门德尔随机化 (MR) 现在整合了罕见的遗传变异,以获得更强的因果推断. 新的MR-CARV框架提高了遗传关联研究的统计能力和精度.

关键词:
孟德尔随机化斯塔尔管道常见的变种脂质产前症罕见的变种

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Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information09:37

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Determining the Likelihood of Variant Pathogenicity Using Amino Acid-level Signal-to-Noise Analysis of Genetic Variation07:15

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相关概念视频

Randomized Experiments01:13

Randomized Experiments

The randomization process involves assigning study participants randomly to experimental or control groups based on their probability of being equally assigned. Randomization is meant to eliminate selection bias and balance known and unknown confounding factors so that the control group is similar to the treatment group as much as possible. A computer program and a random number generator can be used to assign participants to groups in a way that minimizes bias.
Simple randomization
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Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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.
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Punnett Squares01:00

Punnett Squares

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Chi-square Analysis02:46

Chi-square Analysis

The chi-square test is a statistical hypothesis test. It is used to check whether there is a significant difference between an expected value and an observed value. In the context of genetics, it enables us to either accept or reject a hypothesis, based on how much the observed values deviate from the expected values.
The chi-square test was developed by Pearson in 1990.
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Pleiotropy01:33

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Regression Toward the Mean01:52

Regression Toward the Mean

Regression toward the mean (“RTM”) is a phenomenon in which extremely high or low values—for example, and individual’s blood pressure at a particular moment—appear closer to a group’s average upon remeasuring. Although this statistical peculiarity is the result of random error and chance, it has been problematic across various medical, scientific, financial and psychological applications. In particular, RTM, if not taken into account, can interfere when...
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