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Related Concept Videos

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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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Regression Toward the Mean01:52

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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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Shrinkage in Concrete01:27

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Shrinkage in concrete is primarily due to water loss from evaporation, hydration of cement, or carbonation, leading to a reduction in volume. The volumetric contraction results in volumetric strain in concrete. However, in practice, shrinkage is measured as linear strain, which is one-third of the volumetric strain.
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Drying Shrinkage01:21

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When hardened concrete is exposed to air with a relative humidity of less than 100 percent, it begins to lose the free water within its capillaries. As this water evaporates, the water initially adsorbed onto the calcium silicate hydrates migrates towards these now empty spaces and eventually evaporates as well. Over time, as more water leaves, the volume of the concrete decreases, a phenomenon known as drying shrinkage.
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Carbonation Shrinkage01:24

Carbonation Shrinkage

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Atmospheric CO2 penetrates the concrete's pores and, in the presence of moisture, forms carbonic acid, which then reacts with calcium hydroxide in the hydrated cement, forming calcium carbonate. This process reduces the concrete's volume and is termed carbonation shrinkage.
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Multiple Regression01:25

Multiple Regression

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Multiple regression assesses a linear relationship between one response or dependent variable and two or more independent variables. It has many practical applications.
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Polygenic prediction via Bayesian regression and continuous shrinkage priors.

Tian Ge1,2,3, Chia-Yen Chen4,5,6,7, Yang Ni8

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We developed PRS-CS, a new method for polygenic risk scores (PRS) that improves prediction of complex traits and diseases by using continuous shrinkage priors on single nucleotide polymorphism (SNP) effect sizes.

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Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Polygenic risk scores (PRS) are valuable for predicting complex traits and diseases.
  • Existing methods for PRS often struggle with complex genetic architectures and large datasets.

Purpose of the Study:

  • To introduce PRS-CS, a novel Bayesian regression method for polygenic risk score prediction.
  • To enhance the accuracy and computational efficiency of PRS.
  • To model local linkage disequilibrium (LD) patterns effectively.

Main Methods:

  • Developed PRS-CS, employing a high-dimensional Bayesian regression framework.
  • Utilized a continuous shrinkage (CS) prior on single nucleotide polymorphism (SNP) effect sizes.
  • Incorporated an external linkage disequilibrium (LD) reference panel and genome-wide association summary statistics.

Main Results:

  • PRS-CS demonstrated superior performance compared to existing methods in simulations across diverse genetic architectures.
  • Performance gains were particularly notable with large training sample sizes.
  • PRS-CS showed improved prediction accuracy for complex diseases and quantitative traits in a real-world biobank.

Conclusions:

  • PRS-CS offers a robust and computationally efficient approach for polygenic risk score prediction.
  • The continuous shrinkage prior effectively handles complex genetic architectures.
  • PRS-CS represents a significant advancement in predicting complex traits and diseases using genetic data.