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Related Concept Videos

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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Genome-wide Association Studies-GWAS01:11

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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.
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Probability Laws01:49

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Overview
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Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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Relative Risk01:12

Relative Risk

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Relative risk (RR) is a statistical measure commonly used in epidemiology to compare the likelihood of a particular event occurring between two groups. This metric is important for evaluating the relationship between exposure to a specific risk factor and the probability of a particular outcome. It plays a crucial role in medical research, public health studies, and risk assessment. Relative risk quantifies how much more (or less) likely an event is to occur in an exposed group compared to an...
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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.
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Related Experiment Video

Updated: Aug 8, 2025

Generalized Psychophysiological Interaction PPI Analysis of Memory Related Connectivity in Individuals at Genetic Risk for Alzheimer's Disease
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BridgePRS : A powerful trans-ancestry Polygenic Risk Score method.

Clive Hoggart, Shing Wan Choi, Judit García-González

    Biorxiv : the Preprint Server for Biology
    |March 3, 2023
    PubMed
    Summary
    This summary is machine-generated.

    A new method, BridgePRS, improves Polygenic Risk Score (PRS) accuracy in non-European populations by leveraging shared genetic effects. This advances precision medicine for diverse ancestries.

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    Area of Science:

    • Genetics and Genomics
    • Bioinformatics
    • Precision Medicine

    Background:

    • Polygenic Risk Scores (PRS) are crucial for precision medicine but are often inaccurate in non-European populations due to reliance on European-ancestry Genome-Wide Association Studies (GWAS) data.
    • This ancestry bias limits the equitable application of PRS in global health initiatives.
    • Developing ancestry-aware PRS methods is essential for reducing health disparities.

    Approach:

    • Introducing BridgePRS, a novel Bayesian method that enhances PRS accuracy in under-represented populations by utilizing shared genetic effects across ancestries.
    • Evaluating BridgePRS performance using simulated data and real-world UK Biobank and Biobank Japan GWAS summary statistics across 19 traits in African, South Asian, and East Asian individuals.
    • Comparing BridgePRS against PRS-CSx and single-ancestry PRS methods, with out-of-cohort validation in the Mount Sinai BioMe Biobank.

    Key Points:

    • Simulations show BridgePRS performance improves relative to PRS-CSx under conditions of increased uncertainty, such as lower heritability and higher genetic diversity.
    • Real-data analyses confirm BridgePRS superior predictive accuracy in African ancestry samples, demonstrating a 60% boost in mean R² for out-of-cohort prediction compared to PRS-CSx.
    • BridgePRS offers a computationally efficient, full PRS analysis pipeline suitable for diverse populations.

    Conclusions:

    • BridgePRS significantly enhances the accuracy and utility of Polygenic Risk Scores in non-European populations.
    • This method represents a substantial advancement for precision medicine, promoting more equitable genetic risk prediction.
    • BridgePRS provides a powerful tool for researchers and clinicians aiming to serve diverse global populations.