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Genome-wide Association Studies-GWAS

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.
GWAS does not require the identification of the target gene involved in...

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Related Experiment Video

Updated: Jun 6, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

Published on: August 21, 2016

Mapping rare protein-coding variants on multi-organ imaging traits.

Yijun Fan¹, Jie Chen², Zirui Fan³

¹Graduate Group in Applied Mathematics and Computational Science, University of Pennsylvania, Philadelphia, PA 19104, USA.

Medrxiv : the Preprint Server for Health Sciences

|November 28, 2024

Summary

This summary is machine-generated.

This study explored rare genetic variations and their impact on human organ structure and function using magnetic resonance imaging (MRI) data from over 50,000 individuals. Researchers identified significant gene-trait associations, revealing insights into shared genetic regulation across organs.

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Last Updated: Jun 6, 2025

Screening for Functional Non-coding Genetic Variants Using Electrophoretic Mobility Shift Assay EMSA and DNA-affinity Precipitation Assay DAPA

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Mapping Alzheimer's Disease Variants to Their Target Genes Using Computational Analysis of Chromatin Configuration

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Area of Science:

Genetics
Medical Imaging
Human Physiology

Background:

Human organ structure and function are key indicators of clinical outcomes.
Genome-wide association studies (GWAS) have linked common genetic variants to brain and body phenotypes from magnetic resonance imaging (MRI).
The impact of rare protein-coding variations on organ size and function remains largely unexplored.

Purpose of the Study:

To conduct an exome-wide association study (EWAS) of 596 multi-organ MRI traits in over 50,000 UK Biobank participants.
To investigate the role of rare genetic variants in human organ morphology and function.
To identify novel gene-trait associations and understand shared genetic regulation across organs.

Main Methods:

Performed an exome-wide association study on 596 multi-organ MRI traits.
Analyzed data from over 50,000 individuals in the UK Biobank.
Utilized variant-level and gene-based burden association models, incorporating singleton burden and AlphaMissense annotations.

Main Results:

Identified 107 variant-level and 224 gene-based associations across various MRI modalities.
Discovered significant associations, including PTEN with total brain volume, TTN with heart function, and TNFRSF13B with spleen volume.
Uncovered 8 unique gene-trait pairs using singleton burden and AlphaMissense, including KCNA5 with brain functional activity.

Conclusions:

Rare coding variants significantly contribute to understanding genetic effects on human organ morphology and function.
The findings elucidate shared genetic regulation across different organs and prioritize potential drug targets.
This study enhances the understanding of genetic influences on complex diseases through organ-specific traits.