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Related Concept Videos

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.
GWAS does not require the identification of the target gene involved in...
Pharmacogenomics: Identification of New Drug Targets01:29

Pharmacogenomics: Identification of New Drug Targets

Advances in genomics have profoundly influenced drug discovery by increasing both the speed and accuracy of pharmaceutical development. Pharmacogenomics, which examines how genetic variation influences drug response, facilitates the identification of novel therapeutic targets and enables patient stratification for personalized treatment. These strategies contribute to improved drug efficacy, minimized adverse effects, and more efficient clinical trial design.Mapping genetic differences...
Human Genetics01:28

Human Genetics

Human genetics provides a profound framework for understanding the interplay between genetic predispositions and human psychology. At the heart of this discipline lies the study of how genes influence physical traits, behaviors, and susceptibility to diseases. Each person carries a unique genetic code that subtly or significantly shapes their psychological and behavioral landscape.
The complex relationship between genetics and psychology is observable through common biological components such...
Behavioral Genetics and Its Designs01:23

Behavioral Genetics and Its Designs

Behavior genetics explores how genetic inheritance influences human behavior. It focuses on how genes, passed from parents to offspring, contribute to the development of behavioral traits and tendencies. This branch of genetics seeks to understand the complex interplay between inherited genetic factors and environmental influences in shaping our behaviors.
The primary methodologies used in behavior genetics include family studies, twin studies, and adoption studies, each providing unique...

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Related Experiment Video

Updated: May 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Published on: June 21, 2018

Decoding the genetic architecture of hernia through genome-wide association and multi-trait analyses.

Andrew M Pregnall1, Shuai Yuan1,2, Jeremy M Lawrence3,4

  • 1Department of Surgery, Perelman School of Medicine, University of Pennsylvania, Philadelphia, PA.

Medrxiv : the Preprint Server for Health Sciences
|May 25, 2026
PubMed
Summary

Genetic factors influence hernia development, with shared and distinct genetic architectures across subtypes. This study identifies key genes and causal variants, paving the way for precision medicine in hernia prevention and treatment.

Keywords:
Mendelian randomizationgenome wide association studygenomic structural equation modelingherniamulti-population meta-analysis

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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
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Published on: July 27, 2021

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Last Updated: May 26, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
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Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization
08:27

Large-Scale Multi-Omics Genome-Wide Association Studies (Mo-GWAS): Guidelines for Sample Preparation and Normalization

Published on: July 27, 2021

Area of Science:

  • Genetics
  • Public Health
  • Genomics

Background:

  • Hernias are a significant global health issue with poorly understood genetic underpinnings.
  • Genetic mechanisms and their overlap across different hernia subtypes require further elucidation.

Purpose of the Study:

  • To investigate the shared and distinct genetic architecture of multiple hernia subtypes.
  • To identify genetic loci, causal variants, and biological pathways associated with hernia susceptibility.
  • To explore the genetic relationship between different hernia types and identify risk factors.

Main Methods:

  • Multi-population genome-wide association meta-analysis of five hernia subtypes.
  • Gene prioritization analysis.
  • Genomic structural equation modeling.
  • Mendelian randomization analysis.

Main Results:

  • Identified 243 genome-wide significant loci, including 173 novel associations for hernias.
  • Highlighted genes involved in extracellular matrix organization and development.
  • Discovered 30 causal variants shared across hernia subtypes.
  • Revealed two distinct genetic factors for midline fusion defects and inguinofemoral hernias.
  • Confirmed causal roles of BMI and adipose tissue in hernia development.

Conclusions:

  • Delineated the shared and distinct genetic architecture of hernia subtypes.
  • Provided a mechanistic basis for precision risk stratification in hernias.
  • Identified potential therapeutic targets for hernia prevention and treatment.