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Related Concept Videos

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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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Genetic screens are tools used to identify genes and mutations responsible for phenotypes of interest. Genetic screens help identify individuals or a group of people at risk of developing  genetic diseases and help them with early intervention, targeted therapy, and reproductive options.
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Genome comparison is one of the excellent ways to interpret the evolutionary relationships between organisms. The basic principle of genome comparison is that if two species share a common feature, it is likely encoded by the DNA sequence conserved between both species. The advent of genome sequencing technologies in the late 20th century enabled scientists to understand the concept of conservation of domains between species and helped them to deduce evolutionary relationships across diverse...
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Related Experiment Video

Updated: Jul 9, 2025

Navigating MARRVEL, a Web-Based Tool that Integrates Human Genomics and Model Organism Genetics Information
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PhenoExplorer: An Interactive Web-based Platform for Exploring (Epi)Genome-Wide Associations Using a Swiss

Jean-Pierre Ghobril1, Dusan Petrovic2, Georg Ehret3

  • 1Department of Epidemiology and Health Systems (DESS), University Center for General Medicine and Public Health (UNISANTE), Lausanne, Switzerland. jean-pierre.ghobril@unisante.ch.

Chimia
|December 9, 2023
PubMed
Summary

Large-scale genomic and epigenomic studies identified thousands of associations between genetic markers and various health traits in a Swiss population. These findings are now accessible via the PhenoExplorer platform for broader research use.

Keywords:
EWASGWASPhenoExplorerPopulation-basedSKIPOGH

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Area of Science:

  • Genetics and Genomics
  • Epigenetics
  • Population Health

Background:

  • High-throughput sequencing enables exploration of genetic and epigenetic contributions to complex traits.
  • Population-based studies are crucial for understanding the genetic architecture of common diseases and phenotypes.

Purpose of the Study:

  • To conduct large-scale Genome-Wide Association Studies (GWAS) and Epigenome-Wide Association Studies (EWAS) in a Swiss population.
  • To investigate associations between Single Nucleotide Polymorphisms (SNPs) and Cytosine-Phospho-Guanine (CpG) markers with a wide range of phenotypes.
  • To develop an accessible web-based platform (PhenoExplorer) for sharing study results.

Main Methods:

  • Utilized data from the SKIPOGH cohort (N=1100) including 7.5 million SNPs, 420,000 CpGs, and 825 phenotypes.
  • Performed GWAS for SNP-metabolite/metal associations and EWAS for CpG-phenotype associations.
  • Adjusted for covariates including age, sex, recruitment center, familial structure, and seasonality for EWAS.

Main Results:

  • Identified 2091 unique SNPs significantly associated with 103 phenotypes in GWAS.
  • Discovered 2578 unique CpGs significantly associated with 109 phenotypes in EWAS.
  • Developed and launched the PhenoExplorer web platform to provide open access to all GWAS and EWAS results.

Conclusions:

  • This study provides a comprehensive overview of SNP and CpG associations with complex phenotypes in a Swiss population.
  • The PhenoExplorer platform facilitates access to these findings, promoting further research into the role of molecular variants in human health.
  • The results contribute to understanding the genetic and epigenomic underpinnings of diverse phenotypic traits.