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Related Concept Videos

Single Nucleotide Polymorphisms-SNPs01:05

Single Nucleotide Polymorphisms-SNPs

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,...
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...
Comparing Copy Number Variations and SNPs02:26

Comparing Copy Number Variations and SNPs

Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
Copy number variations or CNVs are the structural variations that cover more than 1kb of DNA sequence. The single nucleotide polymorphism (SNP), on the other hand, is a single nucleotide change or a point mutation that is found in more than 1%...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
Gene Evolution - Fast or Slow?02:05

Gene Evolution - Fast or Slow?

The genomes of eukaryotes are punctuated by long stretches of sequence which do not code for proteins or RNAs. Although some of these regions do contain crucial regulatory sequences, the vast majority of this DNA serves no known function. Typically, these regions of the genome are the ones in which the fastest change, in evolutionary terms, is observed, because there is typically little to no selection pressure acting on these regions to preserve their sequences.
In contrast, regions which code...
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...

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Related Experiment Video

Updated: May 29, 2026

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
05:53

Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry

Published on: June 21, 2018

A fast algorithm to optimize SNP prioritization for gene-gene and gene-environment interactions.

Wei Q Deng1, Guillaume Paré

  • 1Population Genomics Program, Department of Clinical Epidemiology and Biostatistics, McMaster University, Hamilton, Ontario, Canada.

Genetic Epidemiology
|September 17, 2011
PubMed
Summary

This study introduces GEWIST, a fast algorithm to optimize SNP selection for detecting gene-environment interactions. GEWIST enhances statistical power by individually prioritizing SNPs based on variance heterogeneity, improving upon conservative methods.

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Last Updated: May 29, 2026

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

Published on: August 21, 2016

Area of Science:

  • Genetics
  • Statistical Genetics
  • Bioinformatics

Background:

  • Detecting gene-environment interactions (GEI) via exhaustive search faces the multiple hypothesis problem.
  • Standard Bonferroni correction for experiment-wise error is overly conservative, reducing statistical power.
  • Prioritizing single nucleotide polymorphisms (SNPs) by quantitative trait variance heterogeneity increases power for GEI detection.

Purpose of the Study:

  • To develop a fast algorithm, Gene Environment Wide Interaction Search Threshold (GEWIST), for optimizing SNP prioritization in genome-wide studies.
  • To individually determine the optimal heterogeneity of variance P-value threshold for each SNP.
  • To increase statistical power for detecting GEI under various scenarios.

Main Methods:

  • Proposed Variance Prioritization (VP) method selects SNPs with significant heterogeneity in variance per genotype.
  • Developed the Gene Environment Wide Interaction Search Threshold (GEWIST) algorithm for rapid, individual SNP prioritization.
  • Integrated analysis of possible interaction effect sizes to optimize prioritization.

Main Results:

  • GEWIST significantly increases power to detect gene-environment interactions across diverse scenarios.
  • The algorithm efficiently identifies optimal prioritization thresholds for individual SNPs.
  • The framework allows for optimized prioritization even when interaction effects are unknown a priori.

Conclusions:

  • GEWIST offers a powerful and efficient approach to address the multiple hypothesis problem in GEI detection.
  • Individual SNP prioritization using GEWIST improves statistical power compared to traditional methods.
  • This method provides a robust framework for enhancing the discovery of gene-environment interactions in large-scale genetic studies.