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Related Concept Videos

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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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.
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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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Next-generation sequencing technologies have created large genomic databases of a variety of animals and plants. Ever since the human genome project was completed, scientists studied the genome of primates, mammals, and other phylogenetically distant living beings. Such large-scale  studies have provided new insights into the evolutionary relationship between organisms.
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ELSSI: parallel SNP-SNP interactions detection by ensemble multi-type detectors.

Xin Wang1,2, Xia Cao3, Yuantao Feng3

  • 1School of Software, Shandong University, Jinan 250101, China.

Briefings in Bioinformatics
|June 13, 2022
PubMed
Summary
This summary is machine-generated.

Ensemble learning-based single nucleotide polymorphism (SNP)-SNP interactions (SSIs) detection, termed ELSSI, effectively identifies complex disease associations. This approach overcomes limitations of individual detectors for scalable, accurate genome-wide analysis.

Keywords:
SNP–SNP interactionsbiasdivide and conquerensemble learningmulti-type detectors

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Area of Science:

  • Genetics and Bioinformatics
  • Computational Biology
  • Disease Susceptibility Research

Background:

  • High-throughput genotyping enables single nucleotide polymorphism (SNP)-SNP interactions (SSIs) detection for understanding disease susceptibility.
  • Existing SSI detection methods struggle with scalability and bias on complex, genome-wide datasets due to reliance on individual detectors.

Purpose of the Study:

  • To develop a novel ensemble learning-based approach (ELSSI) for scalable and accurate detection of single nucleotide polymorphism (SNP)-SNP interactions (SSIs).
  • To reduce the bias and computational load associated with individual SSI detection methods.
  • To enable the detection of high-order SSIs from large genome-wide datasets.

Main Methods:

  • ELSSI employs an ensemble learning strategy, randomly dividing SNPs into subsets for parallel evaluation by multiple detectors.
  • A four-stage pipeline (generate, score, switch, filter) iteratively refines SNP combinations for scoring and re-scoring across detectors.
  • The method is designed for scalability to large genome-wide datasets and flexibility in incorporating new detectors.

Main Results:

  • ELSSI demonstrated superior efficacy compared to state-of-the-art methods in detecting SSIs across simulated and real genome-wide datasets.
  • The approach showed particular strength in identifying high-order SSIs.
  • ELSSI is computationally efficient, runnable on moderate PCs, and accessible online.

Conclusions:

  • The proposed ELSSI method offers a robust and scalable solution for detecting single nucleotide polymorphism (SNP)-SNP interactions (SSIs), crucial for disease susceptibility studies.
  • ELSSI effectively mitigates bias and computational challenges inherent in single-detector approaches.
  • The accessibility and flexibility of ELSSI facilitate its application in genome-wide association studies.