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Genome-wide Association Studies-GWAS01:11

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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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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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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.
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Related Experiment Video

Updated: Apr 4, 2026

Mapping Bacterial Functional Networks and Pathways in Escherichia Coli using Synthetic Genetic Arrays
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Determining Semantically Related Significant Genes.

Kamal Taha

    IEEE/ACM Transactions on Computational Biology and Bioinformatics
    |September 11, 2015
    PubMed
    Summary

    This study introduces RSGSearch, a novel biological search engine. It leverages Gene Ontology (GO) existence dependency to improve gene set enrichment analysis by considering structural relationships.

    Area of Science:

    • Bioinformatics
    • Computational Biology
    • Genomics

    Background:

    • Gene Ontology (GO) relations include existence dependency, where GO term y presence implies GO term x presence.
    • Existing gene set enrichment analysis methods often ignore GO term structural dependencies and existence dependency.
    • GO term specificity influences existence dependency, with terms of equal specificity not being existence-dependent.

    Purpose of the Study:

    • To propose RSGSearch, a biological search engine for identifying enriched gene sets.
    • To incorporate the concept of GO term existence dependency into gene set enrichment analysis.
    • To improve the identification of functionally and semantically related genes.

    Main Methods:

    • Developed RSGSearch, a biological search engine utilizing GO existence dependency.

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  • Encoded GO term contributions to lowest common ancestors (LCAs) into a numeric format.
  • Employed microarray data to identify significant LCAs annotating gene sets.
  • Main Results:

    • RSGSearch effectively identifies enriched gene sets by considering existence dependency.
    • The method demonstrated marked improvement compared to five existing gene set enrichment systems.
    • RSGSearch successfully leverages structural dependencies within the GO graph.

    Conclusions:

    • RSGSearch offers a significant advancement in gene set enrichment analysis by incorporating existence dependency.
    • The engine provides a more accurate and sensitive approach to identifying functionally related genes.
    • Considering structural relationships in GO enhances the biological interpretation of gene sets.