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Related Concept Videos

Genome-wide Association Studies-GWAS01:11

Genome-wide Association Studies-GWAS

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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.
GWAS does not require the identification of the target gene involved in...
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The Hidradenitis Suppurativa 'Omics Database (HS-OmicsDB).

Peter Dimitrion, Ian Loveless, Li Zhou

    Biorxiv : the Preprint Server for Biology
    |February 7, 2023
    PubMed
    Summary

    This study aggregates publicly available omics data for Hidradenitis Suppurativa (HS), an inflammatory skin disease. The initiative provides a valuable resource for profiling gene expression and cell-specific data in HS research.

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    Area of Science:

    • Genomics and genetics
    • Immunology
    • Dermatology

    Background:

    • Hidradenitis Suppurativa (HS) is an inflammatory skin disease with unknown etiology.
    • Large-scale omics meta-analyses have significantly advanced research in fields like cancer and immunology.
    • No comprehensive omics data aggregation initiative currently exists for HS.

    Approach:

    • This study presents a longitudinal initiative to aggregate publicly available omics data for HS research.
    • The first iteration includes bulk and single-cell RNA sequencing data from untreated HS patients.
    • Data is sourced from publicly available Gene Expression Omnibus (GEO) datasets.

    Key Points:

    • The aggregated data enables profiling of gene expression across various tissue types (lesional, perilesional, nonlesional, and healthy skin).
    • The dataset facilitates mapping of cell-specific gene expression within HS lesions using single-cell data.
    • This resource serves as a hypothesis-generating and validation tool for HS research.

    Conclusions:

    • This initiative establishes a foundational resource for advancing Hidradenitis Suppurativa research through omics data integration.
    • The aggregated dataset will empower researchers to explore gene expression patterns and cellular mechanisms in HS.
    • Future iterations will expand the scope of omics data to further elucidate HS pathogenesis.