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Related Experiment Video

Updated: Jun 25, 2025

Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
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Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq

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Efficient and accurate mixed model association tool for single-cell eQTL analysis.

Wei Zhou, Anna S E Cuomo, Angli Xue

    Medrxiv : the Preprint Server for Health Sciences
    |May 27, 2024
    PubMed
    Summary
    This summary is machine-generated.

    SAIGE-QTL is a new tool for mapping expression quantitative trait loci (eQTLs) in single cells. It offers a scalable solution for analyzing genetic regulation at a granular level, including rare variants.

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    Last Updated: Jun 25, 2025

    Multiplexed Analysis of Retinal Gene Expression and Chromatin Accessibility Using scRNA-Seq and scATAC-Seq
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    Area of Science:

    • Genomics
    • Molecular Biology
    • Bioinformatics

    Background:

    • Gene expression underlies human traits and diseases.
    • Expression quantitative trait locus (eQTL) mapping reveals genetic regulation of gene expression.
    • eQTLs are cell-type specific, necessitating single-cell resolution.

    Conclusions:

    • SAIGE-QTL provides a robust and scalable solution for single-cell eQTL analysis.
    • Advances the granular understanding of genetic regulation in human traits and diseases.
    • Facilitates the study of rare genetic variants' impact on gene expression.