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FIVEx: an interactive eQTL browser across public datasets.

Alan Kwong¹, Andrew P Boughton¹, Mukai Wang¹

¹Department of Biostatistics, The Center for Statistical Genetics, University of Michigan, Ann Arbor, MI 48109, USA.

Bioinformatics (Oxford, England)

|August 30, 2021

Summary

This summary is machine-generated.

We developed FIVEx, an interactive browser for visualizing expression quantitative trait loci (eQTLs) and splice quantitative trait loci (sQTLs). This tool aids in understanding genetic variation

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Area of Science:

Genomics and Bioinformatics
Systems Biology
Statistical Genetics

Background:

Expression quantitative trait loci (eQTLs) and splice quantitative trait loci (sQTLs) link genetic variation to gene expression, crucial for understanding tissue-specific gene regulation.
Visualizing multi-dimensional eQTL/sQTL data is challenging, hindering the functional interpretation of trait-associated genetic variants.
Existing tools may not be optimized for detailed functional interpretation of variants within large transcriptomic datasets.

Purpose of the Study:

To develop FIVEx, an interactive browser for intuitive visualization and functional interpretation of eQTLs and sQTLs.
To facilitate seamless navigation between different data views, providing tissue- and locus-specific information for multi-tissue transcriptomic profiles.
To enhance understanding of population-scale transcriptomic data and its relevance to disease-related traits.

Main Methods:

Development of FIVEx, an interactive browser with an intuitive interface.
Integration of eQTL and sQTL data from multiple sources, including the EBI eQTL catalogue.
Implementation of features for navigating multi-dimensional data and presenting tissue- and locus-specific information.

Main Results:

FIVEx provides an intuitive interface for exploring eQTL and sQTL data.
The browser enables seamless navigation across different data views and provides relevant contextual information.
The FIVEx implementation on the EBI eQTL catalogue offers insights into tissue-specific regulatory mechanisms.

Conclusions:

FIVEx is an effective tool for the functional interpretation of genetic variants associated with gene expression.
Interactive visualization of eQTLs and sQTLs aids in understanding complex regulatory mechanisms.
The tool supports the exploration of population-scale transcriptomic data for biological discovery.