FIVEx: an interactive eQTL browser across public datasets.

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.