Expanding the eQTL Catalogue: new single-cell datasets and improved interpretation of splicing QTLs

Alasoo, Kaur
Added: Apr 23, 2025
B110 B220 P170 computer science genetics

Abstract

In this project, we will first develop standardised workflows for eQTL analysis from single-cell RNA-seq data and apply these workflows to at least 6 single-cell eQTL datasets generated within Open Targets and outside. This ensures that single-cell eQTL summary statistics can be accessed using the familiar file formats and interfaces of the eQTL Catalogue. It will also streamline the integration of single-cell eQTL datasets with the Open Targets Genetics Portal. Secondly, we will re-process all existing bulk RNA-seq datasets present in the eQTL Catalogue to generate more interpretable splicing QTL summary statistics together with improved visualisations. Integration of these visualisations into the Open Targets Genetics Portal will facilitate the use of splicing QTLs for target discovery.

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