A bioinformatics toolbox to prioritize causal genetic variants in candidate regions

Šimon, M, Čater, M, Kunej, T, Morton, NM ORCID: https://orcid.org/0000-0001-8218-8462 and Horvat, S, 2025. A bioinformatics toolbox to prioritize causal genetic variants in candidate regions. Trends in Genetics, 41 (1), pp. 33-46. ISSN 0168-9525

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Abstract

This review addresses the significant challenge of identifying causal genetic variants within quantitative trait loci (QTLs) for complex traits and diseases. Despite progress in detecting the ever-larger number of such loci, establishing causality remains daunting. We advocate for integrating bioinformatics and multiomics analyses to streamline the prioritization of candidate genes' variants. Our case study on the Pla2g4e gene, identified previously as a positional candidate obesity gene through genetic mapping and expression studies, demonstrates how applying multiomic data filtered through regulatory elements containing SNPs can refine the search for causative variants. This approach can yield results that guide more efficient experimental strategies, accelerating genetic research toward functional validation and therapeutic development.

Item Type:	Journal article
Publication Title:	Trends in Genetics
Creators:	Šimon, M., Čater, M., Kunej, T., Morton, N.M. and Horvat, S.
Publisher:	Elsevier
Date:	January 2025
Volume:	41
Number:	1
ISSN:	0168-9525
Identifiers:	Number Type 10.1016/j.tig.2024.09.007 DOI S0168952524002154 Publisher Item Identifier 2458061 Other
Rights:	Creative Commons Attribution (CC BY 4.0) (https://creativecommons.org/licenses/by/4.0/).
Divisions:	Schools > School of Science and Technology
Record created by:	Jonathan Gallacher
Date Added:	23 Jul 2025 09:01
Last Modified:	23 Jul 2025 09:02
URI:	https://irep.ntu.ac.uk/id/eprint/53991

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