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bioRxiv · 10.1101/2020.01.02.891291

LocusFocus: A web-based colocalization tool for the annotation and functional follow-up of GWAS

Panjwani, N.·Wang, F.·Wang, C.·He, G.·Mastromatteo, S.·Bao, A.·Gong, J.·Rommens, J. M.·Sun, L.·Strug, L. J.
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Abstract

Genome-wide association studies (GWAS) have primarily identified trait-associated loci in the non-coding genome. Colocalization analyses of SNP-level associations from GWAS with expression quantitative trait loci (eQTL) evidence enable the generation of hypotheses about responsible mechanism, genes and tissues of origin to guide functional characterization. Here, we present a web-based colocalization browsing and testing tool named LocusFocus (https://locusfocus.research.sickkids.ca). LocusFocus formally tests colocalization using our established Simple Sum method to identify the most relevant genes and tissues for a particular GWAS locus in the presence of high linkage disequilibrium and/or allelic heterogeneity. Full documentation and source code for LocusFocus are publicly available.

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Panjwani, N., Wang, F., Wang, C., He, G., Mastromatteo, S., Bao, A., Gong, J., Rommens, J. M., Sun, L., Strug, L. J.. 2020-01-02. LocusFocus: A web-based colocalization tool for the annotation and functional follow-up of GWAS. https://doi.org/10.1101/2020.01.02.891291

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