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flashfmZoom: a tool for joint fine-mapping and exploration of GWAS results in the UK Biobank

Zhou, F.; Starr, C.; Butterworth, A. S.; Asimit, J. L.

2023-03-24 genetics
10.1101/2023.03.21.533700 bioRxiv
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SummaryflashfmZoom is an all-in-one tool for analysis and interactive visualisation of potential causal genetic variants that underlie associations with quantitative traits from the UK Biobank. It offers a user-friendly interface and guides users in the selection of pleiotropic regions among subsets of 134 quantitative traits, such as cardiometabolic, hematologic, and respiratory traits. Users may then run single-trait fine-mapping, allowing for multiple causal variants, and leverage information between the traits using multi-trait fine-mapping to improve resolution. A series of interactive plots and downloadable tables are generated within flashfmZoom to identify potential causal variants that are shared or distinct between the traits; it also lists relevant literature for the traits and/or variants. Besides exploring traits that are well-known to be related, flashfmZoom encourages interactive exploration for the joint analysis of traits that may not often be considered together. This may reveal common aetiological pathways between traits related to different disorders. Availability and ImplementationflashfmZoom is an interactive open-source R shiny app software available online directly at https://mrc-bsu.shinyapps.io/flashfmZoomOnline/, with source code in GitHub under the MIT license https://github.com/fz-cambridge/flashfmZoom and at https://doi.org/10.5281/zenodo.7756205. Contactfeng.zhou@mrc-bsu.cam.ac.uk or jennifer.asimit@mrc-bsu.cam.ac.uk

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