Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies

Fe Simeoni; Nicola Cerioli; Mark Daly; Mary Pat Reeve; Rupesh Vyas; Masood Masoodian

doi:10.1007/978-3-031-61698-3_14

Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies

Fe Simeoni^*, Nicola Cerioli, Mark Daly, Mary Pat Reeve, Rupesh Vyas, Masood Masoodian

^*Corresponding author for this work

Department of Art and Media

University of Helsinki

Research output: Chapter in Book/Report/Conference proceeding › Conference article in proceedings › Scientific › peer-review

Abstract

Making comparisons between genome-wide association studies is a crucial practice in genetics. Despite this, conventional visualizations used in these studies tend to suffer from readability issues. These issues include, for instance, overcrowded data points and difficulties in supporting comparisons between different distributions. One of the most commonly used visualizations for this purpose, the traditional Manhattan plot, is visually optimized for comparing peaks only within one distribution of data points. In genetics research, however, there is often a need to compare multiple distributions. In this paper, we present a novel interaction model that relies on the use of zoomable heatmaps. This interaction model aims to support users in preliminary and straightforward cross-distribution comparisons through semantic zooming, heatmaps, and the overview+detail approach. All these interaction methods have their origin in map-based user interfaces and visualizations.

Original language	English
Title of host publication	Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers
Editors	Anna Bramwell-Dicks, Abigail Evans, Helen Petrie, Marco Winckler, José Abdelnour-Nocera
Publisher	Springer
Pages	147-162
Number of pages	16
ISBN (Print)	9783031616976
DOIs	https://doi.org/10.1007/978-3-031-61698-3_14
Publication status	Published - 2024
MoE publication type	A4 Conference publication
Event	IFIP TC13 International Conference on Human-Computer Interaction - York, United Kingdom Duration: 28 Aug 2023 → 1 Sept 2023 Conference number: 19 https://ifip-tc13.org/

Publication series

Name	Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)
Volume	14536 LNCS
ISSN (Print)	0302-9743
ISSN (Electronic)	1611-3349

Conference

Conference	IFIP TC13 International Conference on Human-Computer Interaction
Abbreviated title	INTERACT
Country/Territory	United Kingdom
City	York
Period	28/08/2023 → 01/09/2023
Internet address	https://ifip-tc13.org/

Keywords

genome-wide association studies
heatmaps
Manhattan plot
overview+detail
Semantic zooming
Zoomable heatmaps

Access to Document

10.1007/978-3-031-61698-3_14

Cite this

Simeoni, F., Cerioli, N., Daly, M., Reeve, M. P., Vyas, R., & Masoodian, M. (2024). Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies. In A. Bramwell-Dicks, A. Evans, H. Petrie, M. Winckler, & J. Abdelnour-Nocera (Eds.), Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers (pp. 147-162). (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 14536 LNCS). Springer. https://doi.org/10.1007/978-3-031-61698-3_14

Simeoni, Fe ; Cerioli, Nicola ; Daly, Mark et al. / Zoomable Heatmaps : Improving Manhattan Plots to Compare Multiple Genome-Wide Studies. Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers. editor / Anna Bramwell-Dicks ; Abigail Evans ; Helen Petrie ; Marco Winckler ; José Abdelnour-Nocera. Springer, 2024. pp. 147-162 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)).

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Simeoni, F, Cerioli, N, Daly, M, Reeve, MP, Vyas, R & Masoodian, M 2024, Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies. in A Bramwell-Dicks, A Evans, H Petrie, M Winckler & J Abdelnour-Nocera (eds), Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers. Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics), vol. 14536 LNCS, Springer, pp. 147-162, IFIP TC13 International Conference on Human-Computer Interaction, York, United Kingdom, 28/08/2023. https://doi.org/10.1007/978-3-031-61698-3_14

Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies. / Simeoni, Fe; Cerioli, Nicola; Daly, Mark et al.
Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers. ed. / Anna Bramwell-Dicks; Abigail Evans; Helen Petrie; Marco Winckler; José Abdelnour-Nocera. Springer, 2024. p. 147-162 (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics); Vol. 14536 LNCS).

Research output: Chapter in Book/Report/Conference proceeding › Conference article in proceedings › Scientific › peer-review

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AU - Vyas, Rupesh

AU - Masoodian, Masood

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Simeoni F, Cerioli N, Daly M, Reeve MP, Vyas R , Masoodian M. Zoomable Heatmaps: Improving Manhattan Plots to Compare Multiple Genome-Wide Studies. In Bramwell-Dicks A, Evans A, Petrie H, Winckler M, Abdelnour-Nocera J, editors, Design for Equality and Justice - INTERACT 2023 IFIP TC 13 Workshops, 2023, Revised Selected Papers. Springer. 2024. p. 147-162. (Lecture Notes in Computer Science (including subseries Lecture Notes in Artificial Intelligence and Lecture Notes in Bioinformatics)). doi: 10.1007/978-3-031-61698-3_14