Visualization Challenges of Variant Interpretation in Multiscale NGS Data

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Date
2022
Authors
Ståhlbom, Emilia
Molin, Jesper
Lundström, Claes
Ynnerman, Anders
Journal Title
Journal ISSN
Volume Title
Publisher
The Eurographics Association
Abstract
There is currently a movement in health care towards precision medicine, where genomics often is the central diagnostic component for tailoring the treatment to the individual patient. We here present results from a domain characterization effort to pinpoint problems and possibilities for visualization of genomics data in the clinical workflow, with analysis of copy number variants as an example task. Five distinct characteristics have been identified. Clinical genomics data is inherently multiscale, riddled with artifacts and uncertainty, and many findings have unknown significance, so it is a challenging visual analytics domain. Moreover, as in other clinical domains, high efficiency is key. This characterization will form the basis for follow-on visualization prototyping.
Description

CCS Concepts: Human-centered computing --> Information visualization; Visualization design and evaluation methods; Applied computing --> Genomics

        
@inproceedings{
10.2312:evp.20221132
,
booktitle = {
EuroVis 2022 - Posters
},
editor = {
Krone, Michael
 and 
Lenti, Simone
 and 
Schmidt, Johanna
},
title = {{
Visualization Challenges of Variant Interpretation in Multiscale NGS Data
}},
author = {
Ståhlbom, Emilia
 and 
Molin, Jesper
 and 
Lundström, Claes
 and 
Ynnerman, Anders
},
year = {
2022
},
publisher = {
The Eurographics Association
},
ISBN = {
978-3-03868-185-4
},
DOI = {
10.2312/evp.20221132
}
}
Citation
URI
https://doi.org/10.2312/evp.20221132
 https://diglib.eg.org:443/handle/10.2312/evp20221132
Collections
EuroVisPosters2022