Visualization Challenges of Variant Interpretation in Multiscale NGS Data
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Date
2022
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}
}