PanVA : Pangenomic Variant Analysis
Genomics researchers increasingly use multiple reference genomes to comprehensively explore genetic variants underlying differences in detectable characteristics between organisms. Pangenomes allow for an efficient data representation of multiple related genomes and their associated metadata. Howeve...
| Veröffentlicht in: | IEEE transactions on visualization and computer graphics. - 1996. - 30(2024), 8 vom: 01. Juli, Seite 4895-4909 |
|---|---|
| 1. Verfasser: | |
| Weitere Verfasser: | , , , , |
| Format: | Online-Aufsatz |
| Sprache: | English |
| Veröffentlicht: |
2024
|
| Zugriff auf das übergeordnete Werk: | IEEE transactions on visualization and computer graphics |
| Schlagworte: | Journal Article |
| Zusammenfassung: | Genomics researchers increasingly use multiple reference genomes to comprehensively explore genetic variants underlying differences in detectable characteristics between organisms. Pangenomes allow for an efficient data representation of multiple related genomes and their associated metadata. However, current visual analysis approaches for exploring these complex genotype-phenotype relationships are often based on single reference approaches or lack adequate support for interpreting the variants in the genomic context with heterogeneous (meta)data. This design study introduces PanVA, a visual analytics design for pangenomic variant analysis developed with the active participation of genomics researchers. The design uniquely combines tailored visual representations with interactions such as sorting, grouping, and aggregation, allowing users to navigate and explore different perspectives on complex genotype-phenotype relations. Through evaluation in the context of plants and pathogen research, we show that PanVA helps researchers explore variants in genes and generate hypotheses about their role in phenotypic variation |
|---|---|
| Beschreibung: | Date Completed 01.07.2024 Date Revised 01.07.2024 published: Print-Electronic Citation Status MEDLINE |
| ISSN: | 1941-0506 |
| DOI: | 10.1109/TVCG.2023.3282364 |