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Visualising errors in animal pedigree genotype data

Graham, Martin; Kennedy, Jessie; Paterson, Trevor; Law, Andy


Martin Graham

Trevor Paterson

Andy Law


Genetic analysis of a breeding animal population involves determining the inheritance pattern of genotypes for multiple genetic markers across the individuals in the population pedigree structure. However, experimental pedigree genotype data invariably contains errors in both the pedigree structure and in the associated individual genotypes, which introduce inconsistencies into the dataset, rendering them useless for further analysis. The resolution of these errors requires consideration of the genotype inheritance patterns in the context of the pedigree structure. Existing visualisations of pedigree structures are typically more suited to human pedigrees and are less suitable for large complex animal pedigrees which may exhibit cross generational inbreeding. Similarly, current table-based viewers of genotype marker information can highlight where errors become apparent but lack the functionality and interactive visual feedback to enable users to locate the underlying source of errors within the pedigree. In this paper, we detail a design study steered by biologists who work with pedigree data, and describe successive iterations through approaches and prototypes for viewing genotyping errors in the context of a displayed pedigree. We describe how each approach performs with real pedigree genotype data and why eventually we deemed them unsuitable. Finally, a novel prototype visualisation for pedigrees, which we term the ‘sandwich view’, is detailed and we demonstrate how the approach effectively communicates errors in the pedigree context, supporting the biologist in the error identification task.


Graham, M., Kennedy, J., Paterson, T., & Law, A. (2011). Visualising errors in animal pedigree genotype data. Computer Graphics Forum, 30, 1011-1020.

Journal Article Type Article
Publication Date 2011
Deposit Date Jun 27, 2011
Publicly Available Date Dec 31, 2011
Print ISSN 0167-7055
Electronic ISSN 1467-8659
Publisher Wiley
Peer Reviewed Peer Reviewed
Volume 30
Pages 1011-1020
Keywords Information visualisation; pedigree; genetic analysis; inheritance pattern; genotype; errors; "sandwich view";
Public URL
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