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Evaluating the VIPER pedigree visualisation: detecting inheritance inconsistencies in genotyped pedigrees.

Paterson, Trevor, Graham, Martin, Kennedy, Jessie and Law, Andy (2011) Evaluating the VIPER pedigree visualisation: detecting inheritance inconsistencies in genotyped pedigrees. In: 2011 IEEE Symposium on Biological Data Visualization (BioVis). IEEE Computer Society Press, Providence, RI, USA, pp. 119-126. ISBN 978-1-4673-0003-2

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    Abstract/Description

    VIPER (Visual Pedigree Explorer) is a tool for exploring large complex animal pedigrees and their associated genotype data. The tool combines a novel, space-efficient visualisation of the pedigree structure with an inheritance-checking algorithm. This allows users to explore the apparent errors within the genotype data in the full context of the family and pedigree structure. Ultimately, the aim is to develop an interactive software application that will allow users to identify, confirm and then remove errors from the pedigree structure and scored genotypes. This paper describes an evaluation of how VIPER displays the different scales and types of data set that can occur, along with a description of the further interface functionality necessary to meet the challenges such data presents. This is followed by an examination of a range of possible pedigree genotype errors by replicating these errors in controlled simulated data sets and showing how they are manifested in the VIPER interface and observed by a domain expert. The data sets used include both real and artificially generated data, the advantage of the latter being that they produce known effects in the visualization which the domain expert can then interpret as being useful or unhelpful as they see fit.

    Item Type: Book Section
    ISBN: 978-1-4673-0003-2
    Additional Information: Paper presented at IEEE Symposium on Biological Data Visualization, Providence, RI, USA Oct 23-24 2011 “© 2011 IEEE. Personal use of this material is permitted. Permission from IEEE must be obtained for all other uses, in any current or future media, including reprinting/republishing this material for advertising or promotional purposes, creating new collective works, for resale or redistribution to servers or lists, or reuse of any copyrighted component of this work in other works.”
    Uncontrolled Keywords: Pedigree visualisation; error visualisation; Interface design; utility evaluation;
    University Divisions/Research Centres: Edinburgh Napier University, Institute for Informatics and Digital Innovation
    Dewey Decimal Subjects: 000 Computer science, information & general works > 000 Computer science, knowledge & systems > 004 Data processing & computer science
    Library of Congress Subjects: Q Science > QA Mathematics > QA75 Electronic computers. Computer science
    Item ID: 4714
    Depositing User: Computing Research
    Date Deposited: 02 Nov 2011 16:25
    Last Modified: 22 Oct 2013 15:17
    URI: http://researchrepository.napier.ac.uk/id/eprint/4714

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