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      The Enzyme Portal: a case study in applying user-centred design methods in bioinformatics

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          Abstract

          User-centred design (UCD) is a type of user interface design in which the needs and desires of users are taken into account at each stage of the design process for a service or product; often for software applications and websites. Its goal is to facilitate the design of software that is both useful and easy to use. To achieve this, you must characterise users’ requirements, design suitable interactions to meet their needs, and test your designs using prototypes and real life scenarios.

          For bioinformatics, there is little practical information available regarding how to carry out UCD in practice. To address this we describe a complete, multi-stage UCD process used for creating a new bioinformatics resource for integrating enzyme information, called the Enzyme Portal ( http://www.ebi.ac.uk/enzymeportal). This freely-available service mines and displays data about proteins with enzymatic activity from public repositories via a single search, and includes biochemical reactions, biological pathways, small molecule chemistry, disease information, 3D protein structures and relevant scientific literature.

          We employed several UCD techniques, including: persona development, interviews, ‘canvas sort’ card sorting, user workflows, usability testing and others. Our hope is that this case study will motivate the reader to apply similar UCD approaches to their own software design for bioinformatics. Indeed, we found the benefits included more effective decision-making for design ideas and technologies; enhanced team-working and communication; cost effectiveness; and ultimately a service that more closely meets the needs of our target audience.

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          Modeling sample variables with an Experimental Factor Ontology

          Motivation: Describing biological sample variables with ontologies is complex due to the cross-domain nature of experiments. Ontologies provide annotation solutions; however, for cross-domain investigations, multiple ontologies are needed to represent the data. These are subject to rapid change, are often not interoperable and present complexities that are a barrier to biological resource users. Results: We present the Experimental Factor Ontology, designed to meet cross-domain, application focused use cases for gene expression data. We describe our methodology and open source tools used to create the ontology. These include tools for creating ontology mappings, ontology views, detecting ontology changes and using ontologies in interfaces to enhance querying. The application of reference ontologies to data is a key problem, and this work presents guidelines on how community ontologies can be presented in an application ontology in a data-driven way. Availability: http://www.ebi.ac.uk/efo Contact: malone@ebi.ac.uk Supplementary information: Supplementary data are available at Bioinformatics online.
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            The systemizing quotient: an investigation of adults with Asperger syndrome or high-functioning autism, and normal sex differences.

            Systemizing is the drive to analyse systems or construct systems. A recent model of psychological sex differences suggests that this is a major dimension in which the sexes differ, with males being more drawn to systemize than females. Currently, there are no self-report measures to assess this important dimension. A second major dimension of sex differences is empathizing (the drive to identify mental states and respond to these with an appropriate emotion). Previous studies find females score higher on empathy measures. We report a new self-report questionnaire, the Systemizing Quotient (SQ), for use with adults of normal intelligence. It contains 40 systemizing items and 20 control items. On each systemizing item, a person can score 2, 1 or 0, so the SQ has a maximum score of 80 and a minimum of zero. In Study 1, we measured the SQ of n = 278 adults (114 males, 164 females) from a general population, to test for predicted sex differences (male superiority) in systemizing. All subjects were also given the Empathy Quotient (EQ) to test if previous reports of female superiority would be replicated. In Study 2 we employed the SQ and the EQ with n = 47 adults (33 males, 14 females) with Asperger syndrome (AS) or high-functioning autism (HFA), who are predicted to be either normal or superior at systemizing, but impaired at empathizing. Their scores were compared with n = 47 matched adults from the general population in Study 1. In Study 1, as predicted, normal adult males scored significantly higher than females on the SQ and significantly lower on the EQ. In Study 2, again as predicted, adults with AS/HFA scored significantly higher on the SQ than matched controls, and significantly lower on the EQ than matched controls. The SQ reveals both a sex difference in systemizing in the general population and an unusually strong drive to systemize in AS/HFA. These results are discussed in relation to two linked theories: the 'empathizing-systemizing' (E-S) theory of sex differences and the extreme male brain (EMB) theory of autism.
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              Regulated functional alternative splicing in Drosophila

              Alternative splicing expands the coding capacity of metazoan genes, and it was largely genetic studies in the fruit-fly Drosophila melanogaster that established the principle that regulated alternative splicing results in tissue- and stage-specific protein isoforms with different functions in development. Alternative splicing is particularly prominent in germ cells, muscle and the central nervous system where it modulates the expression of various proteins including cell-surface molecules and transcription factors. Studies in flies have given us numerous insights into alternative splicing in terms of upstream regulation, the exquisite diversity of their forms and the key differential cellular functions of alternatively spliced gene products. The current inundation of transcriptome sequencing data from Drosophila provides an unprecedented opportunity to gain a comprehensive view of alternative splicing.
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                Author and article information

                Contributors
                Journal
                BMC Bioinformatics
                BMC Bioinformatics
                BMC Bioinformatics
                BioMed Central
                1471-2105
                2013
                20 March 2013
                : 14
                : 103
                Affiliations
                [1 ]EMBL-EBI, Wellcome Trust Genome Campus, Hinxton, Cambridge, CB10 1SD, UK
                [2 ]European Commission, European Research Council Executive Agency, (Formally of EMBL-EBI), Brussels, Belgium
                Article
                1471-2105-14-103
                10.1186/1471-2105-14-103
                3623738
                23514033
                21764fe7-31c7-4914-ba8b-0dfb5cc46b06
                Copyright © 2013 de Matos et al.; licensee BioMed Central Ltd.

                This is an Open Access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.

                History
                : 22 June 2012
                : 8 February 2013
                Categories
                Correspondence

                Bioinformatics & Computational biology
                3d protein structure,biological pathways,card sorting,design,enzyme,enzyme portal,implementation,personae,prototyping,user-centered design (usa spelling),user-centred design,user experience,user profiles,user requirements,usability testing

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