Gene-disease network analysis reveals functional modules in mendelian, complex and environmental diseases

AbstractBACKGROUND: Scientists have been trying to understand the molecular mechanisms of diseases to design preventive and therapeutic strategies for a long time. For some diseases, it has become evident that it is not enough to obtain a catalogue of the disease-related genes but to uncover how disruptions of molecular networks in the cell give rise to disease phenotypes. Moreover, with the unprecedented wealth of information available, even obtaining such catalogue is extremely difficult.PRINCIPAL FINDINGS: We developed a comprehensive gene-disease association database by integrating associations from several sources that cover different biomedical aspects of diseases. In particular, we focus on the current knowledge of human genetic diseases including mendelian, complex and environmental diseases. To assess the concept of modularity of human diseases, we performed a systematic study of the emergent properties of human gene-disease networks by means of network topology and functional annotation analysis. The results indicate a highly shared genetic origin of human diseases and show that for most diseases, including mendelian, complex and environmental diseases, functional modules exist. Moreover, a core set of biological pathways is found to be associated with most human diseases. We obtained similar results when studying clusters of diseases, suggesting that related diseases might arise due to dysfunction of common biological processes in the cell.CONCLUSIONS: For the first time, we include mendelian, complex and environmental diseases in an integrated gene-disease association database and show that the concept of modularity applies for all of them. We furthermore provide a functional analysis of disease-related modules providing important new biological insights, which might not be discovered when considering each of the gene-disease association repositories independently. Hence, we present a suitable framework for the study of how genetic and environmental factors, such as drugs, contribute to diseases.AVAILABILITY: The gene-disease networks used in this study and part of the analysis are available at http://ibi.imim.es/DisGeNET/DisGeNETweb.html#Download

Browsing a component library using Non-functional Information

This paper highlights the role of non-functional information when reusing from a component library. We describe a method for selecting appropriate implementations of Ada packages taking non-functional constraints into account; these constraints model the context of reuse. Constraints take the form of queries using an interface description language called NoFun, which is also used to state non-functional information in Ada packages; query results are trees of implementations, following the import relationships between components. We define two different situations when reusing components, depending whether we take the library being searched as closed or extendible. The resulting tree of implementations can be manipulated by the user to solve ambiguities, to state default behaviours, and by the like. As part of the proposal, we face the problem of computing from code the non-functional information that determines the selection process.

How to redesign a virtual library website: a case study

This abstract presents how we redesigned, with user-centred design methods, the way we organize and present the content on the UOC Virtual Library website. The content is now offered in a way that is more intuitive, usable and easy to understand, based on criteria of customization, transparency and proximity.The techniques used to achieve these objectives included benchmarking, interviews and focus groups during the user requirement capture phase and user tests to assess the process and results.

Provision of supplementary materials in Library and Information Science scholarly journals

Purpose This study seeks to analyse the policies of library and information science (LIS) journals regarding the publication of supplementary materials, the number of journals and articles that include this feature, the kind of supplementary materials published with regard to their function in the article, the formats employed and the access provided to readers. Design/methodology/approach The study analysed the instructions for authors of LIS journals indexed in the ISI Journal Citation Reports, as well as the supplementary materials attached to the articles published in their 2011 online volumes. Findings Large publishers are more likely to have a policy regarding the publication of supplementary materials, and policies are usually homogeneous across all the journals of a given publisher. Most policies state the acceptance of supplementary materials, and even journals without a policy also publish supplementary materials. The majority of supplementary materials provided in LIS articles are extended methodological explanations and additional results in the form of textual information in PDF or Word files. Some toll-access journals provide open access to any reader to these files. Originality/value This study provides new insights into the characteristics of supplementary materials in LIS journals. The results may be used by journal publishers to establish a policy on the publication of supplementary materials and, more broadly, to develop data sharing initiatives in academic settings.

The Library for learning service charter

Presentació de la missió i els serveis per a l'aprenentatge que ofereix la Biblioteca Virtual de la UOC.

Library for Research services

Mission and services offered by the Library for Research.

World Library and Information Congress: 75th IFLA General Conference and Assembly.

L"edició del 2009 de la trobada de l"IFLA s"ha celebrat a Milà. La maquinària de l"organització va funcionar amb precisió per a aquest esdeveniment. Després d"anys de regularitat en les trobades per tot el món, l"IFLA funciona com un autòmat, una d"aquestes màquines perfectes, tant que podria continuar uncionant en les formes amb exemplar artifici. És un trobada singular, que aplega, a la vegada, la reunió de l"organització, un congrés mundial i una fira comercial; tot això amanit amb una ciutat diferent cada any i un finançament que depèn de la bona marxa de tot l"esdeveniment. En certa mesura, l"IFLA és un aparador de la professió, al qual assisteixen bibliotecaris de tot el món i de centenars d"institucions, amb tot el que suposa d"artificiositat en la representació d"entitats i promoció; un espai de reflexió, amb ponències i debats de molt variat interès que poden trobar-se, generalment, en altres esdeveniments; i una posada a punt dels treballs de tots els comitès, que tenen un complex desenvolupament previ i una àrdua tasca desenvolupada amb generositat per tots els participants.

Customization, transparency and proximity: a user- centered content strategy applied to the design of a virtual library website

We present a case study of the redesign of the organizational presentation and content of the Virtual Library website at the Universitat Oberta de Catalunya (Open University of Catalonia, UOC), based on a user-centered design strategy. The aim of the redesign was to provide users with more intuitive, usable and understandable content (textual content, resources and services) by implementing criteria of customization, transparency and proximity. The study also presents a selection of best practices for applying these criteria to the design of other library websites.

How to redesign a virtual library website: a case study

This abstract presents how we redesigned, with user-centred design methods, the way we organize and present the content on the UOC Virtual Library website. The content is now offered in a way that is more intuitive, usable and easy to understand, based on criteria of customization, transparency and proximity.The techniques used to achieve these objectives included benchmarking, interviews and focus groups during the user requirement capture phase and user tests to assess the process and results.

Customization, transparency and proximity: a user- centered content strategy applied to the design of a virtual library website

We present a case study of the redesign of the organizational presentation and content of the Virtual Library website at the Universitat Oberta de Catalunya (Open University of Catalonia, UOC), based on a user-centered design strategy. The aim of the redesign was to provide users with more intuitive, usable and understandable content (textual content, resources and services) by implementing criteria of customization, transparency and proximity. The study also presents a selection of best practices for applying these criteria to the design of other library websites.

Customization, transparency and proximity: a user- centered content strategy applied to the design of a virtual library website

We present a case study of the redesign of the organizational presentation and content of the Virtual Library website at the Universitat Oberta de Catalunya (Open University of Catalonia, UOC), based on a user-centered design strategy. The aim of the redesign was to provide users with more intuitive, usable and understandable content (textual content, resources and services) by implementing criteria of customization, transparency and proximity. The study also presents a selection of best practices for applying these criteria to the design of other library websites.

How to redesign a virtual library website: a case study

This abstract presents how we redesigned, with user-centred design methods, the way we organize and present the content on the UOC Virtual Library website. The content is now offered in a way that is more intuitive, usable and easy to understand, based on criteria of customization, transparency and proximity.The techniques used to achieve these objectives included benchmarking, interviews and focus groups during the user requirement capture phase and user tests to assess the process and results.

Provision of supplementary materials in Library and Information Science scholarly journals

Purpose- This study seeks to analyse the policies of library and information science (LIS) journals regarding the publication of supplementary materials, the number of journals and articles that include this feature, the kind of supplementary materials published with regard to their function in the article, the formats employed and the access provided to readers. Design/methodology/approach- The study analysed the instructions for authors of LIS journals indexed in the ISI Journal Citation Reports, as well as the supplementary materials attached to the articles published in their 2011 online volumes. Findings- Large publishers are more likely to have a policy regarding the publication of supplementary materials, and policies are usually homogeneous across all the journals of a given publisher. Most policies state the acceptance of supplementary materials, and even journals without a policy also publish supplementary materials. The majority of supplementary materials provided in LIS articles are extended methodological explanations and additional results in the form of textual information in PDF or Word files. Some toll-access journals provide open access to any reader to these files. Originality/value- This study provides new insights into the characteristics of supplementary materials in LIS journals. The results may be used by journal publishers to establish a policy on the publication of supplementary materials and, more broadly, to develop data sharing initiatives in academic settings.