19 research outputs found

    A Lens for Evaluating Genetic Information Governance Models:Balancing Equity, Efficiency and Sustainability

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    This paper draws from the literature on collective action and the governance of the commons to address the governance of genetic data on variants of specific genes. Specifically, the data arrangements under study relate to the BRCA genes (BRCA1 and BRCA2) which are linked to breast and ovarian cancer. These data are stored in global genetic data repositories and accessed by researchers and clinicians, from both public and private institutions. The current BRCA data arrangements are fragmented and politicized as there are multiple tensions around data ownership and sharing. Three key principles are proposed for forming and evaluating data governance arrangements in the field. These principles are: equity, efficiency and sustainability

    Predicting non-coding RNA genes in Escherichia coli with boosted genetic programming

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    Several methods exist for predicting non-coding RNA (ncRNA) genes in Escherichia coli (E.coli). In addition to about sixty known ncRNA genes excluding tRNAs and rRNAs, various methods have predicted more than thousand ncRNA genes, but only 95 of these candidates were confirmed by more than one study. Here, we introduce a new method that uses automatic discovery of sequence patterns to predict ncRNA genes. The method predicts 135 novel candidates. In addition, the method predicts 152 genes that overlap with predictions in the literature. We test sixteen predictions experimentally, and show that twelve of these are actual ncRNA transcripts. Six of the twelve verified candidates were novel predictions. The relatively high confirmation rate indicates that many of the untested novel predictions are also ncRNAs, and we therefore speculate that E.coli contains more ncRNA genes than previously estimated

    Developing a genetic analysis system for clinical purposes

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    ITS reference architecture for traffic information in private transport

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    Die IVS-Referenzarchitektur für Verkehrsinformation im Individualverkehr konkretisiert das Rahmenwerk für Architekturen intelligenter Mobilitätsdienste (RAIM) für die IVS-Dienstekategorie Verkehrsinformation im Individualverkehr. Gegenstand der IVS-Referenzarchitektur für Verkehrsinformation im Individualverkehr sind alle auf Straßenverkehrsteilnehmer unmittelbar wirkenden On-Trip-Verkehrsinformationen, unabhängig vom Kommunikationsmedium. Dies umfasst z. B. über Funkkommunikation (Rundfunk, WLAN, Mobilfunk, etc.) in Endgeräte der Verkehrsteilnehmer übertragene Informationen inkl. C2X sowie Informationen auf dynamischer Beschilderung. Zur Erarbeitung der IVS-Referenzarchitektur wird das IVS-Architektur-Vorgehensmodell des Rahmenwerks für IVS-Architektur in Deutschland – basierend auf dem TOGAF (The Open Group Architecture Framework) -Vorgehensmodell – angewendet. Folgende Phasen werden dabei durchlaufen: 1) Vorbereitungsphase 2) Phase A: Architekturvision 3) Phase B: Geschäftsarchitektur 4) Phase C: Informationssystemarchitektur bestehend aus Datenarchitektur und Anwendungsarchitektur In der Vorbereitungsphase wird die Einbindung zugrundeliegender Modelle geklärt, Modellanpassungen definiert sowie wichtige Prinzipien für die Architekturentwicklung festgelegt. In Phase A werden die Ziele der Architekturentwicklung und die daran Beteiligten festgelegt. Die Ergebnisse der Phasen B und C stellen die eigentliche IVS-Architektur dar. In Phase B werden der aktuelle und der gewünschte Zustand der Geschäftsarchitektur beschrieben. Dafür werden die Unterschiede herausgearbeitet und unter anderem mit Hilfe von Geschäftsprozessdiagrammen dokumentiert. In Phase C werden der aktuelle sowie der gewünschte Zustand der Daten- und Anwendungsarchitektur beschrieben. Jede Phase ist wiederum in mehrere Schritte unterteilt. Damit wird ein methodisches und umfassendes Vorgehen bei der Entwicklung einer IVS-Architektur sichergestellt.The ITS reference architecture for traffic information in private transport concretizes the ITS architecture framework (RAIM) for the ITS service category traffic information in private transport. The subject of the ITS reference architecture for traffic information in private transport is all on-trip traffic information directly affecting road users, independent of the communication medium. This includes, for example, information transmitted via radio communication (broadcast radio, WLAN, mobile radio, etc.) to the end devices of road users, including C2X, as well as information on dynamic signage. The ITS architecture procedure model – based on the TOGAF (The Open Group Architecture Framework) architecture development method – is used for the development of the ITS reference architecture according to the ITS architecture framework Germany. The following phases are taken: 1) Preliminary Phase 2) Phase A: Architecture Vision 3) Phase B: Business Architecture 4) Phase C: Information System Architecture consisting of Data Architecture and Application Architecture In the Preliminary Phase, the integration of underlying models is clarified and model adaptations and important principles for architectural development are defined. In phase A, the objectives of the architectural development are determined. The results of phases B and C represent the core ITS architecture. Phase B describes the current and desired state of the Business Architecture. The differences are worked out and documented, among other things, with the help of business process diagrams. Phase C describes the current and desired state of the Data and Application Architecture. Each phase is divided into several steps. This ensures a methodological and comprehensive approach in the development of an ITS architecture
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