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- Small, K. S., et al.
(author)
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Identification of an imprinted master trans regulator at the KLF14 locus related to multiple metabolic phenotypes
- 2011
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In: Nat Genet. ; 43:6, s. 561-4
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Journal article (peer-reviewed)abstract
- Genome-wide association studies have identified many genetic variants associated with complex traits. However, at only a minority of loci have the molecular mechanisms mediating these associations been characterized. In parallel, whereas cis regulatory patterns of gene expression have been extensively explored, the identification of trans regulatory effects in humans has attracted less attention. Here we show that the type 2 diabetes and high-density lipoprotein cholesterol-associated cis-acting expression quantitative trait locus (eQTL) of the maternally expressed transcription factor KLF14 acts as a master trans regulator of adipose gene expression. Expression levels of genes regulated by this trans-eQTL are highly correlated with concurrently measured metabolic traits, and a subset of the trans-regulated genes harbor variants directly associated with metabolic phenotypes. This trans-eQTL network provides a mechanistic understanding of the effect of the KLF14 locus on metabolic disease risk and offers a potential model for other complex traits.
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- Ahmadi Achachlouei, Mohammad, et al.
(author)
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Developing life-cycle phases for the DoDAF using ISO15704 Annex A (GERAM)
- 2011
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In: Computers in industry (Print). - : Elsevier BV. - 0166-3615 .- 1872-6194. ; 62:3, s. 253-259
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Journal article (peer-reviewed)abstract
- This paper presents a development of the US Department of Defense Architecture Framework (DoDAF) based on life-cycle concept of the Generalized Enterprise Reference Architecture and Methodology (GERAM) framework/ISO 15704:2000 requirements. Previous research has identified areas of concern within DoDAF by analyzing and evaluating DoDAF against GERAM and potentially assisting in its future development. This paper aims to extend existing architecture description process and artifacts within DoDAF that match the scope of the GERAM life-cycle phases. For this development we use life-cycle aspect of three well-known reference architectures (including PERA, CIMOSA, and GRAI-GIM) that were the basis in formation of GERAM.
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- Garmabaki, Amir Soleimani, et al.
(author)
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Predicting software reliability in a fuzzy field environment
- 2013
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In: International Journal of Reliability, Quality and Safety Engineering (IJRQSE). - 0218-5393. ; 20:3
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Journal article (peer-reviewed)abstract
- The testing-development phase has been carried out in a given control environment. However, the product will be used in different operating environment by different end-users, which is unknown to the developer. The operating environment may range from a very clean one up to a harsh environment. These uncertain operating environments will impact to the reliability and performance of the software which may differ from the testing phase reliability. We consider that the effect of environment on reliability has a fuzzy nature. The fuzzy effects of the field environments can be captured by a unit-free environmental factor. To overcome this problem, the fuzzy probabilistic theory may be used in the processing of stochastic parameters, taking into account their fuzzy nature. The proposed model is based on Weibull distribution. The aim of this paper is to introduce a fuzzy field environment (FFE) reliability model that covers both the testing and operating phases in the development cycle. Illustration examples of the proposed model have been validated on data collected from two industries. © 2013 World Scientific Publishing Company.
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- Garmabaki, Amir Soleimani, et al.
(author)
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Predicting software reliability in a fuzzy-random field environment
- 2012
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Conference paper (peer-reviewed)abstract
- The development of a new complex software or industrial system produces a series of prototypes that may contain faults during the processes, including development, design, and production. Therefore, during the early stages of prototyping complex systems, reliability often faces a major challenge in meeting the desired requirements level. For these reasons, a typical reliability improvement process is carried out in order to achieve a specific software/system reliability level. Incorrect estimation of reliability could lead to an inappropriate system design and implementation of incorrect maintenance policies.Many software reliability models have been proposed to help software developers and managers to assess the level of the reliability and estimation of the development cost. Among these software reliability models, Non-Homogenous Poisson Process (NHPP) based models have been successfully applied to model the software failure processes, and predict the number of software failures. NHPP has been used also to determine “time to stop testing” and release the software.Usually, the testing-development phase has been carried out in a given control environment. However, the product will be used in different operating environment by different end-users, which is unknown to the developer. The operating environment may range from a very clean one up to a harsh environment. These uncertain operating environments will impact to the reliability and performance of the software which may differ from the testing phase reliability. Hence the effect of environmental factors on reliability should be considered for estimation of the operational phase reliability. In fact the effect of environment on reliability has a fuzzy nature and quiet random. On the other hand, it is well known that the probability distribution and its parameters cannot be univocally defined. To overcome this problem, the fuzzy probabilistic theory may be used in the processing of stochastic parameters, taking into account their fuzzy nature. In fact, the fuzzy random effects of the field environments can be captured by a unit-free environmental factor. Based on the fuzzy probability distribution and its properties, we can define a fuzzy reliability function. The aim of this paper is to introduce a Fuzzy random field environment (FRFE) reliability model that covers both the testing and operating phases in the development cycle. The proposed model is based on Weibull distribution. It should be noted that the testing costs is one the major concern in software/system development. Several researcher investigated software/System release policies to minimize development cost while satisfying a reliability objective. Although the length of testing phase directly relates to the number of errors removed, but leads to a significant financial loss by increasing testing cost and delay in delivery. Further, releasing software in the market before reaching its desired level of reliability (which is fixed by the manager) may increase the maintenance cost during operational phase as well as create risk to lose future market.For a critical software system, the penalty costs resulting from the software failures are much more significant than the software development costs themselves. Therefore, the total software/ system cost should consist of not only the development costs, but also the penalty costs resulting from the software failure in operational phase. For software developers and managers, the following questions need to be answered (1) How to allocate the resources to ensure the on-time delivery of a software product? (2) When to stop testing and release the software from current software testing activities? (3) Is the software product really reliable in field? To answer the above mentioned questions, the paper proposes a cost function using proposed FRFE reliability model, to determine the optimal release policies.
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- Grundberg, Elin, et al.
(author)
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Mapping cis- and trans-regulatory effects across multiple tissues in twins.
- 2012
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In: Nature Genetics. - : Springer Science and Business Media LLC. - 1061-4036 .- 1546-1718. ; 44:10
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Journal article (peer-reviewed)abstract
- Sequence-based variation in gene expression is a key driver of disease risk. Common variants regulating expression in cis have been mapped in many expression quantitative trait locus (eQTL) studies, typically in single tissues from unrelated individuals. Here, we present a comprehensive analysis of gene expression across multiple tissues conducted in a large set of mono- and dizygotic twins that allows systematic dissection of genetic (cis and trans) and non-genetic effects on gene expression. Using identity-by-descent estimates, we show that at least 40% of the total heritable cis effect on expression cannot be accounted for by common cis variants, a finding that reveals the contribution of low-frequency and rare regulatory variants with respect to both transcriptional regulation and complex trait susceptibility. We show that a substantial proportion of gene expression heritability is trans to the structural gene, and we identify several replicating trans variants that act predominantly in a tissue-restricted manner and may regulate the transcription of many genes.
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- Mahmood, Yasser Ahmed, et al.
(author)
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Fuzzy fault tree analysis: a review of concept and application
- 2013
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In: International Journal of Systems Assurance Engineering and Management. - : Springer Science and Business Media LLC. - 0975-6809 .- 0976-4348. ; 4:1, s. 19-32
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Journal article (peer-reviewed)abstract
- Fault tree analysis (FTA) is a widely used method for analyzing a system’s failure logic and calculating overall reliability. However, application of conventional FTA has some shortcomings, e.g. in handling the uncertainties, allowing the use of linguistic variables, and integrating human error in failure logic model. Hence, Fuzzy set theory has been proposed to overcome the limitation of conventional FTA. Fuzzy logic provides a framework whereby basic notions such as similarity, uncertainty and preference can be modeled effectively.The aim of this paper is to present a review of the concept of fuzzy theory with fault tree analysis and their applications since 1981, to reflect the current status of Fuzzy Fault Tree Analysis (FFTA) methodologies, their strengths, weaknesses, and their applications. This paper explains the fundamentals of fuzzy theory and describes application of fuzzy importance for using FFTA. The concept of the failure possibility and uncertainty analysis by using FFTA is discussed, and concludes with discussion on the application of FFTA in different fields. The review reveals the effectiveness of the FFTA in comparison with conventional FTA, when there is inadequate amount of accurate reliability oriented information.
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