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01 april 2023, Item does not contain fulltext, A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single-nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q-PCR) analysis were used as diagnostic tests. SNP array revealed a maternal deletion at 16q24.1, encompassing the cleft candidate gene USP10. WES revealed an additional de novo Loss-of-Function variant (p.(Asn838fs)) in the Zinc-Finger-Homeobox-4 (ZFHX4) gene. Q-PCR was performed to explore the effect of the ZFHX4 variant and the deletion in 16q24.1. The mRNA expression of a selection of putative target genes involved in orofacial clefting showed a lowered expression of USP10 (52%), CRISPLD2 (31%), and CRISPLD1 (1%) compared to the control. IRF6 showed no difference in gene expression. This case supports ZFHX4 as a novel cleft gene and suggests USP10 may contribute to the etiology of orofacial clefts in humans.

01 april 2023, Item does not contain fulltext, A girl with a unilateral cleft lip, alveolus and palate, tooth agenesis, and mild dysmorphic features, without a specific underlying syndrome diagnosis, was genotypically characterized and phenotypically described. Cleft gene panel analysis, single-nucleotide polymorphism (SNP) array, whole genome sequencing (WGS), whole exome sequencing, and quantitative PCR (Q-PCR) analysis were used as diagnostic tests. SNP array revealed a maternal deletion at 16q24.1, encompassing the cleft candidate gene USP10. WES revealed an additional de novo Loss-of-Function variant (p.(Asn838fs)) in the Zinc-Finger-Homeobox-4 (ZFHX4) gene. Q-PCR was performed to explore the effect of the ZFHX4 variant and the deletion in 16q24.1. The mRNA expression of a selection of putative target genes involved in orofacial clefting showed a lowered expression of USP10 (52%), CRISPLD2 (31%), and CRISPLD1 (1%) compared to the control. IRF6 showed no difference in gene expression. This case supports ZFHX4 as a novel cleft gene and suggests USP10 may contribute to the etiology of orofacial clefts in humans.

In spatially located, large scale systems, time and space dynamics interact and drives the behaviour. Examples of such systems can be found in many smart city applications and Cyber-Physical Systems. In this paper we present the Signal Spatio-Temporal Logic (SSTL), a modal logic that can be used to specify spatio-temporal properties of linear time and discrete space models. The logic is equipped with a Boolean and a quantitative semantics for which efficient monitoring algorithms have been developed. As such, it is suitable for real-time verification of both white box and black box complex systems. These algorithms can also be combined with stochastic model checking routines. SSTL combines the until temporal modality with two spatial modalities, one expressing that something is true somewhere nearby and the other capturing the notion of being surrounded by a region that satisfies a given spatio-temporal property. The monitoring algorithms are implemented in an open source Java tool. We illustrate the use of SSTL analysing the formation of patterns in a Turing Reaction-Diffusion system and spatio-temporal aspects of a large bike-sharing system., Comment: 36 pages with 13 figures

Labeled state-to-function transition systems, FuTS for short, are characterized by transitions which relate states to functions of states over general semirings, equipped with a rich set of higher-order operators. As such, FuTS constitute a convenient modeling instrument to deal with process languages and their quantitative extensions in particular. In this paper, the notion of bisimulation induced by a FuTS is addressed from a coalgebraic point of view. A correspondence result is established stating that FuTS-bisimilarity coincides with behavioural equivalence of the associated functor. As generic examples, the equivalences underlying substantial fragments of major examples of quantitative process algebras are related to the bisimilarity of specific FuTS. The examples range from a stochastic process language, PEPA, to a language for Interactive Markov Chains, IML, a (discrete) timed process language, TPC, and a language for Markov Automata, MAL. The equivalences underlying these languages are related to the bisimilarity of their specific FuTS. By the correspondence result coalgebraic justification of the equivalences of these calculi is obtained. The specific selection of languages, besides covering a large variety of process interaction models and modelling choices involving quantities, allows us to show different classes of FuTS, namely so-called simple FuTS, combined FuTS, nested FuTS, and general FuTS. © 2015 Logical Methods in Computer Science.

Labeled state-to-function transition systems, FuTS for short, are characterized by transitions which relate states to functions of states over general semirings, equipped with a rich set of higher-order operators. As such, FuTS constitute a convenient modeling instrument to deal with process languages and their quantitative extensions in particular. In this paper, the notion of bisimulation induced by a FuTS is addressed from a coalgebraic point of view. A correspondence result is established stating that FuTS-bisimilarity coincides with behavioural equivalence of the associated functor. As generic examples, the equivalences underlying substantial fragments of major examples of quantitative process algebras are related to the bisimilarity of specific FuTS. The examples range from a stochastic process language, PEPA, to a language for Interactive Markov Chains, IML, a (discrete) timed process language, TPC, and a language for Markov Automata, MAL. The equivalences underlying these languages are related to the bisimilarity of their specific FuTS. By the correspondence result coalgebraic justification of the equivalences of these calculi is obtained. The specific selection of languages, besides covering a large variety of process interaction models and modelling choices involving quantities, allows us to show different classes of FuTS, namely so-called simple FuTS, combined FuTS, nested FuTS, and general FuTS. © 2015 Logical Methods in Computer Science.

Labeled state-to-function transition systems, FuTS for short, admit multiple transition schemes from states to functions of finite support over general semirings. As such they constitute a convenient modeling instrument to deal with stochastic process languages. In this paper, the notion of bisimulation induced by a FuTS is addressed from a coalgebraic point of view. A correspondence result is proven stating that FuTS-bisimulation coincides with the behavioral equivalence of the associated functor. As generic examples, the concrete existing equivalences for the core of the stochastic process algebras PEPA and IML are related to the bisimulation of specific FuTS, providing via the correspondence result coalgebraic justification of the equivalences of these calculi.

Labeled state-to-function transition systems, FuTS for short, admit multiple transition schemes from states to functions of finite support over general semirings. As such they constitute a convenient modeling instrument to deal with stochastic process languages. In this paper, the notion of bisimulation induced by a FuTS is addressed from a coalgebraic point of view. A correspondence result is proven stating that FuTS-bisimulation coincides with the behavioral equivalence of the associated functor. As generic examples, the concrete existing equivalences for the core of the stochastic process algebras PEPA and IML are related to the bisimulation of specific FuTS, providing via the correspondence result coalgebraic justification of the equivalences of these calculi.

Labeled state-to-function transition systems, FuTS for short, admit multiple transition schemes from states to functions of finite support over general semirings. As such they constitute a convenient modeling instrument to deal with stochastic process languages. In this paper, the notion of bisimulation induced by a FuTS is proposed and a correspondence result is proven stating that FuTS-bisimulation coincides with the behavioral equivalence of the associated functor. As generic examples, the concrete existing equivalences for the core of the process algebras ACP, PEPA and IMC are related to the bisimulation of specific FuTS, providing via the correspondence result coalgebraic justification of the equivalences of these calculi., Comment: In Proceedings ACCAT 2012, arXiv:1208.4301

Using cognitive architectures to analyse the usability of human-computer interfaces is an extensively investigated strategy. A particularly powerful way to perform such analysis is through syndetic modelling, where both the interface and the chosen cognitive model are described in the same specification framework; allowing the combined behaviour of the two to be analysed. This paper proposes LOTOS as a syndetic modelling language. We highlight four reasons why syndetic modelling is so difficult and show how the LOTOS notation addresses each of the four.

We present the formal specification and verification of a lip synchronisation algorithm using the real-time model checker UPPAAL. A number of specifications of this algorithm can be found in the literature, but this is the first automatic verification. We take a published specification of the algorithm, code it up in the UPPAAL timed automata notation and then verify whether the algorithm satisfies the key properties of jitter and skew. The verification reveals some flaws in the algorithm. In particular, it shows that for certain sound and video streams the algorithm can timelock before reaching a prescribed error state.

SC24, the sub-committee of the International Organisation for Standardization responsible for the area of computer graphics and image processing, is in the process of completing work on a new standard for multimedia systems, called PREMO. For the first time in SC24, formal methods were employed during the development of the standard. The lessons learned from this exercise are interesting for two reasons. First, PREMO spans concerns ranging from the underlying object model through to issues related to media content. The broad scope of this work has presented challenges to the use of formal methods that have not been reported in other industrial applications. Second, the standards development process places restrictions on how formal methods can be applied. This paper describes the approaches that the PREMO specification group adopted to address the technical demands of the application area and, critically, where those approaches were found wanting. The lessons learned from the case study are discussed in the context of recent debates within the formal methods community on making formal methods relevant to software practitioners.

SC24, the sub-committee of the International Organisation for Standardization responsible for the area of computer graphics and image processing, is in the process of completing work on a new standard for multimedia systems, called PREMO. For the first time in SC24, formal methods were employed during the development of the standard. The lessons learned from this exercise are interesting for two reasons. First, PREMO spans concerns ranging from the underlying object model through to issues related to media content. The broad scope of this work has presented challenges to the use of formal methods that have not been reported in other industrial applications. Second, the standards development process places restrictions on how formal methods can be applied. This paper describes the approaches that the PREMO specification group adopted to address the technical demands of the application area and, critically, where those approaches were found wanting. The lessons learned from the case study are discussed in the context of recent debates within the formal methods community on making formal methods relevant to software practitioners.

Promotores : R. Boute en D. Pedreschi, Contains fulltext : mmubn000001_216582245.pdf (publisher's version ) (Open Access)

Promotores : R. Boute en D. Pedreschi, Contains fulltext : mmubn000001_216582245.pdf (publisher's version ) (Open Access)