Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair

Recurrent submicroscopic genomic copy number changes are the result of nonallelic homologous recombination (NAHR). Nonrecurrent aberrations, however, can result from different nonexclusive recombination-repair mechanisms. We previously described small microduplications at Xq28 containing MECP2 in four male patients with a severe neurological phenotype. Here, we report on the fine-mapping and breakpoint analysis of 16 unique microduplications. The size of the overlapping copy number changes varies between 0.3 and 2.3 Mb, and FISH analysis on three patients demonstrated a tandem orientation. Although eight of the 32 breakpoint regions coincide with low-copy repeats, none of the duplications are the result of NAHR. Bioinformatics analysis of the breakpoint regions demonstrated a 2.5-fold higher frequency of Alu interspersed repeats as compared with control regions, as well as a very high GC content (53%). Unexpectedly, we obtained the junction in only one patient by long-range PCR, which revealed nonhomologous end joining as the mechanism. Breakpoint analysis in two other patients by inverse PCR and subsequent array comparative genomic hybridization analysis demonstrated the presence of a second duplicated region more telomeric at Xq28, of which one copy was inserted in between the duplicated MECP2 regions. These data suggest a two-step mechanism in which part of Xq28 is first inserted near the MECP2 locus, followed by breakage-induced replication with strand invasion of the normal sister chromatid. Our results indicate that the mechanism by which copy number changes occur in regions with a complex genomic architecture can yield complex rearrangements.

OntoMap: an ontology-based architecture to perform the semantic mapping between an interlingua and software components

This paper is about the use of natural language to communicate with computers. Most researches that have pursued this goal consider only requests expressed in English. A way to facilitate the use of several languages in natural language systems is by using an interlingua. An interlingua is an intermediary representation for natural language information that can be processed by machines. We propose to convert natural language requests into an interlingua [universal networking language (UNL)] and to execute these requests using software components. In order to achieve this goal, we propose OntoMap, an ontology-based architecture to perform the semantic mapping between UNL sentences and software components. OntoMap also performs component search and retrieval based on semantic information formalized in ontologies and rules.

Image indexing and retrieval using an ART-2A neural network architecture

Traditional content-based image retrieval (CBIR) systems use low-level features such as colors, shapes, and textures of images. Although, users make queries based on semantics, which are not easily related to such low-level characteristics. Recent works on CBIR confirm that researchers have been trying to map visual low-level characteristics and high-level semantics. The relation between low-level characteristics and image textual information has motivated this article which proposes a model for automatic classification and categorization of words associated to images. This proposal considers a self-organizing neural network architecture, which classifies textual information without previous learning. Experimental results compare the performance results of the text-based approach to an image retrieval system based on low-level features. (c) 2008 Wiley Periodicals, Inc.

An aspect-oriented reference architecture for Software Engineering Environments

Reusable and evolvable Software Engineering Environments (SEES) are essential to software production and have increasingly become a need. In another perspective, software architectures and reference architectures have played a significant role in determining the success of software systems. In this paper we present a reference architecture for SEEs, named RefASSET, which is based on concepts coming from the aspect-oriented approach. This architecture is specialized to the software testing domain and the development of tools for that domain is discussed. This and other case studies have pointed out that the use of aspects in RefASSET provides a better Separation of Concerns, resulting in reusable and evolvable SEEs. (C) 2011 Elsevier Inc. All rights reserved.

A Parallel Hardware Architecture for Scale and Rotation Invariant Feature Detection

This paper proposes a parallel hardware architecture for image feature detection based on the Scale Invariant Feature Transform algorithm and applied to the Simultaneous Localization And Mapping problem. The work also proposes specific hardware optimizations considered fundamental to embed such a robotic control system on-a-chip. The proposed architecture is completely stand-alone; it reads the input data directly from a CMOS image sensor and provides the results via a field-programmable gate array coupled to an embedded processor. The results may either be used directly in an on-chip application or accessed through an Ethernet connection. The system is able to detect features up to 30 frames per second (320 x 240 pixels) and has accuracy similar to a PC-based implementation. The achieved system performance is at least one order of magnitude better than a PC-based solution, a result achieved by investigating the impact of several hardware-orientated optimizations oil performance, area and accuracy.

Medhörning i studio

I denna uppsats undersöker jag hur musikerns prestation påverkas av medhörningen. Jag har inriktat mig på sångare och sånginspelning i studio. I undersökningen har jag använt mig av tre informanter som fick sjunga till fem olika mixar i medhörningen. Jag analyserade sedan deras intonering, rytmisering och sångstyrka. Resultaten av undersökningen blev att intoneringen till viss del påverkas av medhörningen, rytmiseringen och sångstyrkan påverkas i hög grad av medhörningen.

Sine ira et studio : En kvalitativ analys av institutionaliseringsprocessens konsekvenser inom den nypaganistiska rörelsen Church of All Worlds

Uppsatsen har för avsikt att undersöka hur den nypaganistiska, och i första hand nordamerikanska, rörelsen Church of All Worlds reagerar mot förändring och institutionalisering. För att förstå institutionaliseringsprocessens bakomliggande krafter och identifiera dess konsekvenser, är det övergripande syftet med uppsatsen att utifrån en fallstudie av Church of All Worlds undersöka hur organisationen under sina verksamhetsår förändrats i fråga om (1) förhållande till samhället, (2) ideologi, (3) organisatorisk struktur och (4) ledarskap. Utgångspunkten är att betrakta rörelsen som dels religiös och spirituell, dels organisatorisk och ekonomisk, varför uppsatsen lutar sin teoribildning mot både religions- och samhällsvetenskapen och mot organisationsteorin. Som samhälleliga samt organisatoriska faktorer till Church of All Worlds institutionalisering finner vi den postmoderna motreaktionen mot industrisamhällets missförhållanden samt kritiken mot existensen av den objektiva sanningen. Institutionaliseringens följder är emellertid att rörelsen slutligen upptas som en del av det sen-moderna samhällssystemet. Förändringen märks i första hand då rörelsen under 80-talet förvandlas till en ekonomiskt intresserad organisation med tjänstehierarkier och reglerat ansvar som påföljder. Den byråkratiska arbetsordningen urlakar inte bara rörelsens ideologi, utan tvingar också den nu demokratiskt tillsatte ledaren till radikala åtgärder för att återfå sin makt, något som når sin kulmen i en konflikt med ledarens sorti som yttersta konsekvens.

Grafisk profilering och marknadsföring av fotogruppen Studio Fornby

SummaryA complete graphic profile program along with marketing material has been produced for seven photographers.The material has been produced in consideration to sell their pictures outside of Scandinaviaand Brazil as first priority. The criterion for the profile is to give a message of quality and ofScandinavia. Through research and interviews facts about typical scandinavian design have beenfound. Since the pictures will be exported abroad, a selling packaging solution has been developed. Theparts that are included in the marketing material are: a brochure, display solution, a website and printingexamples. One of the purposes with the project is that the company from the given price offer canevaluate the posibility to produce pictures.

Building a Learning Architecture : e-Learning and e-Services

With the rapid advancement of the webtechnology, more and more educationalresources, including software applications forteaching/learning methods, are available acrossthe web, which enables learners to access thelearning materials and use various ways oflearning at any time and any place. Moreover,various web-based teaching/learning approacheshave been developed during the last decade toenhance the capability of both educators andlearners. Particularly, researchers from bothcomputer science and education are workingtogether, collaboratively focusing ondevelopment of pedagogically enablingtechnologies which are believed to improve theinfrastructure of education systems andprocesses, including curriculum developmentmodels, teaching/learning methods, managementof educational resources, systematic organizationof communication and dissemination ofknowledge and skills required by and adapted tousers. Despite of its fast development, however,there are still great gaps between learningintentions, organization of supporting resources,management of educational structures,knowledge points to be learned and interknowledgepoint relationships such as prerequisites,assessment of learning outcomes, andtechnical and pedagogic approaches. Moreconcretely, the issues have been widelyaddressed in literature include a) availability andusefulness of resources, b) smooth integration ofvarious resources and their presentation, c)learners’ requirements and supposed learningoutcomes, d) automation of learning process interms of its schedule and interaction, and e)customization of the resources and agilemanagement of the learning services for deliveryas well as necessary human interferences.Considering these problems and bearing in mindthe advanced web technology of which weshould make full use, in this report we willaddress the following two aspects of systematicarchitecture of learning/teaching systems: 1)learning objects – a semantic description andorganization of learning resources using the webservice models and methods, and 2) learningservices discovery and learning goals match foreducational coordination and learning serviceplanning.

Defining the role of common variation in the genomic and biological architecture of adult human height

Using genome-wide data from 253,288 individuals, we identified 697 variants at genome-wide significance that together explained one-fifth of the heritability for adult height. By testing different numbers of variants in independent studies, we show that the most strongly associated ∼2,000, ∼3,700 and ∼9,500 SNPs explained ∼21%, ∼24% and ∼29% of phenotypic variance. Furthermore, all common variants together captured 60% of heritability. The 697 variants clustered in 423 loci were enriched for genes, pathways and tissue types known to be involved in growth and together implicated genes and pathways not highlighted in earlier efforts, such as signaling by fibroblast growth factors, WNT/β-catenin and chondroitin sulfate-related genes. We identified several genes and pathways not previously connected with human skeletal growth, including mTOR, osteoglycin and binding of hyaluronic acid. Our results indicate a genetic architecture for human height that is characterized by a very large but finite number (thousands) of causal variants.2014

A security architecture for a semantic Grid registry

Existing registry technologies such as UDDI can be enhanced to support capabilities for semantic reasoning and inquiry, which subsequently increases its usability range. The Grimoires registry was developed to provide such support through the use of metadata attachments to registry entities. The use of such attachments provides a way for allowing service operators to specify security assertions pertaining to registry entities owned by them. These assertions may however have to be reconciled with existing registry policies. A security architecture based on the XACML standard and deployed in the OMII framework is outlined to demonstrate how this goal is achieved in the registry.