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.

Amazonian Vegetable Oils and Fats: Fast Typification and Quality Control via Triacylglycerol (TAG) Profiles from Dry Matrix-Assisted Laser Desorption/Ionization Time-of-Flight (MALDI-TOF) Mass Spectrometry Fingerprinting

Amazonian oils and fats display unique triacylglycerol (TAG) profiles and, because of their economic importance as renewable raw materials and use by the cosmetic and food industries, are often subject to adulteration and forgery. Representative samples of these oils (andiroba, Brazil nut, buriti, and passion fruit) and fats (cupuacu, murumuru, and ucuba) were characterized without pre-separation or derivatization via dry (solvent-free) matrix-assisted laser desorption/ionization time-of-flight mass spectrometry (MALDI-TOF MS). Characteristic profiles of TAG were obtained for each oil and tat. Dry MALDI-TOF MS provides typification and direct and detailed information, via TAG profiles, of their variable combinations of fatty acids. A database from spectra could be developed and may be used for their fast and reliable typification, application screening, and quality control.