918 resultados para Genome annotation


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In recent years there is an apparent shift in research from content based image retrieval (CBIR) to automatic image annotation in order to bridge the gap between low level features and high level semantics of images. Automatic Image Annotation (AIA) techniques facilitate extraction of high level semantic concepts from images by machine learning techniques. Many AIA techniques use feature analysis as the first step to identify the objects in the image. However, the high dimensional image features make the performance of the system worse. This paper describes and evaluates an automatic image annotation framework which uses SURF descriptors to select right number of features and right features for annotation. The proposed framework uses a hybrid approach in which k-means clustering is used in the training phase and fuzzy K-NN classification in the annotation phase. The performance of the system is evaluated using standard metrics.

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The ongoing growth of the World Wide Web, catalyzed by the increasing possibility of ubiquitous access via a variety of devices, continues to strengthen its role as our prevalent information and commmunication medium. However, although tools like search engines facilitate retrieval, the task of finally making sense of Web content is still often left to human interpretation. The vision of supporting both humans and machines in such knowledge-based activities led to the development of different systems which allow to structure Web resources by metadata annotations. Interestingly, two major approaches which gained a considerable amount of attention are addressing the problem from nearly opposite directions: On the one hand, the idea of the Semantic Web suggests to formalize the knowledge within a particular domain by means of the "top-down" approach of defining ontologies. On the other hand, Social Annotation Systems as part of the so-called Web 2.0 movement implement a "bottom-up" style of categorization using arbitrary keywords. Experience as well as research in the characteristics of both systems has shown that their strengths and weaknesses seem to be inverse: While Social Annotation suffers from problems like, e. g., ambiguity or lack or precision, ontologies were especially designed to eliminate those. On the contrary, the latter suffer from a knowledge acquisition bottleneck, which is successfully overcome by the large user populations of Social Annotation Systems. Instead of being regarded as competing paradigms, the obvious potential synergies from a combination of both motivated approaches to "bridge the gap" between them. These were fostered by the evidence of emergent semantics, i. e., the self-organized evolution of implicit conceptual structures, within Social Annotation data. While several techniques to exploit the emergent patterns were proposed, a systematic analysis - especially regarding paradigms from the field of ontology learning - is still largely missing. This also includes a deeper understanding of the circumstances which affect the evolution processes. This work aims to address this gap by providing an in-depth study of methods and influencing factors to capture emergent semantics from Social Annotation Systems. We focus hereby on the acquisition of lexical semantics from the underlying networks of keywords, users and resources. Structured along different ontology learning tasks, we use a methodology of semantic grounding to characterize and evaluate the semantic relations captured by different methods. In all cases, our studies are based on datasets from several Social Annotation Systems. Specifically, we first analyze semantic relatedness among keywords, and identify measures which detect different notions of relatedness. These constitute the input of concept learning algorithms, which focus then on the discovery of synonymous and ambiguous keywords. Hereby, we assess the usefulness of various clustering techniques. As a prerequisite to induce hierarchical relationships, our next step is to study measures which quantify the level of generality of a particular keyword. We find that comparatively simple measures can approximate the generality information encoded in reference taxonomies. These insights are used to inform the final task, namely the creation of concept hierarchies. For this purpose, generality-based algorithms exhibit advantages compared to clustering approaches. In order to complement the identification of suitable methods to capture semantic structures, we analyze as a next step several factors which influence their emergence. Empirical evidence is provided that the amount of available data plays a crucial role for determining keyword meanings. From a different perspective, we examine pragmatic aspects by considering different annotation patterns among users. Based on a broad distinction between "categorizers" and "describers", we find that the latter produce more accurate results. This suggests a causal link between pragmatic and semantic aspects of keyword annotation. As a special kind of usage pattern, we then have a look at system abuse and spam. While observing a mixed picture, we suggest that an individual decision should be taken instead of disregarding spammers as a matter of principle. Finally, we discuss a set of applications which operationalize the results of our studies for enhancing both Social Annotation and semantic systems. These comprise on the one hand tools which foster the emergence of semantics, and on the one hand applications which exploit the socially induced relations to improve, e. g., searching, browsing, or user profiling facilities. In summary, the contributions of this work highlight viable methods and crucial aspects for designing enhanced knowledge-based services of a Social Semantic Web.

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El marcaje de proteínas con ubiquitina, conocido como ubiquitinación, cumple diferentes funciones que incluyen la regulación de varios procesos celulares, tales como: la degradación de proteínas por medio del proteosoma, la reparación del ADN, la señalización mediada por receptores de membrana, y la endocitosis, entre otras (1). Las moléculas de ubiquitina pueden ser removidas de sus sustratos gracias a la acción de un gran grupo de proteasas, llamadas enzimas deubiquitinizantes (DUBs) (2). Las DUBs son esenciales para la manutención de la homeostasis de la ubiquitina y para la regulación del estado de ubiquitinación de diferentes sustratos. El gran número y la diversidad de DUBs descritas refleja tanto su especificidad como su utilización para regular un amplio espectro de sustratos y vías celulares. Aunque muchas DUBs han sido estudiadas a profundidad, actualmente se desconocen los sustratos y las funciones biológicas de la mayoría de ellas. En este trabajo se investigaron las funciones de las DUBs: USP19, USP4 y UCH-L1. Utilizando varias técnicas de biología molecular y celular se encontró que: i) USP19 es regulada por las ubiquitin ligasas SIAH1 y SIAH2 ii) USP19 es importante para regular HIF-1α, un factor de transcripción clave en la respuesta celular a hipoxia, iii) USP4 interactúa con el proteosoma, iv) La quimera mCherry-UCH-L1 reproduce parcialmente los fenotipos que nuestro grupo ha descrito previamente al usar otros constructos de la misma enzima, y v) UCH-L1 promueve la internalización de la bacteria Yersinia pseudotuberculosis.

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Background: The human condition known as Premature Ovarian Failure (POF) is characterized by loss of ovarian function before the age of 40. A majority of POF cases are sporadic, but 10–15% are familial, suggesting a genetic origin of the disease. Although several causal mutations have been identified, the etiology of POF is still unknown for about 90% of the patients. Methodology/Principal Findings: We report a genome-wide linkage and homozygosity analysis in one large consanguineous Middle-Eastern POF-affected family presenting an autosomal recessive pattern of inheritance. We identified two regions with a LODmax of 3.26 on chromosome 7p21.1-15.3 and 7q21.3-22.2, which are supported as candidate regions by homozygosity mapping. Sequencing of the coding exons and known regulatory sequences of three candidate genes (DLX5, DLX6 and DSS1) included within the largest region did not reveal any causal mutations. Conclusions/Significance: We detect two novel POF-associated loci on human chromosome 7, opening the way to the identification of new genes involved in the control of ovarian development and function.

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Most speciation events probably occur gradually, without complete and immediate reproductive isolation, but the full extent of gene flow between diverging species has rarely been characterized on a genome-wide scale. Documenting the extent and timing of admixture between diverging species can clarify the role of geographic isolation in speciation. Here we use new methodology to quantify admixture at different stages of divergence in Heliconius butterflies, based on whole-genome sequences of 31 individuals. Comparisons between sympatric and allopatric populations of H. melpomene, H. cydno, and H. timareta revealed a genome-wide trend of increased shared variation in sympatry, indicative of pervasive interspecific gene flow. Up to 40% of 100-kb genomic windows clustered by geography rather than by species, demonstrating that a very substantial fraction of the genome has been shared between sympatric species. Analyses of genetic variation shared over different time intervals suggested that admixture between these species has continued since early in speciation. Alleles shared between species during recent time intervals displayed higher levels of linkage disequilibrium than those shared over longer time intervals, suggesting that this admixture took place at multiple points during divergence and is probably ongoing. The signal of admixture was significantly reduced around loci controlling divergent wing patterns, as well as throughout the Z chromosome, consistent with strong selection for Müllerian mimicry and with known Z-linked hybrid incompatibility. Overall these results show that species divergence can occur in the face of persistent and genome-wide admixture over long periods of time.

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BACKGROUND: Serial Analysis of Gene Expression (SAGE) is a powerful tool for genome-wide transcription studies. Unlike microarrays, it has the ability to detect novel forms of RNA such as alternatively spliced and antisense transcripts, without the need for prior knowledge of their existence. One limitation of using SAGE on an organism with a complex genome and lacking detailed sequence information, such as the hexaploid bread wheat Triticum aestivum, is accurate annotation of the tags generated. Without accurate annotation it is impossible to fully understand the dynamic processes involved in such complex polyploid organisms. Hence we have developed and utilised novel procedures to characterise, in detail, SAGE tags generated from the whole grain transcriptome of hexaploid wheat. RESULTS: Examination of 71,930 Long SAGE tags generated from six libraries derived from two wheat genotypes grown under two different conditions suggested that SAGE is a reliable and reproducible technique for use in studying the hexaploid wheat transcriptome. However, our results also showed that in poorly annotated and/or poorly sequenced genomes, such as hexaploid wheat, considerably more information can be extracted from SAGE data by carrying out a systematic analysis of both perfect and "fuzzy" (partially matched) tags. This detailed analysis of the SAGE data shows first that while there is evidence of alternative polyadenylation this appears to occur exclusively within the 3' untranslated regions. Secondly, we found no strong evidence for widespread alternative splicing in the developing wheat grain transcriptome. However, analysis of our SAGE data shows that antisense transcripts are probably widespread within the transcriptome and appear to be derived from numerous locations within the genome. Examination of antisense transcripts showing sequence similarity to the Puroindoline a and Puroindoline b genes suggests that such antisense transcripts might have a role in the regulation of gene expression. CONCLUSION: Our results indicate that the detailed analysis of transcriptome data, such as SAGE tags, is essential to understand fully the factors that regulate gene expression and that such analysis of the wheat grain transcriptome reveals that antisense transcripts maybe widespread and hence probably play a significant role in the regulation of gene expression during grain development.