738 resultados para Annotation de génomes


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While watching TV, viewers use the remote control to turn the TV set on and off, change channel and volume, to adjust the image and audio settings, etc. Worldwide, research institutes collect information about audience measurement, which can also be used to provide personalization and recommendation services, among others. The interactive digital TV offers viewers the opportunity to interact with interactive applications associated with the broadcast program. Interactive TV infrastructure supports the capture of the user-TV interaction at fine-grained levels. In this paper we propose the capture of all the user interaction with a TV remote control-including short term and instant interactions: we argue that the corresponding captured information can be used to create content pervasively and automatically, and that this content can be used by a wide variety of services, such as audience measurement, personalization and recommendation services. The capture of fine grained data about instant and interval-based interactions also allows the underlying infrastructure to offer services at the same scale, such as annotation services and adaptative applications. We present the main modules of an infrastructure for TV-based services, along with a detailed example of a document used to record the user-remote control interaction. Our approach is evaluated by means of a proof-of-concept prototype which uses the Brazilian Digital TV System, the Ginga-NCL middleware.

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The literature reports research efforts allowing the editing of interactive TV multimedia documents by end-users. In this article we propose complementary contributions relative to end-user generated interactive video, video tagging, and collaboration. In earlier work we proposed the watch-and-comment (WaC) paradigm as the seamless capture of an individual`s comments so that corresponding annotated interactive videos be automatically generated. As a proof of concept, we implemented a prototype application, the WACTOOL, that supports the capture of digital ink and voice comments over individual frames and segments of the video, producing a declarative document that specifies both: different media stream structure and synchronization. In this article, we extend the WaC paradigm in two ways. First, user-video interactions are associated with edit commands and digital ink operations. Second, focusing on collaboration and distribution issues, we employ annotations as simple containers for context information by using them as tags in order to organize, store and distribute information in a P2P-based multimedia capture platform. We highlight the design principles of the watch-and-comment paradigm, and demonstrate related results including the current version of the WACTOOL and its architecture. We also illustrate how an interactive video produced by the WACTOOL can be rendered in an interactive video environment, the Ginga-NCL player, and include results from a preliminary evaluation.

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Laryngeal squamous cell carcinoma is very common in head and neck cancer, with high mortality rates and poor prognosis. In this study, we compared expression profiles of clinical samples from 13 larynx tumors and 10 non-neoplastic larynx tissues using a custom-built cDNA microarray containing 331 probes for 284 genes previously identified by informatics analysis of EST databases as markers of head and neck tumors. Thirty-five genes showed statistically significant differences (SNR >= 11.01, p <= 0.001) in the expression between tumor and non-tumor larynx tissue samples. Functional annotation indicated that these genes are involved in cellular processes relevant to the cancer phenotype, such as apoptosis, cell cycle, DNA repair, proteolysis, protease inhibition, signal transduction and transcriptional regulation. Six of the identified transcripts map to intronic regions of protein-coding genes and may comprise non-annotated exons or as yet uncharacterized long ncRNAs with a regulatory role in the gene expression program of larynx tissue. The differential expression of 10 of these genes (ADCY6, AES, AL2SCR3, CRR9, CSTB, DUSP1, MAP3K5, PLAT, UBL1 and ZNF706) was independently confirmed by quantitative real-time RT-PCR. Among these, the CSTB gene product has cysteine protease inhibitor activity that has been associated with an antimetastatic function. Interestingly, CSTB showed a low expression in the tumor samples analyzed (p<0.0001). The set of genes identified here contribute to a better understanding of the molecular basis of larynx cancer, and provide candidate markers for improving diagnosis, prognosis and treatment of this carcinoma.

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Background: Human infection by the pork tapeworm Taenia solium affects more than 50 million people worldwide, particularly in underdeveloped and developing countries. Cysticercosis which arises from larval encystation can be life threatening and difficult to treat. Here, we investigate for the first time the transcriptome of the clinically relevant cysticerci larval form. Results: Using Expressed Sequence Tags (ESTs) produced by the ORESTES method, a total of 1,520 high quality ESTs were generated from 20 ORESTES cDNA mini-libraries and its analysis revealed fragments of genes with promising applications including 51 ESTs matching antigens previously described in other species, as well as 113 sequences representing proteins with potential extracellular localization, with obvious applications for immune-diagnosis or vaccine development. Conclusion: The set of sequences described here will contribute to deciphering the expression profile of this important parasite and will be informative for the genome assembly and annotation, as well as for studies of intra- and inter-specific sequence variability. Genes of interest for developing new diagnostic and therapeutic tools are described and discussed.

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Rap Genius began as a rap lyric website, but it has since moved far beyond just rap, with unique home pages for Rock, News, and Poetry. At its heart, the ‘Genius’ sites provide a social-collaborative annotation platform. Like Wikipedia, it’s a crowd-sourced database that allows any users to add content. Unlike Wikipedia, Genius invites users to annotate documents, to break down and close read novels, short stories, poems, and a wide variety of other texts.

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Computer technology enables the creation of detailed documentation about the processes that create or affect entities (data, objects, etc.). Such documentation of the past can be used to answer various kinds of questions regarding the processes that led to the creation or modification of a particular entity. The answer to such questions is known as an entity's provenance. In this paper, we derive a number of principles for documenting the past, grounded in work from philosophy and history, which allow for provenance questions to be answered within a computational context. These principles lead us to argue that an interaction-based model is particularly suited for representing high quality documentation of the past.

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The provenance of entities, whether electronic data or physical artefacts, is crucial information in practically all domains, including science, business and art. The increased use of software in automating activities provides the opportunity to add greatly to the amount we can know about an entityâ??s history and the process by which it came to be as it is. However, it also presents difficulties: querying for the provenance of an entity could potentially return detailed information stretching back to the beginning of time, and most of it possibly irrelevant to the querier. In this paper, we define the concept of provenance query and describe techniques that allow us to perform scoped provenance queries.

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Recent work has begun exploring the characterization and utilization of provenance in systems based on the Service Oriented Architecture (such as Web Services and Grid based environments). One of the salient issues related to provenance use within any given system is its security. In a broad sense, security requirements arise within any data archival and retrieval system, however provenance presents unique requirements of its own. These requirements are additionally dependent on the architectural and environmental context that a provenance system operates in. We seek to analyze the security considerations pertaining to a Service Oriented Architecture based provenance system. Towards this end, we describe the components of such a system and illustrate the security considerations that arise within it. Concurrently, we outline possible approaches to address them.

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It is rare for data's history to include computational processes alone. Even when software generates data, users ultimately decide to execute software procedures, choose their configuration and inputs, reconfigure, halt and restart processes, and so on. Understanding the provenance of data thus involves understanding the reasoning of users behind these decisions, but demanding that users explicitly document decisions could be intrusive if implemented naively, and impractical in some cases. In this paper, therefore, we explore an approach to transparently deriving the provenance of user decisions at query time. The user reasoning is simulated, and if the result of the simulation matches the documented decision, the simulation is taken to approximate the actual reasoning. The plausibility of this approach requires that the simulation mirror human decision -making, so we adopt an automated process explicitly modelled on human psychology. The provenance of the decision is modelled in OPM, allowing it to be queried as part of a larger provenance graph, and an OPM profile is provided to allow consistent querying of provenance across user decisions.

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Being able to ask questions about the provenance of some data requires documentation on each influence on that data's existence and content. Much software exists, and is being developed, for which there is no provenance-awareness, i.e. at best, the data it outputs can be connected to its inputs, but with no record of intermediate processing. Further, where some record of processing does exist, e.g. as logs, it is not in a form easily connected with that of other processes. We would like to enable compiled software to record useful documentation without requiring prior manual adaptation. In this paper, we present an approach to adapting source code from its original form without manual manipulation, to record information on data provenance during execution.

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The cellular and molecular characteristics of a cell line (BME26) derived from embryos of the cattle tick Rhipicephalus (Boophilus) microplus were studied. The cells contained glycogen inclusions, numerous mitochondria, and vesicles with heterogeneous electron densities dispersed throughout the cytoplasm. Vesicles contained lipids and sequestered palladium meso-porphyrin (Pd-mP) and rhodamine-hemoglobin, suggesting their involvement in the autophagic and endocytic pathways. The cells phagocytosed yeast and expressed genes encoding the antimicrobial peptides (microplusin and defensin). A cDNA library was made and 898 unique mRNA sequences were obtained. Among them, 556 sequences were not significantly similar to any sequence found in public databases. Annotation using Gene Ontology revealed transcripts related to several different functional classes. We identified transcripts involved in immune response such as ferritin, serine proteases, protease inhibitors,. antimicrobial peptides, heat shock protein, glutathione S-transferase, peroxidase, and NADPH oxidase. BME26 cells transfected with a plasmid carrying a red fluorescent protein reporter gene (DsRed2) transiently expressed DsRed2 for up to 5 weeks. We conclude that BME26 can be used to experimentally analyze diverse biological processes that occur in R. (B.) microplus such as the innate immune response to tick-borne pathogens. (C) 2008 Elsevier Ltd. All rights reserved.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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A detailed genome mapping analysis of 213,636 expressed sequence tags (EST) derived from nontumor and tumor tissues of the oral cavity, larynx, pharynx, and thyroid was done. Transcripts matching known human genes were identified; potential new splice variants were flagged and subjected to manual curation, pointing to 788 putatively new alternative splicing isoforms, the majority (75%) being insertion events. A subset of 34 new splicing isoforms (5% of 788 events) was selected and 23 (68%) were confirmed by reverse transcription-PCR and DNA sequencing. Putative new genes were revealed, including six transcripts mapped to well-studied chromosomes such as 22, as well as transcripts that mapped to 253 intergenic regions. In addition, 2,251 noncoding intronic RNAs, eventually involved in transcriptional regulation, were found. A set of 250 candidate markers for loss of heterozygosis or gene amplification was selected by identifying transcripts that mapped to genomic regions previously known to be frequently amplified or deleted in head, neck, and thyroid tumors. Three of these markers were evaluated by quantitative reverse transcription-PCR in an independent set of individual samples. Along with detailed clinical data about tumor origin, the information reported here is now publicly available on a dedicated Web site as a resource for further biological investigation. This first in silico reconstruction of the head, neck, and thyroid transcriptomes points to a wealth of new candidate markers that can be used for future studies on the molecular basis of these tumors. Similar analysis is warranted for a number of other tumors for which large EST data sets are available.

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Fundação de Amparo à Pesquisa do Estado de São Paulo (FAPESP)

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Transcribed sequences in the human genome can be identified with confidence only by alignment with sequences derived from cDNAs synthesized from naturally occurring mRNAs. We constructed a set of 250,000 cDNAs that represent partial expressed gene sequences and that are biased toward the central coding regions of the resulting transcripts. They are termed ORF expressed sequence tags (ORESTES). The 250,000 ORESTEs were assembled into 81,429 contigs. of these, 1,181 (1.45%) were found to match sequences in chromosome 22 with at least one ORESTES contig for 162 (65.6%) of the 247 known genes, for 67 (44.6%) of the 150 related genes, and for 45 of the 148 (30.4%) EST-predicted genes on this chromosome. Using a set of stringent criteria to validate our sequences, we identified a further 219 previously unannotated transcribed sequences on chromosome 22. of these, 171 were in fact also defined by EST or full length cDNA sequences available in GenBank but not utilized in the initial annotation of the first human chromosome sequence. Thus despite representing less than 15% of all expressed human sequences in the public databases at the time of the present analysis, ORESTEs sequences defined 48 transcribed sequences on chromosome 22 not defined by other sequences. All of the transcribed sequences defined by ORESTEs coincided with DNA regions predicted as encoding exons by GENSCAN.