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Suggested actions from the Melbourne HVP Information Seminar Nature Precedings
Richard Cotton; Myles Axton; Agnes Bankier; Bernard Brais; Lawrence Cavedon; Desirée du Sart; Peter George; David Goldgar; Terence Harrison; Marienne Hibbert; John Hopper; Finlay Macrae; Christine M. O’Keefe; David Ravine; Ravi Savarirayan; Les Sheffield; Tim Smith; Nicola Stokes; Vijaya Sundararajan; David Thorburn; Ingrid Winship.
The Human Variome Project (HVP; www.humanvariomeproject.org) was initiated at a meeting in June 2006 and addressed the problems of collecting genetic information and generated 96 recommendations (http://www.nature.com/ng/journal/v39/n4/full/ng0407-423.html) to overcome these, with the focus on Mendelian disease. A considerable number of projects have been added, to those that have been ongoing for a number of years, since that meeting. Also, a planning meeting is to be held May 25-29, 2008 in Spain (http://www.humanvariomeproject.org/HVP2008/).

A dramatic boost has been given to the HVP by the preparedness and action of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT; www.insight-group.org), to,...
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Bioinformatics.
Ano: 2008 URL: http://precedings.nature.com/documents/1784/version/1
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Decoding Sequence Classification Models for Acquiring New Biological Insights Nature Precedings
Ulrich Bodenhofer; Andreas Kothmeier; Ingrid G. Abfalter; Carsten C. Mahrenholz; Sepp Hochreiter.
Classifying biological sequences is one of the most important tasks in computational biology. In the last decade, support vector machines (SVMs) in combination with sequence kernels have emerged as a de-facto standard. These methods are theoretically well-founded, reliable, and provide high-accuracy solutions at low computational cost. However, obtaining a highly accurate classifier is rarely the end of the story in many practical situations. Instead, one often aims to acquire biological knowledge about the principles underlying a given classification task. SVMs with traditional sequence kernels do not offer a straightforward way of accessing this knowledge.

In this contribution, we propose a new approach to analyzing...
Tipo: Poster Palavras-chave: Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4708/version/1
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Improved prediction of protein interaction from microarray data using asymmetric correlation Nature Precedings
Kojiro Yano.
Background:Detection of correlated gene expression is a fundamental process in the characterization of gene functions using microarray data. Commonly used methods such as the Pearson correlation can detect only a fraction of interactions between genes or their products. However, the performance of correlation analysis can be significantly improved either by providing additional biological information or by combining correlation with other techniques that can extract various mathematical or statistical properties of gene expression from microarray data. In this article, I will test the performance of three correlation methods-the Pearson correlation, the rank (Spearman) correlation, and the Mutual Information approach-in detection of protein-protein...
Tipo: Manuscript Palavras-chave: Biotechnology; Genetics & Genomics; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4430/version/1
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A normalization technique for next generation sequencing experiments Nature Precedings
Günter Klambauer; Karin Schwarzbauer; Andreas Mayr; Sepp Hochreiter.
Next generation sequencing (NGS) are these days one of the key technologies in biology. NGS' cost effectiveness and capability of finding the smallest variations in the genome makes them increasingly popular. For studies aiming at genome assembly, differences in read count statistics do not affect the outcome. However, these differences bias the outcome if the goal is to identify structural DNA characteristics like copy number variations (CNVs). Thus a normalization step must removed such random read count variations subsequently read counts from different experiments are comparable. Especially after normalization the commonly used assumption of Poisson read count distribution in windows on the chromosomes is more justified. Strong deviations of...
Tipo: Poster Palavras-chave: Genetics & Genomics; Molecular Cell Biology; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4710/version/1
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Self-organization of intrinsically disordered proteins with folded N-termini Nature Precedings
Philip C. Simister; Fred Schaper; Nicola O'Reilly; Simon McGowan; Stephan M. Feller.
Thousands of human proteins lack recognizable tertiary structure in most of their chains. Here we hypothesize that some use their structured N-terminal domains (SNTDs) to organise the remaining protein chain via intramolecular interactions, generating partially structured proteins. This model has several attractive features: as protein chains emerge, SNTDs form spontaneously and serve as nucleation points, creating more compact shapes. This reduces the risk of protein degradation or aggregation. Moreover, an interspersed pattern of SNTD-docked regions and free loops can coordinate assembly of sub-complexes in defined loop-sections and enables novel regulatory mechanisms, for example through posttranslational modifications of docked regions.
Tipo: Manuscript Palavras-chave: Cancer; Immunology; Molecular Cell Biology; Bioinformatics; Evolutionary Biology.
Ano: 2010 URL: http://precedings.nature.com/documents/5124/version/1
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Organising metabolic networks: cycles in flux distributions Nature Precedings
Maurício V. Kritz; Marcelo T. dos Santos; Sebastián Urrita; Jean-Marc Schwartz.
Metabolic networks are among the most widely studied biological systems. The topology and interconnections of metabolic reactions have been well described for many species, but are not sufficient to understand how their activity is regulated in living organisms. The principles directing the dynamic organisation of reaction fluxes remain poorly understood. Cyclic structures are thought to play a central role in the homeostasis of biological systems and in their resilience to a changing environment. In this work, we investigate the role of fluxes of matter cycling in metabolic networks. First, we introduce a methodology for the computation of cyclic and acyclic fluxes in metabolic networks, adapted from an algorithm initially developed to study cyclic fluxes...
Tipo: Manuscript Palavras-chave: Bioinformatics.
Ano: 2009 URL: http://precedings.nature.com/documents/3932/version/1
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The Latest Information and Perspective of Human Gene and Protein Database (HGPD) as Human Proteome Study Nature Precedings
Yukio Maruyama; Yoshifumi Kawamura; Takao Isogai; Nobuo Nomura; Naoki Goshima.
HGPD ("http://www.HGPD.jp/":http://www.HGPD.jp/) is a unique database that stores information on a set of human Gateway entry clones in addition to protein expression data. HGPD was launched in November 2008 and, since then, 33,275 human Gateway entry clones have been constructed from ORFs of full-length cDNAs, thus representing the largest collection in the world. Sequence information and protein expression of Gateway entry clones can also be retrieved from HGPD. The majority of analysis data for cDNA sequences in HGPD are shared with the FLJ Human cDNA Database ("http://flj.hinv.jp/v01/cgi/index.cgi":http://flj.hinv.jp/v01/cgi/index.cgi), which was constructed as human cDNA sequence analysis database focusing on mRNA...
Tipo: Poster Palavras-chave: Genetics & Genomics; Bioinformatics; Data Standards.
Ano: 2010 URL: http://precedings.nature.com/documents/5070/version/1
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The model of proteolysis Nature Precedings
Piotr Dittwald; Anna Gambin.
This document presents the original approach for estimating parameters of proteolysis process. Data used to fit the model are taken from mass
spectrometric experiments. For parameters estimation the Levenberg-Marquadt algorithm is used. The motivation for model is a hypothesis
that discrimination between cancer patients and healthy donors can be based on activity of peptide cleaving enzymes (i.e. peptidases).
Tipo: Manuscript Palavras-chave: Cancer; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4400/version/1
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Top-down and bottom-up informatics: who has the high ground? Nature Precedings
Vincent S. Smith; Dave Roberts.
Recent years have seen the emergence of several major initiatives supporting the development of biodiversity informatics infrastructures. In Europe examples include: EDIT – the European Distributed Institute of Taxonomy; LifeWatch – a biodiversity analytical platform integrating observatories, databases, processing and computational capacity; and SYNTHESYS – funding researcher access to a network of taxonomic collections, laboratories and libraries. These European projects alone represent a spend of approximately 35 Million Euros, with funding contingent on the collaboration of numerous geographically dispersed institutional partners. In this presentation we will review the major informatics products of these initiatives;...
Tipo: Manuscript Palavras-chave: Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4592/version/1
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Systems Biology Ontology: Update Nature Precedings
Nick Juty.
The Systems Biology Ontology (SBO) is composed of hierarchically arranged sets of controlled vocabularies that are commonly used in mathematical modelling, providing an additional layer of semantic information. We present recent developments in SBO, including the ontology's OBO Foundry status, its relationship to SBGN, and detail some of the restructuring work that has been undertaken.
Tipo: Presentation Palavras-chave: Bioinformatics; Data Standards.
Ano: 2010 URL: http://precedings.nature.com/documents/5121/version/1
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SPARQL Assist Language Neutral Query Composer Nature Precedings
Luke McCarthy; Ben Vandervalk; Mark D. Wilkinson.
SPARQL query composition is difficult for the lay-person or even the experienced bioinformatician in cases where the data model is unfamiliar. Established best-practices and internationalization concerns dictate that semantic web ontologies should use terms with opaque identifiers, further complicating the task. We present SPARQL Assist: a web application that addresses these issues by providing context-sensitive type-ahead completion to existing web forms. Ontological terms are suggested using their labels and descriptions, leveraging existing XML support for internationalization and language-neutrality.
Tipo: Presentation Palavras-chave: Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/5382/version/1
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New checksum functions for Biopython Nature Precedings
Sebastian Bassi; Virginia Gonzalez.
Checksum algorithms are used in biological databases for integrity check and identification purposes. CRC64 is the only checksum algorithm already included in Biopython. This work proposes two new implementation of known algorithms (GCG Checksum and SEGUID). There is also an application based on SEGUID: Looking for redundancy between two FASTA files full of protein sequences based only in sequence information, by comparing the SEGUIDs of both files.
The code is shown in the manuscript and may be available at Biopython.org.
Tipo: Presentation Palavras-chave: Bioinformatics.
Ano: 2007 URL: http://precedings.nature.com/documents/278/version/1
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Aptamer-based multiplexed proteomic technology for biomarker discovery Nature Precedings
Larry Gold; Deborah Ayers; Jennifer Bertino; Christopher Bock; Ashley Bock; Edward N. Brody; Jeff Carter; Virginia Cunningham; Andrew Dalby; Bruce E. Eaton; Tim Fitzwater; Dylan Flather; Ashley Forbes; Trudi Foreman; Cate Fowler; Bharat Gawande; Meredith Goss; Magda Gunn; Shashi Gupta; Dennis Halladay; Jim Heil; Joe Heilig; Brian Hicke; Gregory Husar; Nebojsa Janjic; Thale Jarvis; Susan Jennings; Evaldas Katilius; Tracy R. Keeney; Nancy Kim; Terese Kaske; Tad Koch; Stephan Kraemer; Luke Kroiss; Ngan Le; Daniel Levine; Wes Lindsey; Bridget Lollo; Wes Mayfield; Mike Mehan; Robert Mehler; Michele Nelson; Sally K. Nelson; Dan Nieuwlandt; Malti Nikrad; Urs Ochsner; Rachel M. Ostroff; Matt Otis; Thomas Parker; Steve Pietrasiewicz; Dan Resnicow; John Rohloff; Glenn Sanders; Sarah Sattin; Dan Schneider; Britta Singer; Martin Stanton; Alana Sterkel; Alex Stewart; Suzanne Stratford; Jonathan D. Vaught; Mike Vrkljan; Jeffrey J. Walker; Mike Watrobka; Sheela Waugh; Allison Weiss; Sheri Wilcox; Alexey Wolfson; Steve Wolk; Chi Zhang; Dom Zichi.
Interrogation of the human proteome in a highly multiplexed and efficient manner remains a coveted and challenging goal in biology. We present a new aptamer-based proteomic technology for biomarker discovery capable of simultaneously measuring thousands of proteins from small sample volumes (15 [mu]L of serum or plasma). Our current assay allows us to measure ~800 proteins with very low limits of detection (1 pM average), 7 logs of overall dynamic range, and 5% average coefficient of variation. This technology is enabled by a new generation of aptamers that contain chemically modified nucleotides, which greatly expand the physicochemical diversity of the large randomized nucleic acid libraries from which the aptamers are selected. Proteins in complex...
Tipo: Manuscript Palavras-chave: Biotechnology; Chemistry; Molecular Cell Biology; Bioinformatics.
Ano: 2010 URL: http://precedings.nature.com/documents/4538/version/1
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Novel NIR Spectroscopy Correlation Approach to Amino Acid Analysis of Soybean Proteins for Composition Improvements. (v.3) Nature Precedings
Valentin Prisecaru; I. C. Baianu.
Amino acid NIR calibrations were developed in our Physical Chemistry of Foods Laboratory of the University of Illinois at Urbana for three selected amino acid groups that include essential amino acids for identified soybean accessions. Conventional “wet chemistry” analytical methods are time-consuming and costly. As a result, soybean breeders and researchers have an imperative need to utilize faster and less expensive methods. NIR Spectroscopy is a rapid and inexpensive method for composition analysis for academia and industry. Recent advancements in instrumentation design, such as the application of the Diode Array (DA) technique and the Fourier Transform (FT) IR and NIR techniques, have significantly improved overall instrument...
Tipo: Presentation Palavras-chave: Biotechnology; Chemistry; Developmental Biology; Genetics & Genomics; Immunology; Molecular Cell Biology; Bioinformatics; Earth & Environment; Plant Biology.
Ano: 2011 URL: http://precedings.nature.com/documents/6231/version/3
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Building Block and Building Rule: Dual Descriptor Method for Biological Sequence Analysis Nature Precedings
Bin-Guang Ma.
The emergence of “Systems Biology” in recent years highlights the systematic viewpoint of bio-system modeling. Building on such a background, Dual Descriptor Method, a generic methodology for biological sequence analysis is proposed. From a systematic perspective, Dual Descriptor is defined as a two element set of Composition Weight Map and Position Weight Function which aim at reflecting the composition and permutation information of a sequence. An alternate training algorithm is provided to get an optimum description of the building patterns of the sequences. In this paper, dual descriptor method has been applied to the analysis of two typical problems of molecular biology: gene identification and the prediction of protein function....
Tipo: Manuscript Palavras-chave: Biotechnology; Bioinformatics.
Ano: 2008 URL: http://precedings.nature.com/documents/2223/version/1
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Virtual screening for NS5B inhibitors of Hepatitis C virus Nature Precedings
Amjesh R; Achuthsankar S. Nair; Sugunan V.S..
Hepatitis C Virus (HCV) infection is a serious cause of chronic liver disease worldwide with more than 170 million infected individuals at a risk of developing significant morbidity and mortality. To date there is no effective drug for the treatment or vaccine to prevent this infection. The present study aims to discover novel inhibitors which target an allosteric binding site of RNA dependent RNA polymerase enzyme of HCV. A structure based virtual screening of Zinc database by computational docking and the post docking analysis of energy calculations and interactions followed by ADMET studies were conducted. Our study revealed 10 compounds which has more potential than the existing inhibitor to be considered as lead compounds.

Tipo: Manuscript Palavras-chave: Bioinformatics.
Ano: 2012 URL: http://precedings.nature.com/documents/7055/version/1
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PocketMatch: A new algorithm to compare binding sites in protein structures Nature Precedings
Yeturu Kalidas; Nagasuma Chandra.
Background: Recognizing similarities and deriving relationships among protein molecules is a fundamental
requirement in present-day biology. Similarities can be present at various levels which can be detected through comparison of protein sequences or their structural folds. In some cases similarities obscure at these levels could be present merely in the substructures at their binding sites. Inferring functional similarities between protein molecules by comparing their binding sites is still largely exploratory and not as yet a routine protocol. One of
the main reasons for this is the limitation in the choice of appropriate analytical tools that can compare binding sites with high sensitivity. To benefit from the...
Tipo: Manuscript Palavras-chave: Bioinformatics.
Ano: 2008 URL: http://precedings.nature.com/documents/2142/version/1
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MUEGANO: A divide and conquer algorithm to overcome memory limitations when assembling shotgun projects Nature Precedings
Octavio Martinez; Araceli Fernandez-Cortes.
When assembling a large quantity of reads in a genomic shotgun project a serious limitation is the amount of random access memory (RAM) of the computers used in the project. This arises because all assembling programs must look at all the overlaps between reads at the same time, using RAM in order to construct contigs, and the memory of the computer can be filled up during this step, causing the abortion of the assembling process.
Here we propose an algorithm that is capable of overcoming any memory limitation by using redundancy of processing and thus producing an increase in computing time but overcoming the memory limitation.
The proposed algorithm consists in dividing the reads in a set of groups which size is half the...
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Bioinformatics.
Ano: 2009 URL: http://precedings.nature.com/documents/3712/version/1
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SED-ML Script Language Nature Precedings
Frank Bergmann.
The Simulation Experiment Description Markup Language (SED-ML) is a XML format describing simulation experiments, so that they can be easily exchanged independent of software tools that created them. This document describes the SED-ML Script, a Python based shorthand that makes it easy to create / edit SED-ML documents.
Tipo: Manuscript Palavras-chave: Bioinformatics; Data Standards.
Ano: 2011 URL: http://precedings.nature.com/documents/6105/version/1
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Lengthening of 3'UTR Increases Morphological Complexity in Animal Evolution Nature Precedings
Cho-Yi Chen; Shui-Tein Chen; Hsueh-Fen Juan; Hsuan-Cheng Huang.
By analyzing the structure of mRNA transcripts in multiple metazoan species, we observed a striking exponential correlation between the length of 3' untranslated regions (3'UTR) and morphological complexity as measured by the number of cell types in each organism. Cellular diversity was similarly associated with the accumulation of microRNA genes and their putative targets. We propose that the lengthening of 3'UTRs together with a commensurate expansion in post-transcriptional regulation can contribute to the emergence of new cell types during animal evolution.
Tipo: Manuscript Palavras-chave: Genetics & Genomics; Bioinformatics; Evolutionary Biology.
Ano: 2010 URL: http://precedings.nature.com/documents/4915/version/1
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