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‣ Análise do ensino de genética e genômica em cursos de graduação em enfermagem no Brasil; Analysis of genetics and genomics teaching in undergraduate nursing programs in Brazil

Lopes Junior, Luis Carlos
Fonte: Biblioteca Digitais de Teses e Dissertações da USP Publicador: Biblioteca Digitais de Teses e Dissertações da USP
Tipo: Dissertação de Mestrado Formato: application/pdf
Publicado em 25/02/2013 Português
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Após a conclusão do Projeto Genoma Humano, uma quantidade imensurável de conhecimentos genômicos surgiu e, atualmente, se torna essencial sua integração à prática profissional de enfermeiros. Esses conhecimentos vêm transformando o modelo de atenção à saúde, com implicações para a enfermagem e repercussões no ensino, na assistência e na pesquisa. Embora já seja reconhecida a importância da genética e da genômica na educação de enfermeiros, levantamentos realizados em diversos países mostram que esses conteúdos ainda são limitados nos cursos de graduação desses profissionais, sendo desconhecida a situação nas escolas de enfermagem do Brasil. O principal objetivo desse estudo foi identificar as oportunidades existentes de educação em genética e genômica, oferecidas por cursos brasileiros que graduam enfermeiros. Trata-se de pesquisa exploratória, tipo survey, com delineamento transversal e abordagem quantitativa, realizada no período de fevereiro de 2011 a novembro de 2012. A amostra de conveniência compreendeu 311 Instituições de Ensino Superior cadastradas junto ao Ministério da Educação. Após aprovação do Comitê de Ética em Pesquisa, os dados foram coletados por meio de questionário eletrônico...

‣ Integration of Genomics in Cancer Care

Santos, Erika Maria Monteiro; Edwards, Quannetta T.; Floria-Santos, Milena; Rogatto, Silvia Regina; Achatz, Maria Isabel Waddington; MacDonald, Deborah J.
Fonte: Universidade Estadual Paulista Publicador: Universidade Estadual Paulista
Tipo: Artigo de Revista Científica Formato: 43-51
Português
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Purpose: The article aims to introduce nurses to how genetics-genomics is currently integrated into cancer care from prevention to treatment and influencing oncology nursing practice. Organizing Construct: An overview of genetics-genomics is described as it relates to cancer etiology, hereditary cancer syndromes, epigenetics factors, and management of care considerations. Methods: Peer-reviewed literature and expert professional guidelines were reviewed to address concepts of genetics-genomics in cancer care. Findings: Cancer is now known to be heterogeneous at the molecular level, with genetic and genomic factors underlying the etiology of all cancers. Understanding how these factors contribute to the development and treatment of both sporadic and hereditary cancers is important in cancer risk assessment, prevention, diagnosis, treatment, and long-term management and surveillance. Conclusions: Rapidly developing advances in genetics-genomics are changing all aspects of cancer care, with implications for nursing practice. Clinical Relevance: Nurses can educate cancer patients and their families about genetic-genomic advances and advocate for use of evidence-based genetic-genomic practice guidelines to reduce cancer risk and improve outcomes in cancer management. © 2013 Sigma Theta Tau International.

‣ Practicability of comprehensive care in clinical genetics in the brazilian unified health system: expanding the debate

Lopes-Júnior,Luís Carlos; Flória-Santos,Milena; Ferraz,Victor Evangelista de Faria; Villa,Tereza Cristina Scatena; Palha,Pedro Fredemir; Bomfim,Emiliana de Omena; Abrahão,Camila Aparecida; Silva,Sara da
Fonte: Universidade Federal de Santa Catarina, Programa de Pós Graduação em Enfermagem Publicador: Universidade Federal de Santa Catarina, Programa de Pós Graduação em Enfermagem
Tipo: Artigo de Revista Científica Formato: text/html
Publicado em 01/12/2014 Português
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This article aims to highlight the discussions on the National Policy for Comprehensive Care in Clinical Genetics and reflect on its pending regulation when genomic discoveries change the model of health care. Nine of the ten causes of morbidity and mortality worldwide presents genetic/genomic predisposition. Based on strategic planning, this Policy proposes the organization of a network of referral services and specialized centers in genetics, with capacity to meet the needs of the population. Its regulation requires training and qualification of the health care professionals to provide comprehensive care, to optimize access, to identify and diagnose individuals with increased risk for injuries with genetic predisposition early. In primary health care, the care in question should not be interpreted as a specialty, but as specialized. This model presents innovative perspectives, in line with the principles and guidelines of the Unified Health System.

‣ An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK

Kirk, Maggie; Tonkin, Emma; Skirton, Heather
Fonte: John Wiley & Sons Publicador: John Wiley & Sons
Tipo: Artigo de Revista Científica
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KIRK M., TONKIN E. & SKIRTON H. (2014) An iterative consensus-building approach to revising a genetics/genomics competency framework for nurse education in the UK. Journal of Advanced Nursing 70(2), 405–420. doi: 10.1111/jan.12207

‣ Genetics, genomics and metabolomics: new insights into maternal metabolism during pregnancy

Lowe, W. L.; Karban, J.
Fonte: PubMed Publicador: PubMed
Tipo: Artigo de Revista Científica
Publicado em /03/2014 Português
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Maternal glucose metabolism during pregnancy differs from the non-gravid state to allow the mother to meet her own and the growing fetus’s energy needs. New insights into the mechanisms underlying maternal metabolism during pregnancy are being gained through the use of new ‘omics’ technologies. This review focuses on the application of genetics/genomics and metabolomics to the study of maternal metabolism during pregnancy. Following the identification of susceptibility genes for Type 2 diabetes through genome-wide association studies, association has been demonstrated of some Type 2 diabetes susceptibility genes with gestational diabetes mellitus, suggesting that the genetic architecture of Type 2 diabetes and gestational diabetes are, in part, similar. More recent genome-wide association studies examining maternal metabolism during pregnancy have demonstrated overlap of genes associated with metabolic traits in the gravid and non-gravid population, as well as genes that appear to be relatively unique to pregnancy. Metabolomics has also been used to profile the metabolic state of women during pregnancy through the multiplexed measurement of many low molecular weight metabolites. Measurement of amino acids and conventional metabolites have demonstrated changes in mothers with higher insulin resistance and glucose similar to changes in non-gravid...

‣ Comparative Genomics RNAi Screen Identifies Eftud2 as a Novel Regulator of Innate Immunity

De Arras, Lesly; Laws, Rebecca; Leach, Sonia M.; Pontis, Kyle; Freedman, Jonathan H.; Schwartz, David A.; Alper, Scott
Fonte: Genetics Society of America Publicador: Genetics Society of America
Tipo: Artigo de Revista Científica
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The extent of the innate immune response is regulated by many positively and negatively acting signaling proteins. This allows for proper activation of innate immunity to fight infection while ensuring that the response is limited to prevent unwanted complications. Thus mutations in innate immune regulators can lead to immune dysfunction or to inflammatory diseases such as arthritis or atherosclerosis. To identify novel innate immune regulators that could affect infectious or inflammatory disease, we have taken a comparative genomics RNAi screening approach in which we inhibit orthologous genes in the nematode Caenorhabditis elegans and murine macrophages, expecting that genes with evolutionarily conserved function also will regulate innate immunity in humans. Here we report the results of an RNAi screen of approximately half of the C. elegans genome, which led to the identification of many candidate genes that regulate innate immunity in C. elegans and mouse macrophages. One of these novel conserved regulators of innate immunity is the mRNA splicing regulator Eftud2, which we show controls the alternate splicing of the MyD88 innate immunity signaling adaptor to modulate the extent of the innate immune response.

‣ Deterring Illegal Activities in the Fisheries Sector - Genetics, Genomics, Chemistry and Forensics to Fight IUU Fishing and in Support of Fish Product Traceability

MARTINSOHN Jann
Fonte: Publications Office of the European Union Publicador: Publications Office of the European Union
Tipo: Livro Formato: Printed
Português
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Marine fish are a precious natural resource and their exploitation for nutrition and income is deeply embedded in human culture. However, massive fi shing activity, both legal and illegal, has had dramatic impacts, and poses a threat to the future of the fi sheries sector. Virtually 70% of the world’s fish stocks are fully exploited, overexploited or in a state of collapse. European waters are not exempt, with almost 90% of fi sh stocks being overexploited. IUU fi shing (Illegal, Unregulated and Unreported fishing) is vastly contributing to this situation. In 2010, the value of IUU fi shing amounted to 10-20 billion Euros annually, with at least 1.1 billion Euros worth of illegal fish being imported into the European Union every year. Furthermore, fraud along the supply chain with fish products sold under false labels, such as low-cost catfish as valuable sole or cod fillets, poses additional challenges. These illegal activities have severe adverse effects, as they undermine stainable fisheries, cause destruction of marine ecosystems, obstruct socioeconomic development, and impede consumer information and protection. A number of nations have developed strategies to deter and fi ght illegal fishing activities, and numerous countries have adopted the International Plan of Action to prevent...

‣ Center for Public Genomics List of Challenged Claims in Association for Molecular Pathology et al. v. United States Patent and Trademark Office et al.

Center for Public Genomics; Cook-Deegan, Robert Mullan
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Outros
Publicado em //2009 Português
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List of challenged claims in the case, compiled and written by researchers at Duke University's Center for Public Genomics

‣ Panelist Bios for Center for Public Genomics Gene Patent Issue Briefing for Congressional Staff

The Center for Public Genomics at Duke University
Fonte: Universidade Duke Publicador: Universidade Duke
Tipo: Outros
Publicado em 15/09/2011 Português
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Speaker bios, provided as background material for September, 2011 Center for Public Genomics Congressional briefing.

‣ Population genomics of domestic and wild yeasts

David M. Carter; Gianni Liti; Alan M. Moses; Leopold Parts; Stephen A. James; Robert P. Davey; Ian N. Roberts; Anders Blomberg; Jonas Warringer; Austin Burt; Vassiliki Koufopanou; Isheng J. Tsai; Casey M. Bergman; Douda Bensasson; Michael J. T. O'Kel
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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The natural genetics of an organism is determined by the distribution of sequences of its genome. Here we present one- to four-fold, with some deeper, coverage of the genome sequences of over seventy isolates of the domesticated baker's yeast, _Saccharomyces cerevisiae_, and its closest relative, the wild _S. paradoxus_, which has never been associated with human activity. These were collected from numerous geographic locations and sources (including wild, clinical, baking, wine, laboratory and food spoilage). These sequences provide an unprecedented view of the population structure, natural (and artificial) selection and genome evolution in these species. Variation in gene content, SNPs, indels, copy numbers and transposable elements provide insights into the evolution of different lineages. Phenotypic variation broadly correlates with global genome-wide phylogenetic relationships however there is no correlation with source. _S. paradoxus_ populations are well delineated along geographic boundaries while the variation among worldwide _S. cerevisiae_ isolates show less differentiation and is comparable to a single _S. paradoxus_ population. Rather than one or two domestication events leading to the extant baker's yeasts, the population structure of _S. cerevisiae_ shows a few well defined geographically isolated lineages and many different mosaics of these lineages...

‣ Behavioral Genetics and Equality

Dan Brock
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Conferência ou Objeto de Conferência
Português
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I will explore the implications of findings in behavioral genetics for two conceptions of equality: equality of opportunity and the equal moral worth of persons. New findings in behavioral genetics showing that behavioral traits, and the variance in behavioral traits, have some genetic underpinnings would not seem in themselves to threaten either of these notions of equality--we have long known that there is significant variation in these traits across persons and have assumed that some significant portion of that variation has genetic sources. I believe it is the uncertain and probably distant prospect of genetic interventions to enhance some behavioral traits, which could greatly increase the range and inequality of those traits in humans, that may seem to threaten these two notions of equality. I will argue that significant capacities to enhance behavioral traits could indeed threaten and erode equality of opportunity, but that it should not undermine the equal moral worth of persons. To watch my presentation, please see the "Google Video posting":http://video.google.com/videoplay?docid=7235940965176250693&hl=en.

‣ Psychiatric and Behavioral Genetics: A Useful Distinction?

Joachim Hallmayer
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Conferência ou Objeto de Conferência
Português
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Dr. Hallmayer began with a discussion of the Nuffield Council on Bioethics' work on genetics, mental disorders and human behavior. He further explored psychiatric genetics and urged against the oversimplification of dynamic interactions. To watch Dr. Hallmayer’s presentation, please see the "Google Video posting.":http://video.google.com/videoplay?docid=-5387564337084407366&hl=en To watch the deliberative discussion concluding the first Symposium panel, please see the "Google Video posting.":http://video.google.com/videoplay?docid=3871777823134971240&hl=en

‣ Behavioral and Psychiatric Genetics: Learning from History

Kenneth Schaffner
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Conferência ou Objeto de Conferência
Português
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Behavioral and Psychiatric Genetics (BPG) offers great promise for clarifying the causes of both normal behaviors as well as psychiatric disorders, and in the latter case serving as a more rational basis for treatments. But the field has also generated serious social concerns about individual and ethnic stereotyping of intelligence and violent behaviors. This short talk identifies some of these themes from the 1970s, 80s, and 90s, and reviews recent shifts about the directions BPG is taking in the first decade of the twenty-first century. I cover the collapse of simple molecular gene-behavior models in the 1990s, and the rise of gene-environment interaction paradigms, as well as the increasing role of neuroscience in BPG in the present decade. I close by citing molecular-studies that may require we revisit previous historical lessons, now in a molecular genetics-neuroscience context. To watch Dr. Schaffner’s presentation, please see the "Google Video posting.":http://video.google.com/videoplay?docid=-2384504189343195854&hl=en

‣ Psychiatric Genetics: Methods, Findings and Ethical Issues

Kenneth Kendler
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Conferência ou Objeto de Conferência
Português
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This talk has 4 major sections. First, I review the basic definition of a complex trait, especially as it applies to psychiatric disorders. Second, I outline the 4 basic paradigms of psychiatric genetics: simple genetic epidemiology, advanced genetic epidemiology, gene-finding methods and molecular genetics. Third, I review a few basic facts about psychiatric genetics - the level of heritabilities found for most common disorders and the difficulties the field has had in obtaining replicated evidence for single gene effects. Finally, I briefly review three conceptual/philosophical issues that relate to psychiatric genetics: i) why do people become much more concerned in learning about possible genetic influences on personality or risk for depression than genes that influence risk for cancer, atherosclerosis or asthma? ii) how have the results of research in behavioral/Psychiatric Genetics impacted on the sense of Parental Responsibility for psychiatric illness in their offspring. To watch Dr. Kendler’s presentation, please see the "Google Video posting.":http://video.google.com/videoplay?docid=-3261606556062804269&hl=en

‣ Community Outreach through Genomics Education Partnership

Ramana Madupu; Anne G. Rosenwald; A. Malcolm Campbell; Satish C. Bhalla; Granger Sutton
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Poster
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The J Craig Venter Institute (JCVI) has recently partnered with undergraduate university faculty to expand the scope of education and outreach program as part of the NIAID’s BRC initiative, by joining forces with faculty members participating in the Genomics Education Partnership (GEP). The goal of the GEP is to provide opportunities for undergraduate students to participate in genomics research and gain hands on experience. Faculty members trained on annotation methodologies and tools during the Prokaryotic Annotation Workshop conducted at JCVI, impart their knowledge in the classroom as part of the semester course. As a pilot project, we are currently collaborating with 3 groups lead by a faculty member, spread across 3 universities in the community curation of bacterial genomes. Each participating undergraduate group collectively annotates a specific bacterial genome that was sequenced at JCVI and run through the automatic annotation pipeline. Remote access to genome sequence data, pre-computed gene predictions, search results, automatic annotation and bioinformatics analysis is provided through our web-based manual annotation tool, MANATEE. The students log into JCVI genome databases with user specific ids and password and learn to annotate single genes...

‣ Lightning talk: PyPop - a software pipeline for large-scale multilocus population genomics

Alex K. Lancaster; Richard M. Single; Owen D. Solberg; Mark P. Nelson; Glenys Thomson
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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PyPop (Python for Population Genomics) is an open-source framework for performing large-scale population genetic analyses on multilocus genotype and allele frequency data. It computes tests and measures of Hardy-Weinberg equilibrium (locus-level and individual genotype-level), linkage disequilibrum, and selection, and estimates multi-locus haplotypes. PyPop supplements and extends existing population genetic software incorporating them as modules, modified to accommodate highly polymorphic data, rather than reimplementing them from scratch. It facilitates evolutionary analyses by integrating population genetic statistics within and across populations. Originally developed to analyze the highly polymorphic genetic data of the human leukocyte antigen region of the human genome, PyPop has applicability to any kind of multilocus genetic data. It was the primary platform for evolutionary analysis of data collected for a major NIH-funded collaborative grant that included over 30 laboratories and 200 populations (Lancaster et al., 2007a,b). PyPop has also been successfully used in studies by our group, with collaborators, and in publications by many independent research teams in over 70 peer reviewed papers. PyPop deploys a standard Extensible Markup Language (XML) output format and integrates the results of multiple analyses on various populations that were performed at different times into a common output format that can be read into a spreadsheet. The XML output format allows PyPop to be embedded as part of larger analysis pipelines. It also features an Application Programming Interface (API) allowing functionality to be incorporated into other programs. This lightning talk will focus on recent features of PyPop which include the prefiltering of the input genotype data and the ability to translate arbitrary allele names into full amino acid or nucleotide sequences. All code is made available under the terms of the GNU General Public License (GNU GPL): Homepage: http://www.pypop.org/ References: Lancaster...

‣ PhyloCSF: a comparative genomics method to distinguish protein-coding and non-coding regions

Michael F. Lin; Irwin Jungreis; Manolis Kellis
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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As high-throughput transcriptome sequencing provides evidence for novel transcripts in many species, there is a renewed need for accurate methods to classify small genomic regions as protein-coding or non-coding. We present PhyloCSF, a novel comparative genomics method that analyzes a multi-species nucleotide sequence alignment to determine whether it is likely to represent a conserved protein-coding region, based on a formal statistical comparison of phylogenetic codon models. We show that PhyloCSF's classification performance in 12-species _Drosophila_ genome alignments exceeds all other methods we compared in a previous study, and we provide a software implementation for use by the community. We anticipate that this method will be widely applicable as the transcriptomes of many additional species, tissues, and subcellular compartments are sequenced, particularly in the context of ENCODE and modENCODE.

‣ Archon Genomics X PRIZE Validation Protocol

Larry Kedes; Granger Sutton; Edison Liu; Victor Jongeneel
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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This document is a collective assembly of techniques designed to test the quality and accuracy of 100 whole human genome sequences resulting from the $10 Million Archon Genomics X PRIZE (AGXP) competition. The purpose of this article is to enlist constructive criticism from the genomic and genetic community on the outlined approaches. The intent for the final version of this Validation Protocol is to become a useful standard by which to gauge the capabilities of whole genome sequencing technologies that emerge even after 2012.

‣ *100 Semi-supercentenarians and older as a proposed sample set for the Archon Genomics X PRIZE Validation Protocol*

Thomas Perls; Nir Barzilai
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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The "Archon Genomics X PRIZE Validation Protocol":http://precedings.nature.com/documents/5731/version/1 has been posted in part to solicit comments from the scientific community. Here, we suggest 100 subjects age >=105 years as the source of DNAs for the competition.

‣ Genomics and synthetic biology as a viable option to intensify sustainable use of biodiversity

Elibio L. Rech
Fonte: Nature Preceedings Publicador: Nature Preceedings
Tipo: Manuscript
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The Amazon basin is an area of mega-biodiversity. Different models have been proposed^1-8^ for the establishment of an effective conservation policy, increasing sustainability and adding value for biodiversity. Currently, a broad spectrum of technologies from genomics to synthetic biology is available, and these permit the collection, manipulation and effective evaluation of countless organisms, metabolic pathways and molecules that exist as potential products of a large, biodiverse ecosystem. The use of Genomics and synthetic biology may constitute an important tool and be a viable option for the prospection, evaluation and manipulation of biodiversity as advocated as well as be useful for developing methods for sustainable use and the production of novel molecules.