201 research outputs found

    Major submissions tool developments at the European nucleotide archive

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    The European Nucleotide Archive (ENA; http://www.ebi.ac.uk/ena), Europe's primary nucleotide sequence resource, captures and presents globally comprehensive nucleic acid sequence and associated information. Covering the spectrum from raw data to assembled and functionally annotated genomes, the ENA has witnessed a dramatic growth resulting from advances in sequencing technology and ever broadening application of the methodology. During 2011, we have continued to operate and extend the broad range of ENA services. In particular, we have released major new functionality in our interactive web submission system, Webin, through developments in template-based submissions for annotated sequences and support for raw next-generation sequence read submissions

    htsget: a protocol for securely streaming genomic data

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    Summary: Standardized interfaces for efficiently accessing high-throughput sequencing data are a fundamental requirement for large-scale genomic data sharing. We have developed htsget, a protocol for secure, efficient and reliable access to sequencing read and variation data. We demonstrate four independent client and server implementations, and the results of a comprehensive interoperability demonstration. Availability and implementation: http://samtools.github.io/hts-specs/htsget.html Supplementary information: Supplementary data are available at Bioinformatics online

    Demographic and occupational predictors of early response to a mailed invitation to enroll in a longitudinal health study

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    BACKGROUND: Often in survey research, subsets of the population invited to complete the survey do not respond in a timely manner and valuable resources are expended in recontact efforts. Various methods of improving response have been offered, such as reducing questionnaire length, offering incentives, and utilizing reminders; however, these methods can be costly. Utilizing characteristics of early responders (refusal or consent) in enrollment and recontact efforts may be a unique and cost-effective approach for improving the quality of epidemiologic research. METHODS: To better understand early responders of any kind, we compared the characteristics of individuals who explicitly refused, consented, or did not respond within 2 months from the start of enrollment into a large cohort study of US military personnel. A multivariate polychotomous logistic regression model was used to estimate the effect of each covariate on the odds of early refusal and on the odds of early consent versus late/non-response, while simultaneously adjusting for all other variables in the model. RESULTS: From regression analyses, we found many similarities between early refusers and early consenters. Factors associated with both early refusal and early consent included older age, higher education, White race/ethnicity, Reserve/Guard affiliation, and certain information technology and support occupations. CONCLUSION: These data suggest that early refusers may differ from late/non-responders, and that certain characteristics are associated with both early refusal and early consent to participate. Structured recruitment efforts that utilize these differences may achieve early response, thereby reducing mail costs and the use of valuable resources in subsequent contact efforts

    Are Happiness and Life Satisfaction Different Across Religious groups? Exploring Determinants of Happiness and Life Satisfaction

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    This study explores whether different religions experience different levels of happiness and life satisfaction and in case this is affected by country economic and cultural environment. Using World Value Survey (from 1981 to 2014), this study found that individual religiosity and country level of development play a significant role in shaping people’s subjective well-being (SWB). Protestants, Buddhists and Roman Catholic were happier and most satisfied with their lives compared to other religious groups. Orthodox has the lowest SWB. Health status, household’s financial satisfaction and freedom of choice are means by which religious groups and governments across the globe can improve the SWB of their citizens. Keywords: happiness; life satisfaction; religion; religious differences; cultur

    The Regulation of Skeletal Muscle Protein Turnover during the Progression of Cancer Cachexia in the ApcMin/+ Mouse

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    Muscle wasting that occurs with cancer cachexia is caused by an imbalance in the rates of muscle protein synthesis and degradation. The ApcMin/+ mouse is a model of colorectal cancer that develops cachexia that is dependent on circulating IL-6. However, the IL-6 regulation of muscle protein turnover during the initiation and progression of cachexia in the ApcMin/+ mouse is not known. Cachexia progression was studied in ApcMin/+ mice that were either weight stable (WS) or had initial (≤5%), intermediate (6–19%), or extreme (≥20%) body weight loss. The initiation of cachexia reduced %MPS 19% and a further ∼50% with additional weight loss. Muscle IGF-1 mRNA expression and mTOR targets were suppressed with the progression of body weight loss, while muscle AMPK phosphorylation (Thr 172), AMPK activity, and raptor phosphorylation (Ser 792) were not increased with the initiation of weight loss, but were induced as cachexia progressed. ATP dependent protein degradation increased during the initiation and progression of cachexia. However, ATP independent protein degradation was not increased until cachexia had progressed beyond the initial phase. IL-6 receptor antibody administration prevented body weight loss and suppressed muscle protein degradation, without any effect on muscle %MPS or IGF-1 associated signaling. In summary, the %MPS reduction during the initiation of cachexia is associated with IGF-1/mTOR signaling repression, while muscle AMPK activation and activation of ATP independent protein degradation occur later in the progression of cachexia. IL-6 receptor antibody treatment blocked cachexia progression through the suppression of muscle protein degradation, while not rescuing the suppression of muscle protein synthesis. Attenuation of IL-6 signaling was effective in blocking the progression of cachexia, but not sufficient to reverse the process

    Policy challenges for the pediatric rheumatology workforce: Part II. Health care system delivery and workforce supply

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    The United States pediatric population with chronic health conditions is expanding. Currently, this demographic comprises 12-18% of the American child and youth population. Affected children often receive fragmented, uncoordinated care. Overall, the American health care delivery system produces modest outcomes for this population. Poor, uninsured and minority children may be at increased risk for inferior coordination of services. Further, the United States health care delivery system is primarily organized for the diagnosis and treatment of acute conditions. For pediatric patients with chronic health conditions, the typical acute problem-oriented visit actually serves as a barrier to care. The biomedical model of patient education prevails, characterized by unilateral transfer of medical information. However, the evidence basis for improvement in disease outcomes supports the use of the chronic care model, initially proposed by Dr. Edward Wagner. Six inter-related elements distinguish the success of the chronic care model, which include self-management support and care coordination by a prepared, proactive team

    Global proteome changes in the rat diaphragm induced by endurance exercise training

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    Mechanical ventilation (MV) is a life-saving intervention for many critically ill patients. Unfor- tunately, prolonged MV results in the rapid development of diaphragmatic atrophy and weakness. Importantly, endurance exercise training results in a diaphragmatic phenotype that is protected against ventilator-induced diaphragmatic atrophy and weakness. The mechanisms responsible for this exercise-induced protection against ventilator-induced dia- phragmatic atrophy remain unknown. Therefore, to investigate exercise-induced changes in diaphragm muscle proteins, we compared the diaphragmatic proteome from sedentary and exercise-trained rats. Specifically, using label-free liquid chromatography-mass spectrome- try, we performed a proteomics analysis of both soluble proteins and mitochondrial proteins isolated from diaphragm muscle. The total number of diaphragm proteins profiled in the sol- uble protein fraction and mitochondrial protein fraction were 813 and 732, respectively. Endurance exercise training significantly (P<0.05, FDR <10%) altered the abundance of 70 proteins in the soluble diaphragm proteome and 25 proteins of the mitochondrial proteome. In particular, key cytoprotective proteins that increased in relative abundance following exer- cise training included mitochondrial fission process 1 (Mtfp1; MTP18), 3-mercaptopyruvate sulfurtransferase (3MPST), microsomal glutathione S-transferase 3 (Mgst3; GST-III), and heat shock protein 70 kDa protein 1A/1B (HSP70). While these proteins are known to be cytoprotective in several cell types, the cyto-protective roles of these proteins have yet to be fully elucidated in diaphragm muscle fibers. Based upon these important findings, future experiments can now determine which of these diaphragmatic proteins are sufficient and/or required to promote exercise-induced protection against inactivity-induced muscle atrophy
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