5,515 research outputs found

    A broad overview of genotype imputation: Standard guidelines, approaches, and future investigations in genomic association studies

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    The advent of genomic big data and the statistical need for reaching significant results have led genome-wide association studies to be ravenous of a huge number of genetic markers scattered along the whole genome. Since its very beginning, the so-called genotype imputation served this purpose; this statistical and inferential procedure based on a known reference panel opened the theoretical possibility to extend association analyses to a greater number of polymorphic sites which have not been previously assayed by the used technology. In this review, we present a broad overview of the genotype imputation process, showing the most known methods and presenting the main areas of interest, with a closer look to the most up-to-date approaches and a deeper understanding of its usage in the present-day genomic landscape, shedding a light on its future developments and investigation areas

    Diskussion mit Cristina Morales

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    Invitation to an informal lunch talk with the the seventeenth Friedrich Dürrenmatt Guest Professor, the Spanish author and activist Cristina Morales. We will prepare soups with bread and hope for lively discussions and food for thought

    Cristina Bautista, colombiana e indígena, lideresa social y tejedora de pensamiento y comunidad / Cristina Bautista, a Colombian and indigenous social leader, community thinker, and weaver of thoughts

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    This is a tribute to&#160;activist,&#160;Cristina Bautista&#160;in Colombia. She was an indigenous woman working on the rights of women in her community and on land rights. The author traces Cristina&#39;s life and the&#160;Hilando pensamientos (Weaving Thoughts), the Nasa women&#39;s movement. Her activism was powerful, and Cristina was killed in 2019 by armed actors.&#160; </html

    ‘La casa de la escritura’: entrevista con Cristina Siscar Buenos Aires, 13 de marzo 2009

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    This is an interview with the Argentinian author, Cristina Siscar

    "A Stony Language: Zukofsky's Zadkine", in The Idea and The Thing in Modernist American Poetry (editor Cristina Giorcelli) - "Preface" to The Idea and The Thing in Modernist American Poetry (ed. Cristina Giorcelli).

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    In the "Preface" -- the editor and author of an essay-- Cristina Giorcelli explains how, thanks to Heidegger's, Schopenhauer's and Wittgenstein's categories, Modernist American poets gave visual, phonetic, and iconic relevance and, thus, "concreteness" to language in order, on the one hand, to avoid Romantic sentimentalism and Symbolic conventionalism, and, on the other, to enhance the word's semantics and polyhedrical value. The volume is eminently interdisciplinary in that poetry is studied in relation to: philosophy, the visual arts, history, and the world of classic myth. In her essay (pp.109-139) on "A Stony Language: Zukofsky's Zadkine," Cristina Giorcelli examines a long composition by the "objectivist" poet, Louis Zukofsky who -- at a crucial time in his highly innovative career -- wrote an ekphrasis centered on a sculpture by the Russian expatriate and political refugee in the United States, Ossip Zadkine, entitled "La Prisonniere." The poem has never been examined before. The essay is a close, learned analysis of the way in which Zadkine's sculpture -- with its distortions and reversals, its cleavages, and its spatial-dynamic relationship between mass and volume -- is rendered by Zukofsky's words, rhymes, rhythm, etymological and cross-linguistic puns, metonymies, anagrams, echoes, and mythological references. Furthermore, while this analysis traces Zadkine's tie to Vladimir Tatlin's aesthetics, it illustrates Zukofsky's bond to Apollinaire, James Joyce, and Gertrude Stein, while also showing Zukofsky's extraordinary and long lasting originality and impact on contemporary poets (paramount among them, the so called L=A=N=G=U=A=G=E Poets)

    BOOK REVIEW ON ELEMENTS OF URBANISM; AUTHOR: ALPOPI CRISTINA

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    In september 2008 has been published at Universitaria Publishing House of Bucharest, Romania, the book "Elements of Urbanism", written by Cristina Alpopi. Cristina Alpopi, Associate Professor at Academy of Economic Studies, Bucharest, Romania, is a dedicated researcher and a prolific author of articles and papers in the field of Urbanism. The book contains 8 chapters very rich in concepts, theories, ideas, representing a contribution to the development of the literature in the field of urbanism.

    Genetic and Non-Genetic Contributions to Eosinophilic Granulomatosis with Polyangiitis: Current Knowledge and Future Perspectives

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    In this work, we present a comprehensive overview of the genetic and non-genetic complexity of eosinophilic granulomatosis with polyangiitis (EGPA). EGPA is a rare complex systemic disease that occurs in people presenting with severe asthma and high eosinophilia. After briefly introducing EGPA and its relationship with the anti-neutrophil cytoplasmic autoantibodies (ANCA)-associated vasculitis (AAVs), we delve into the complexity of this disease. At first, the two main biological actors, ANCA and eosinophils, are presented. Biological and clinical phenotypes related to ANCA positivity or negativity are explained, as well as the role of eosinophils and their pathological subtypes, pointing out their intricate relations with EGPA. Then, the genetics of EGPA are described, providing an overview of the research effort to unravel them. Candidate gene studies have investigated biologically relevant candidate genes; the more recent genome-wide association studies and meta-analyses, able to analyze the whole genome, have confirmed previous associations and discovered novel risk loci; in the end, family-based studies have dissected the contribution of rare variants and the heritability of EGPA. Then, we briefly present the environmental contribution to EGPA, reporting seasonal events and pollutants as triggering factors. In the end, the latest omic research is discussed and the most recent epigenomic, transcriptomic and microbiome studies are presented, highlighting the current challenges, open questions and suggesting approaches to unraveling this complex disease

    Mobilome analysis of Achromobacter spp. isolates from chronic and occasional lung infection in cystic fibrosis patients

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    Achromobacter spp. is an opportunistic pathogen that can cause lung infections in patients with cystic fibrosis (CF). Although a variety of mobile genetic elements (MGEs) carrying antimicrobial resistance genes have been identified in clinical isolates, little is known about the contribution of Achromobacter spp. mobilome to its pathogenicity. To provide new insights, we performed bioinformatic analyses of 54 whole genome sequences and investigated the presence of phages, insertion sequences (ISs), and integrative and conjugative elements (ICEs). Most of the detected phages were previously described in other pathogens and carried type II toxin-antitoxin systems as well as other pathogenic genes. Interestingly, the partial sequence of phage Bcep176 was found in all the analyzed Achromobacter xylosoxidans genome sequences, suggesting the integration of this phage in an ancestor strain. A wide variety of IS was also identified either inside of or in proximity to pathogenicity islands. Finally, ICEs carrying pathogenic genes were found to be widespread among our isolates and seemed to be involved in transfer events within the CF lung. These results highlight the contribution of MGEs to the pathogenicity of Achromobacter species, their potential to become antimicrobial targets, and the need for further studies to better elucidate their clinical impact

    Resistome, mobilome and virulome analysis of shewanella algae and vibrio spp. Strains isolated in italian aquaculture centers

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    Antimicrobial resistance is a major public health concern restricted not only to healthcare settings but also to veterinary and environmental ones. In this study, we analyzed, by whole genome sequencing (WGS) the resistome, mobilome and virulome of 12 multidrug-resistant (MDR) marine strains belonging to Shewanellaceae and Vibrionaceae families collected at aquaculture centers in Italy. The results evidenced the presence of several resistance mechanisms including enzyme and efflux pump systems conferring resistance to beta-lactams, quinolones, tetracyclines, macrolides, polymyxins, chloramphenicol, fosfomycin, erythromycin, detergents and heavy metals. Mobilome analysis did not find circular elements but class I integrons, integrative and conjugative element (ICE) associated modules, prophages and different insertion sequence (IS) family transposases. These mobile genetic elements (MGEs) are usually present in other aquatic bacteria but also in Enterobacteriaceae suggesting their transferability among autochthonous and allochthonous bacteria of the resilient microbiota. Regarding the presence of virulence factors, hemolytic activity was detected both in the Shewanella algae and in Vibrio spp. strains. To conclude, these data indicate the role as a reservoir of resistance and virulence genes in the environment of the aquatic microbiota present in the examined Italian fish farms that potentially might be transferred to bacteria of medical interest

    Cristina Eisenberg

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    Mark Madison interviews author and conservation biologist Cristina Eisenberg about her forthcoming book The Carnivore Way. Eisenberg is studying six large predators of the American West--ranging from grizzlies to wolverines-- and suggesting ways to help bring back these species. Cristina Eisenberg is a conservation biologist at Oregon State University, College of Forestry, and Boone and Crockett Fellow. Her first book was The Wolf's Tooth: Keystone Predators, Trophic Cascades, and Biodiversity
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