1,720,954 research outputs found

    Exploring the usefulness of microhaplotypes in forensic identification using massive parallel sequencing technology

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    BACKGROUND: Microhaplotypes or microhaps (MH) were recently introduced in the landscape of forensic genetic and appear to be useful for identification purposes, genotyping of degraded DNA, reconstruction of family relationships, ancestry prediction and DNA mixtures deconvolution. In order to make inference about a set of microhaps useful in forensic casework with low amount of degraded DNA and useful in kinship analysis, several microhaps were tested by massive parallel sequencing (MPS) assay. METHODS: We have investigated the effectiveness of 29 microhaps in a set of real forensic samples together with artificially degraded DNAs. Moreover, we explore the informativeness of 87 microhaplotypes in relationship analysis through a simulation of different kinship testing scenarios typically encountered in forensic identification. RESULTS: The MPS coverage analysis showed a good performance of the designed panel. Full profiles could be obtained with 0.1 ng of input DNA even with highly degraded samples. The increment of the number of PCR cycles does not result in an improvement in genotyping results in samples with low amounts of DNA, as the increase of drop-in and drop-out events were observed at 25 number of PCR cycles. No correlation between amplicons size and occurrence of drop-outs and drop-ins was observed. Kinship simulations showed that full siblings and half siblings relationships would be readily distinguished respect unrelated condition using the 87 microhaps panel. CONCLUSIONS: Results shown that microhaps could be a powerful tool for individual identification, relationship resolution and that they are sensitive and reliable in degraded DNA typing

    MicroRNAs as diagnostic biomarkers in cardiovascular diseases that cause sudden cardiac death: comparison between methods used in discovery and validation phases in major research studies

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    INTRODUCTION: MicroRNAs (miRNAs) are a non-coding RNA class of about 22 nucleotides that regulate gene expression by complementarily binding the 3’-untraslated regions of mRNA; thus, causing the inhibition of translation or mRNA degradation. A different expression profile of miRNAs (upregulated or downregulated) could lead to an imbalance in gene expression. EVIDENCE ACQUISITION: In recent years, many studies have focused on miRNAs and their role as biomarkers in diseases with difficult and inconclusive diagnoses. One of the most challenging diagnoses in the forensic field is sudden cardiac death (SCD) diagnosis which still has no comprehensive answers to the causes that determine the death of an apparently healthy subject. EVIDENCE SYNTHESIS: Thus, it could be interesting to study new biomarkers in genetic tests such as miRNAs. We have collected the most interesting studies in literature, focusing on the quantification methods used for the detection and validation of miRNAs with a potential role as biomarkers in arrhythmogenic cardiomyopathy, one of the most frequent pathological causes of SCD. CONCLUSIONS: In this review we will discuss the scientific logical path that starts from a discovery phase, using screening methods to select a group of differentially expressed miRNAs, up to a validation phase, which selects only informative miRNAs with a potential role as biomarkers

    Going Beyond Counting First Authors in Author Co-citation Analysis

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    The present study examines one of the fundamental aspects of author co-citation analysis (ACA) - the way co-citation counts are defined. Co-citation counting provides the data on which all subsequent statistical analyses and mappings are based, and we compare ACA results based on two different types of co-citation counting - the traditional type that only counts the first one among a cited work's authors on the one hand and a non-traditional type that takes into account the first 5 authors of a cited work on the other hand. Results indicate that the picture produced through this non-traditional author co-citation counting contains more coherent author groups and is therefore considerably clearer. However, this picture represents fewer specialties in the research field being studied than that produced through the traditional first-author co-citation counting when the same number of top-ranked authors is selected and analyzed. Reasons for these effects are discussed

    Variations on the Author

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    “Variations on the Author” discusses two of Eduardo Coutinho’s recent films (Um Dia na Vida, from 2010, and Últimas Conversas, posthumously released in 2015) and their contribution to the general question of documentary authorship. The director’s filmography is characterized by a consistent yet self-effacing form of authorial self-inscription: Coutinho often features as an interviewer that rather than express opinions propels discourses; an interviewer that is good at listening. This mode of self-inscription characterizes him as an author who is not expressive but who is nonetheless markedly present on the screen. In Um Dia na Vida, however, Coutinho is completely absent form the image, while Últimas Conversas, on the contrary, includes a confessional prologue that moves the director from the margins to the center of his films. This article examines the ways in which these works stand out in the filmography of a director who offers new insights into the notion of cinematic authorship

    Appropriate Similarity Measures for Author Cocitation Analysis

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    We provide a number of new insights into the methodological discussion about author cocitation analysis. We first argue that the use of the Pearson correlation for measuring the similarity between authors’ cocitation profiles is not very satisfactory. We then discuss what kind of similarity measures may be used as an alternative to the Pearson correlation. We consider three similarity measures in particular. One is the well-known cosine. The other two similarity measures have not been used before in the bibliometric literature. Finally, we show by means of an example that our findings have a high practical relevance.information science;Pearson correlation;cosine;similarity measure;author cocitation analysis

    Dispelling the Myths Behind First-author Citation Counts

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    We conducted a full-scale evaluative citation analysis study of scholars in the XML research field to explore just how different from each other author rankings resulting from different citation counting methods actually are, and to demonstrate the capability of emerging data and tools on the Web in supporting more realistic citation counting methods. Our results contest some common arguments for the continued use of first-author citation counts in the evaluation of scholars, such as high correlations between author rankings by first-author citation counts and other citation counting methods, and high costs of using more realistic citation counting methods that are not well-supported by the ISI databases. It is argued that increasingly available digital full text research papers make it possible for citation analysis studies to go beyond what the ISI databases have directly supported and to employ more sophisticated methods

    Author Index

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    koamabayili/VECTRON-author-checklist: VECTRON author checklist

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    We have done our best to complete the author checklist relating to the use of animals in the hut study. Note that the objective for the hut study was to evaluate the IRS treatment applications for residual efficacy against Anopheles mosquitoes, including the local An. coluzzii mosquito population. Cows were only used to attract mosquitoes into the huts and no tests were carried out directly on the cows. The author checklist is intended for use with studies where experiments are carried out on animals, which is why we have had such difficulty in completing this for the hut study, as many of the questions do not relate to how the cows were used
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