1,720,991 research outputs found
NEXT-GENERATION SEQUENCING APPROACH FOR IDENTIFICATION OF CANDIDATE GENES IN ARRHYTHMOGENIC DISEASES
Full text linkRecent advances in genome sequencing technologies provided unexpected opportunities to characterize individual genomic landscape and identify mutations relevant for diagnosis and therapy in clinics. Specifically, whole-exome sequencing for complex disease (such as tumor/normal matched sample) and target resequencing for Mendelian disease, using next-generation sequencing (NGS) technologies, are gaining popularity in the human genetics community due to the moderate costs and the huge quantity of information provided by each experiment. However, NGS data analysis still remains the crucial bottleneck in this approach because of the great amount of data containing millions of potential disease-causing variants and difficulties involving the integration of different sources.
Here, we describe the application of a bioinformatics analysis pipeline for NGS data in two case studies about rare cardiac diseases. The case 1 is focused on the target sequencing of 158 candidate genes in 91 patients affected by Brugada Syndrome (BrS). To date the clinical phenotype is associated with mutations in the SCN5A gene but explain only the 30% of the BrS cases. Therefore we selected a panel of genes previously associated to cases of arrhythmogenic disorders in literature and we analysed them in a cohort of BrS patients, which were negative for known SCN5A mutations. We found 98 novel genetic variations and 60 clinical rs belonging to 70 genes. In particular we found 13 genes significantly mutated in our cohort compared to healthy controls in 1000 Genomes data that were not previously associated to BrS phenotype.
In case study 2 we performed a whole-exome sequencing experiment of trio family where the child is affected by a severe cardiac disease with unclear diagnosis. We developed a specific bioinformatics pipeline to filter out the germline mutations. We found six genes with novel deleterious mutations that were homozygous in the affected child, and heterozygous in both parents. Among the six mutated genes the TRDN and UNC45A genes were already associated to cardiac dysfunctions in literature. Functional studies will be performed to evaluate the involvement of the mutated genes in the disease onset.
In conclusion, we developed an automatic and versatile pipeline to analyse NGS data coming from whole-exome sequencing and target sequencing strategies. In addition, we integrated in the pipeline several public variation databases to evaluate and interpret the candidate mutations. The mutations found were validated by Sanger sequencing to evaluate the strength of the pipeline filters
Percezione del rischio e stili educativi nella prevenzione degli incidenti stradali in adolescenza
No full textNell'ambito delle attività di prevenzione degli incidenti stradali è stata condotta una ricerca in tre scuole medie inferiori della Toscana che ha coinvolto 271 studenti, M e F, ai quali sono stati somministrati: 1)il Physical Risk Assessment Inventory (PRAI) il questionario di stili educativi di Bonino et al. (2003) un questionario sugli incidenti stadali e un compito di narratibvo con la consegna "Ricorda quella volta che hai corso un grosso rischio". Gli adolescenti intervistati valutano i comportamenti legati a stili di vita scorretti come più rischiosi delle attività sportive e la percezione della gravità del rischio tende a decrescere con l'età. Gli studenti con genitori autoritari e permissivi sottostimano il rischio rispetto a quelli con genitori utorevoli. L'esperienza personale di un incidente e lo stile educativo autorevole dei genitori, incrementando la valutazione del rischio, sembrano configurarsi come fattori protettivi
Going Beyond Counting First Authors in Author Co-citation Analysis
Full text linkThe 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
Full text link“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
Full text linkWe 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
Full text linkWe 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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
No full textWe 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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