1,721,139 research outputs found

    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

    A population-based approach for gene prioritization in understanding complex traits

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    Gene prioritization is the process of determining which variants and genes identified in genetic analyses are likely to cause a disease or a variation in a phenotype. For many genes, neither in vitro nor in vivo testing is available, thus assessing their pathogenic role could be challenging, leading to false-positive or false-negative results. In this paper, we propose an innovative score of gene prioritization based on the population of interest. We introduce the concept of singleton-cohort variants (SC variant), a variant that has allele count equal to one in the cohort under study. The difference between the normalized count of SC variants in the coding region and the normalized count of SC variants in the non-coding region should give a hint regarding the level of constraints for that gene in a specific population. This scoring system is negative when there are constraints that allow the presence of SC variants only in the non-coding region; on the contrary, it is positive when there are no constraints. A complimentary score is the sum of SC variants normalized count in both coding and non-coding regions, which could be used as a proxy of positive or strong purifying selection in a specific population. Our methodology showed a high level of constraining for genes such as USP34 in all subpopulations tested (1000 G dataset). In contrast, some genes showed a high negative score only in specific populations, e.g., MYT1L in Europeans, UBR5 in East Asians, and FBXO11 in Africans

    Eating disinhibition and food liking are influenced by variants in CAV1 (caveolin 1) gene

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    Eating behavior is influenced by a combination of environmental and genetic factors. Although candidate gene studies have been conducted, much remains to be understood about genetic influences. Therefore, we conducted a Genome-Wide Association Study (GWAS) aims to identify new variants that influence eating disinhibition. Moreover, we test the possible association of these variants with food liking and metabolic phenotypes.We measured disinhibition in two cohorts of Italian samples using three selected statements from the Three Factor Eating Questionnaire. Personal and clinical data were collected, as well as liking for different foods and beverages. GWAS was carried out in 1124 individuals; then the best signals (p-value < 1 x 10(-5)) were studied for replication in 426 independents participants. To study the link of eating disinhibition and associated variants with food liking and metabolic traits, we used linear mixed models and Structural Equation Modeling (SEM).A significant association with CAV1 (caveolin 1) gene (p < 5 x 10(-8)) was identified. The top SNP (rs6961694) resulted also associated with the liking for sweet foods and alcoholic beverages (p-value < 0.05). Moreover, we observed significant eQTL associations between this SNP and CAV1 expression levels in human tissues such as adipose subcutaneous tissue, pancreas and brain hippocampus (p-value = 0.00022, 0.00015 and 0.017, respectively). Although higher values of BMI, waist, hips and triglycerides were significantly associated with increasing eating disinhibition (p-value < 0.05), no association emerged between the rs6961694 SNP and anthropometric or lipids phenotypes.In conclusion, we describe a significant association between eating traits and CAV1 gene, providing new knowledge on the link existing between genetics, eating behaviour and health status
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