1,721,250 research outputs found
The power of numbers
Full text linkThe technical and methodological advancements, as well as the knowledge accrued over the past decade on the haplotype block structure of the human genome, have enabled investigators to tackle the complexity of the genetic architecture of type 2 diabetes in populations of European and non-European descent by performing large-scale genome-wide association studies (GWAS) for both common and rare genetic variants. Interestingly, while interpreting the GWAS results one may observe that as the number of identified type 2 diabetes risk variants has increased over time, and the loci uncovered by earlier GWAS have been further replicated in larger association studies, the individual (per-allele) effect estimate has become smaller than the one originally detected in the discovery GWAS. This may be due to the non-mutually exclusive occurrence of two statistical phenomena, usually dubbed as "winner's curse" and "spectrum bias" effects. The present commentary discusses the work of the China Kadoorie Biobank Collaborative Group, which sought to provide a demonstration of the calculation of (relatively) unbiased allelic effect sizes for a set of 56 established type 2 diabetes risk variants in a large population-based cohort study of Chinese adult individuals. In particular we critically discuss whether theGWAS approach should remain a matter of statistical constraints only, or whether its integration with functional maps may highlight some sub-threshold loci as informative as those that reach genome-wide significance. The complementary information that could arise from the full integration of the genetic and functional maps holds the promise of potentially uncovering clinically relevant mechanistic insights and might expand the regulatory framework in which to interpret the functional follow-up and fine-mapping currently ongoing at established type 2 diabetes risk loci
American Diabetes Association - 75th Scientific Meeting; Section: Epidemiology/Genetics; Poster n. 1788-P: "A Genetic Risk Score of 96 Variants Linked with Type 2 Diabetes and Cardiometabolic Risk Traits Is Associated with Cardiovascular Mortality in 29-Years Follow-up of the Framingham Heart Study (FHS)"
No full textCardiovascular diseases (CVD) are a major cause of death and are often associated
with type 2 diabetes (T2D). Genome-wide studies (GWAS) identifi ed
loci associated with T2D, CVD and traits leading to early death. We investigated
whether these loci in aggregate carry a higher risk of all-cause and CVD
mortality in the FHS. We computed an unweighted genetic risk score (GRS) of
96 variants selected by effect-size within respective GWAS to represent the
top 25% of GWAS variants for the following traits: T2D, coronary artery disease,
myocardial infarction (MI), stroke, sudden cardiac death, heart rate, long
QT-interval, heavy smoking and 15-years all-cause mortality. We used pooled
logistic regressions with genetic-only (GRS adjusted for sex) and full CVD risk
factors adjusted models (sex, age, smoking, prevalent non-fatal CVD) to test
the association of 96-GRS with all-cause and MI/stroke mortality in 3,426 FHS
participants across 29 years follow-up (p<0.025 (p=0.05/2) for signifi cance).
Prevalence of non-fatal CVD, T2D and smoking was 7.5, 6.1 and 26.4% at baseline
and 18.5, 15.9 and 13.2%, respectively, at the beginning of the last period
considered. Cumulative incidence of fatal MI/stroke and all-cause mortality
was 5.1 and 22.5%, respectively. The 96-GRS was associated with MI/stroke
mortality in both genetic-only (OR[95% CI]: 1.04[1.0-1.1], p=0.006) and fully adjusted
model (1.04[1-1.1], p=0.009). Association with all-cause mortality did
not reach our statistical signifi cance criteria (1.01[1-1.03], p=0.029, geneticonly;
1.02[1-1.03], p=0.034, fully adjusted). An aggregate burden of 96 GWAS
variants with the largest effect size on cardiometabolic traits is predictor of
MI/stroke death in longitudinal analysis of a large population of European ancestry.
Further studies need to specify the impact of cardiometabolic disease
genetics on current mortality prediction models.
Supported By: R01DK7861
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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