1,721,002 research outputs found
MAPPING BCR-ABL1 FUSION POINTS IN CHRONIC MYELOID LEUKEMIA BY NEXT GENERATION SEQUENCING
Chronic myeloid leukemia (CML) is a myeloproliferative disorder cytogenetically characterized by a reciprocal translocation between the long arms of chromosome 9 and 22 t(9;22) that leads to the formation of the BCR-ABL1 fusion gene, coding for a deregulated tyrosine kinase with oncogenic activity. In clinical routine, mRNA amount of the chimeric transcript is considered proportional to the leukemic clone and is used for the molecular monitoring of patients. However, qRT-PCR cannot identify transcriptionally silent leukemic cells that can be present in minimal residual disease (MRD). To monitor MRD it is necessary to develop a qPCR assay on DNA sequences spanning BCR-ABL1, that are patient specific. Previous results obtained by Prof. G. Porta’s group (unpublished) have demonstrated that DNA detection is positive while mRNA is not in 30% of time points, indicating the presence of transcriptionally silent cells. Breakpoints in these patients were characterized by laborious long-range PCR and cloning not suitable for a clinical application. To overcome this limiting step we set up a DNA capturing assay to target all kind of breakpoints that give rise to different BCR-ABL1 transcripts. Captured regions were then sequenced with a next generation protocol. The idea was to use the identified patient specific breakpoints to setup qPCR assays to monitor MRD. We successfully identified BCR-ABL1 fusion points in 9 over 10 samples, with single nucleotide accuracy, by setting up a bioinformatics workflow specifically developed for this purpose. All findings were validated with Sanger sequencing. This project was performed in collaboration with Prof. Giovanni Porta of University of Insubria
Going Beyond Counting First Authors in Author Co-citation Analysis
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
“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
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
Pharmacogenomics considerations in the control of hypertension
The response to antihypertensive therapy is very heterogeneous and the need by the physicians to account for it has driven much interest in pharmacogenomics of antihypertensive drugs. The Human Genome Project and the initiatives in genomics that followed, generated a huge number of genetic data that furnished the tools to explore the genotype-phenotype association in candidate genes and at genome-wide level. In spite of the efforts and the great number of publications, pharmacogenomics of antihypertensive drugs is far from being used in clinical practice. In this review, we analyze the main findings available in PubMed from 2010 to 2015, in relation to the major classes of antihypertensive drugs. We also describe a new Phase II drug that targets two specific hypertension predisposing mechanisms
Dispelling the Myths Behind First-author Citation Counts
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
koamabayili/VECTRON-author-checklist: VECTRON author checklist
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
Author-wise bibliometric analysis based on entropy.
Author-wise bibliometric analysis based on entropy.</p
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