1,721,316 research outputs found
Clinical implications of VUS reclassification in a single-centre series from application of ACMG/AMP classification rules specified for BRCA1/2
Full text linkBackground: BRCA1/2 testing is crucial to guide clinical decisions in patients with hereditary breast/ovarian cancer, but detection of variants of uncertain significance (VUSs) prevents proper management of carriers. The ENIGMA (Evidence-based Network for the Interpretation of Germline Mutant Alleles) BRCA1/2 Variant Curation Expert Panel (VCEP) has recently developed BRCA1/2 variant classification guidelines consistent with ClinGen processes, specified against the ACMG/AMP (American College of Medical Genetics and Genomics/Association for Molecular-Pathology) classification framework. Methods: The ClinGen-approved BRCA1/2-specified ACMG/AMP classification guidelines were applied to BRCA1/2 VUSs identified from 2011 to 2022 in a series of patients, retrieving information from the VCEP documentation, public databases, literature and ENIGMA unpublished data. Then, we critically re-evaluated carrier families based on new results and checked consistency of updated classification with main sources for clinical interpretation of BRCA1/2 variants. Results: Among 166 VUSs detected in 231 index cases, 135 (81.3%) found in 197 index cases were classified by applying BRCA1/2-specified ACMG/AMP criteria: 128 (94.8%) as Benign/Likely Benign and 7 (5.2%) as Pathogenic/Likely Pathogenic. The average time from the first report as 'VUS' to classification using this approach was 49.4 months. Considering that 15 of these variants found in 64 families had already been internally reclassified prior to this work, this study provided 121 new reclassifications among the 151 (80.1%) remaining VUSs, relevant to 133/167 (79.6%) families. Conclusions: These results demonstrated the effectiveness of new BRCA1/2 ACMG/AMP classification guidelines for VUS classification within a clinical cohort, and their important clinical impact. Furthermore, they suggested a cadence of no more than 3 years for regular review of VUSs, which however requires time, expertise and resources
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
Y-specific restriction fragment length polymorphisms In Southern African populations.
Full text linkA thesis submitted to the Faculty of Medicine University of the Witwatersrand, Johannesburg fulfilment of the requirements for the degree of PhilosophySeven Y chromosome probes and thirteen restriction enzyme digests were used to examine a conservative estimate of 20000bp, and no new Y-specific polymorphisms were revealed by these systems. The Y chromosome probe 49a, which reveals a Y-specific haplotype with TaqI, was shown to reveal five new complex polymorphisms with Bglll, Hindlll, Pst I, PvuII and Sstl. The new polymorphisms exhibit great genetic diversity, and each enzyme reveals numerous haplotypes, which mostly occur infrequently and are population-specific. The haplotypes for a given enzyme do not correlate strictly with those revealed by the other enzymes, including TaqI, suggesting that each polymorphism results from a combination of restriction site mutations and rearrangement events. Association between the different 49a polymorphisms occurs only in individuals of recent common genetic origin.
Y-specific 49a/TagI haplotypes were determined for 933 individuals drawn from 23 different African populations. A total of 31 new haplotypes were observed, some of which contained new alleles or allelic variants. Duplication, in addition to CpG mutation, is implicated in the generation of certain allelic variants. Cluster analysis of genetic distances
between populations was calculated using the 49a/TagI haplotype frequencies. Y-specific 49a/TagI haplotype analysis of individual populations was not sufficiently sensitive to accurately distinguish between the different Bantu-speaking Negroid tribal groups. Cluster analysis of larger groupings was more stable, and with the exception of the Khoisan, resulted in a basic split between African and non-African populations.
The linkage disequilibrium of the XY275 MspI Y-linked polymorphism was determined. The high allele was generally found in association with the Y chromosome, but the Y-associated low allele was found to occur in Bantu-speaking Negroids, Khoisan-speaking Negroids, the Khoisan, two groups of mixed ancestry, and the Caucasoid South African Asiatic Indian population. The discovery of Y-associated low alleles in non-African as well as African populations suggests that more than one Y chromosome gave rise to the present-day non-African population.
The pDP31/EcoRI, p21Al/TagI and Y Alu polymorphisms were also studied in several southern African populations. The pDP31 duplication occurred at high frequencies in Caucasoids, and could be used to indicate Caucasoid male gene flow into hybrid populations. The p21Al/TagI point mutation showed no
distinct trends in frequency in the different populations, and several Taql mutations are proposed to have occurred in the repeat unit recognized by this sequence. The Y Alu polymorphism occurred infrequently in Caucasoids, at intermediate frequency in the Khoisan, and at high frequency in Negroids. The presence of the Y Alu insertion in all three major population groups studied is interpreted to suggest that the insert predates the diversification of Homo sapiens.
The relationship between the different Y-linked polymorphisms was determined in the populations studied. The Y Alu polymorphism is believed to have originated once from sequencing data, but such information is not available for the other Y polymorphisms studied. No absolute relationship was observed between the Y Alu polymorphism and the 49a/TagI, XY275 Mspl, pDP31/£coRI and p21Al/TagI polymorphisms. It is suggested that the latter polymorphisms have arisen more than once.WHSLYP201
Author-wise bibliometric analysis based on entropy.
No full textAuthor-wise bibliometric analysis based on entropy.</p
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