1,721,068 research outputs found
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
A brief note about genetic variation
No full textNon UBCUnreviewedAuthor affiliation: Johns Hopkins UniversityFacult
Detection of de novo copy number deletions from targeted sequencing of trios
No full textDe novo copy number deletions have been implicated in many diseases, but no formal methods existed that identify de novo deletions in parent-offspring trios from capture-based sequencing platforms. We developed Minimum Distance for Targeted Sequencing (MDTS) to fill this void. MDTS has similar sensitivity (recall), but a much lower false positive rate compared to less specific CNV callers, resulting in a much higher positive predictive value (precision). MDTS also exhibited much better scalability. We applied our method to 1,305 case-parent trios with targeted sequencing data of regions previously implicated in oral cleft. Across the 6.3Mb of capture, we detected one de novo deletion in gene TRAF3IP3, in addition to one rare inherited deletion and 2 copy number polymorphic regions.Non UBCUnreviewedAuthor affiliation: Johns Hopkins Bloomberg School of Public HealthFacult
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
Inferring rare disease risk variants based on exact probabilities of sharing among multiple affected relatives.
No full textSequencing DNA in extended multiplex families can help to identify high penetrance disease variants too rare in the population to be detected through tests of association in population based studies, but co-segregate with disease in families. When only few affected subjects per family are sequenced, evidence that a rare single nucleotide or copy number variant may be causal can be quantified from the probability of sharing alleles by all affected relatives given it was seen in any one family member under the null hypothesis of complete absence of linkage and association. We present a general framework for calculating such sharing probabilities when two or more affected subjects per family are sequenced, and show how information from multiple families can be combined by calculating a p-value as the sum of the probabilities of sharing events as (or more) extreme. We present case studies from families with multiple members born with oral clefts, and introduce the Bioconductor package RVS.Non UBCUnreviewedAuthor affiliation: Johns Hopkins Bloomberg School of Public HealthFacult
Sequencing family members to detect disease risk variants
No full textNon UBCUnreviewedAuthor affiliation: Johns Hopkins UniversityFacult
Sharing of rare nucleotide and copy number variants in extended multiplex families
No full textNon UBCUnreviewedAuthor affiliation: Johns Hopkins Bloomberg School of Public HealthFacult
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