1,721,037 research outputs found

    Methods in molecular biology: Preface

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    Linkage disequilibrium and association mapping: an introduction

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    The basis for recent developments on the characterization of the linkage-disequilibrium structure of the genome and the application of association mapping to genes for common human diseases is described. Patterns of linkage disequilibrium are now understood, for a number of human populations, in unprecedented detail. This information not only provides a vital resource for the design and execution of powerful association-mapping studies, but opens new avenues of research into the genetic history of human populations and the effects of natural selection, mutation, and recombination on the genomic landscape

    LDMAP: the construction of high-resolution linkage disequilibrium maps of the human genome

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    The precise characterization of the linkage disequilibrium (LD) landscape from highdensity single-nucleotide polymorphism (SNP) data underpins the association mapping of diseases and other studies. We describe the algorithm and implementation of a powerful approach for constructing LD genetic maps with meaningful map distances. The computational problems posed by the enormous number of SNPs typed in the HapMap data are addressed by developing segmental map construction with the potential for parallelization, which we are developing. There is remarkably little loss of information (1-2%) through this approach, but the computation times are dramatically reduced (more than fourfold for sequential map assembly). These developments enable the construction of very highdensity genome-wide LD maps using data from more than 3 million SNPs in HapMap. We anticipate that a whole-genome LD map will be useful for disease gene mapping, genomic research, and population genetics

    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
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