844 research outputs found

    Genome-wide SNP typing of ancient DNA: Determination of hair and eye color of Bronze Age humans from their skeletal remains.

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    Objective A genome-wide high-throughput single nucleotide polymorphism (SNP) typing method was tested with respect of the applicability to ancient and degraded DNA. The results were compared to mini-sequencing data achieved through single base extension (SBE) typing. The SNPs chosen for the study allow to determine the hair colors and eye colors of humans. Material and methods The DNA samples were extracted from the skeletal remains of 59 human individuals dating back to the Late Bronze Age. The 3,000 years old bones had been discovered in the Lichtenstein Cave in Lower Saxony, Germany. The simultaneous typing of 24 SNPs for each of the ancient DNA samples was carried out using the 192.24 Dynamic Array (TM) by Fluidigm (R). Results Thirty-eight of the ancient samples (=64%) revealed full and reproducible SNP genotypes allowing hair and eye color phenotyping. In 10 samples (=17%) at least half of the SNPs were unambiguously determined, in 11 samples (=19%) the SNP typing failed. For 23 of the 59 individuals, a comparison of the SNP typing results with genotypes from an earlier performed SBE typing approach was possible. The comparison confirmed the full concordance of the results for 90% of the SNP typings. In the remaining 10% allelic dropouts were identified. Discussion The high genotyping success rate could be achieved by introducing modifications to the preamplification protocol mainly by increasing the DNA input and the amplification cycle number. The occurrence of allelic dropouts indicates that a further increase of DNA input to the preamplification step is desirable

    Wissen und Organisation:: Die Deutsche Gesellschaft für Soziologie und der Historikerverband

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    This contribution reconstructs the histories of the two scientific disciplines Sociology and History. Drawing on their national professional associations, the authors explore the processes of academic institutionalization in both cases, though putting emphasis on the German Sociological Association (DGS). The authors identify significant differences between the histories of the DGS and the German Historical Association (VHD), which have had mayor impact on their organizational forms and functions. The institutionalization of history started already with the Enlightenment and limited the functions of the VHD mostly to the organization of annual conferences. Sociology, in contrast, was – although embedded in transnational and interdisciplinary networks – still not academically established in the German Empire. The DGS, therefore, had to assume a wide range of tasks. In their further development the profiles of both academic associations have become more equal in some aspects while perpetuating the differences in others

    Categorizing Queer Identities: An Analysis of Archival Practices Using the Concept of Boundary Objects

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    In this paper, we present a field study that examines the development, application and maintenance of classification systems and controlled vocabularies in three archives documenting lesbian, trans* and queer-feminist histories. Queer archives face the challenge of documenting identities that are inherently characterized by embracing fluidity and ambiguity. Thus, queer identities are diametrically opposed to archival procedures of unambiguous classification. At the same time, queer activism relies partly on coherent identity categories in order to be able to act politically. We examine the pragmatic solutions that queer archives establish when dealing with tensions between those requirements. Our goal is to contribute to the ongoing discussions about the ethical dimensions of classification practices. Following the work of Geoffrey C. Bowker and Susan Leigh Star (1999) we use the concept of boundary objects as a central theoretical foundation of our research. This concept allows for tracing the negotiations and decision-making processes that influenced the creation of a specific classification system. Through conducting semi-structured interviews with staff members of queer archives in Germany we collected data about their efforts to archive the history of queer communities. Although there are initiatives developing metadata standards for queer identities, these standards are only used to a limited extent by the queer archives we examined. Rather, those archives established individual strategies for categorizing objects that are rooted in their specific history. We argue that classification systems and controlled vocabularies themselves can be understood as artifacts documenting the history of queer movements

    The Public Life of Data: Investigating Reactions to Visualizations on Reddit

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    This research investigates how people engage with data visualizations when commenting on the social platform Reddit. There has been considerable research on collaborative sensemaking with visualizations and the personal relation of people with data. Yet, little is known about how public audiences without specific expertise and shared incentives openly express their thoughts, feelings, and insights in response to data visualizations. Motivated by the extensive social exchange around visualizations in online communities, this research examines characteristics and motivations of people's reactions to posts featuring visualizations. Following a Grounded Theory approach, we study 475 reactions from the /r/dataisbeautiful community, identify ten distinguishable reaction types, and consider their contribution to the discourse. A follow-up survey with 168 Reddit users clarified their intentions to react. Our results help understand the role of personal perspectives on data and inform future interfaces that integrate audience reactions into visualizations to foster a public discourse about data

    WordWanderer: A navigational approach to text visualisation

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    Text visualisations provide visual representations of documents or small corpora with the primary aim of supporting language analysis. We are interested in developing a more playful approach to language that can be characterised by the notion of wandering as an open-ended movement. To support such a casual form of engagement with text, we designed the WordWanderer system: a visualisation technique that extends tag clouds into a navigational interface for text. The tool supports the gradual movement between word ‘context views’, which represent the words that co-occur in the vicinity of the selected word, and word-‘comparison views’, which arrange words based on their association strengths between two selected words. We report on the encouraging feedback from a ten-day deployment of the interface and present promising directions for future design and research

    Die Gründung der Deutschen Gesellschaft für Soziologie vor 110 Jahren

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    Das Autorenteam befasst sich mit dem Kontext, den Zielen und den Bedingungen der Entstehung der Deutschen Gesellschaft für Soziologie im Jahr 1909. Gründungszeit und historische Entwicklung bis in die Bundesrepublik hinein werden mit Rekursen auf die wechselnden politischen Verhältnisse nachgezeichnet und die sich in den verschiedenen konzeptuellen Ausrichtungen der Satzung niederschlagenden Veränderungen werden dargestellt. The team of authors deals with the context, goals and conditions of the formation of the German Sociological Association in 1909. The founding period and historical development well into the Federal Republic are traced by recourse to changing political conditions. The changes, reflected in the various conceptual orientations of the statutes, are sketched

    PALB2 mutations in German and Russian patients with bilateral breast cancer

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    Since germline mutations in the PALB2 (Partner and Localizer of BRCA2) gene have been identified as breast cancer (BC) susceptibility alleles, the geographical spread and risks associated with PALB2 mutations are subject of intense investigation. Patients with bilateral breast cancer constitute a valuable group for genetic studies. We have thus scanned the whole coding region of PALB2 in a total of 203 German or Russian bilateral breast cancer patients using an approach based on high-resolution melting analysis and direct sequencing of genomic DNA samples. Truncating PALB2 mutations were identified in 4/203 (2%) breast cancer patients with bilateral disease. The two nonsense mutations, p.E545X and p.Q921X, have not been previously described whereas the two other mutations, p.R414X and c.509_510delGA, are recurrent. Our results indicate that PALB2 germline mutations account for a small, but not negligible, proportion of bilateral breast carcinomas in German and Russian populations

    The State-of-the-Art of Set Visualization

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    Sets comprise a generic data model that has been used in a variety of data analysis problems. Such problems involve analysing and visualizing set relations between multiple sets defined over the same collection of elements. However, visualizing sets is a non-trivial problem due to the large number of possible relations between them. We provide a systematic overview of state-of-the-art techniques for visualizing different kinds of set relations. We classify these techniques into six main categories according to the visual representations they use and the tasks they support. We compare the categories to provide guidance for choosing an appropriate technique for a given problem. Finally, we identify challenges in this area that need further research and propose possible directions to address these challenges. Further resources on set visualization are available at http://www.setviz.net
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