224 research outputs found

    Proportioning whole-genome single-nucleotide-polymorphism diversity for the identification of geographic population structure and genetic ancestry

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    The identification of geographic population structure and genetic ancestry on the basis of a minimal set of genetic markers is desirable for a wide range of applications in medical and forensic sciences. However, the absence of sharp discontinuities in the neutral genetic diversity among human populations implies that, in practice, a large number of neutral markers will be required to identify the genetic ancestry of one individual. We showed that it is possible to reduce the amount of markers required for detecting continental population structure to only 10 single-nucleotide polymorphisms (SNPs), by applying a newly developed ascertainment algorithm to Affymetrix GeneChip Mapping 10K SNP array data that we obtained from samples of globally dispersed human individuals (the Y Chromosome Consortium panel). Furthermore, this set of SNPs was able to recover the genetic ancestry of individuals from all four continents represented in the original data set when applied to an independent, much larger, worldwide population data set (Centre d'Etude du Polymorphisme Humain-Human Genome Diversity Project Cell Line Panel). Finally, we provide evidence that the unusual patterns of genetic variation we observed at the respective genomic regions surrounding the five most informative SNPs is in agreement with local positive selection being the explanation for the striking SNP allele-frequency differences we found between continental groups of human populations

    Camera-based objective measures of Parkinson's disease gait features

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    OBJECTIVE: Parkinson's disease is a common, age-related, neurodegenerative disease, affecting gait and other motor functions. Technological developments in consumer imaging are starting to provide high-quality, affordable tools for home-based diagnosis and monitoring. This pilot study aims to investigate whether a consumer depth camera can capture changes in gait features of Parkinson's patients. The dataset consisted of 19 patients (tested in both a practically defined OFF phase and ON phase) and 8 controls, who performed the "Timed-Up-and-Go" test multiple times while being recorded with the Microsoft Kinect V2 sensor. Camera-derived features were step length, average walking speed and mediolateral sway. Motor signs were assessed clinically using the Movement Disorder Society Unified Parkinson's Disease Rating Scale. RESULTS: We found significant group differences between patients and controls for step length and average walking speed, showing the ability to detect Parkinson's features. However, there were no differences between the ON and OFF medication state, so further developments are needed to allow for detection of small intra-individual changes in symptom severity

    Cyberspace, Blockchain, Governance:How Technology Implies Normative Power and Regulation

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    Technologies and their inherent design choices create normative structures that affect governance. This chapter aims to illustrate how blockchain technology in particular introduces new norms into a legal framework. We first analyze the different forms of governance by distinguishing between old and new governance. With a view to code that functions as legal norms, Blockchain technology is particularly suited to create governance structures and mechanisms. However, one needs to be aware of the norms that are implicitly introduced into the legal system by a specific blockchain technology. We look at the blockchain technology that underlies cryptocurrencies such as Bitcoin. This blockchain introduces a decentralized, transparent, cryptographically locked and thus immutable shared ledger. In summary, these design choices have normative powers over the user and over user interaction. If this is indeed the case, then regulators have to actively assess newly introduced digital ledger technology and other technologies for their effect on the normative and legal system.</p

    Marine spatial planning: risk or opportunity for fisheries in the North Sea?

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    The North Sea is one of the busiest marine areas in the world. It is also a major fisheries ground. Bordered by seven countries with their own spatial uses and claims, the stage is set for complex and demanding governance challenges. Recent decades have also seen user groups multiply, competition for space and resources increase, and the pressure on the marine environment and its living natural resources grow. As governments strive to balance conservation and economic development needs, they also have to deal with inter-as well as intra-national user conflicts. Marine Spatial Planning (MSP) has arrived as a new approach to these issues. It is argued that for North Sea fishing people and their communities MSP holds risks as well as opportunities, depending on which institutions are formed and what role they are allowed to play in the planning process
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