54 research outputs found

    International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways.

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    Primary biliary cirrhosis (PBC) is a classical autoimmune liver disease for which effective immunomodulatory therapy is lacking. Here we perform meta-analyses of discovery data sets from genome-wide association studies of European subjects (n=2,764 cases and 10,475 controls) followed by validation genotyping in an independent cohort (n=3,716 cases and 4,261 controls). We discover and validate six previously unknown risk loci for PBC (Pcombined<5 × 10(-8)) and used pathway analysis to identify JAK-STAT/IL12/IL27 signalling and cytokine-cytokine pathways, for which relevant therapies exist

    International genome-wide meta-analysis identifies new primary biliary cirrhosis risk loci and targetable pathogenic pathways

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    Upper-Truncated Power Law Distributions

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    Power law cumulative number-size distributions are widely used to describe the scaling properties of data sets and to establish scale invariance. We derive the relationships between the scaling exponents of non-cumulative and cumulative number-size distributions for linearly binned and logarithmically binned data. Cumulative number-size distributions for data sets of many natural phenomena exhibit a fall-off from a power law at the largest object sizes. Previous work has often either ignored the fall-off region or described this region with a different function. We demonstrate that when a data set is abruptly truncated at large object size, fall-off from a power law is expected for the cumulative distribution. Functions to describe this fall-off are derived for both linearly and logarithmically binned data. These functions lead to a generalized function, the upper-truncated power law, that is independent of binning method. Fitting the upper-truncated power law to a cumulative number-size distribution determines the parameters of the power law, thus providing the scaling exponent of the data. Unlike previous approaches that employ alternate functions to describe the fall-off region, an upper-truncated power law describes the data set, including the fall-off, with a single function

    Time-Frequency Methods for Characterizing Cuspate Landforms in Lidar Data

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    Time-frequency techniques to characterize cuspate patterns in light detection and ranging (lidar) data are introduced using examples from the Atlantic coast of Florida, United States. These techniques permit the efficient study of beach face landforms over many kilometers of coastline at multiple spatial scales. From a lidar image, a beach-parallel spatial series is generated. Here, this series is the shore-normal position of a specific elevation (contour line). Well-established time-frequency analysis techniques, wavelet transforms, and S-Transforms, are then applied to the spatial series. These methods yield results entirely compatible with the traditional method of estimating the spacing of cuspate features. In addition, confidence intervals are readily established for the spatial extent and wavelengths of cuspate landforms simultaneously at multiple scales. Examples show this method is useful for capturing transitions in cuspate shapes. With the advent of land-based time-lapse lidar, such techniques should be particularly useful for characterizing the evolution of cuspate landforms and testing models for beach face dynamics

    UPPER-TRUNCATED POWER LAW DISTRIBUTIONS

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    Self-Similar Criticality

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