203 research outputs found
Data files for manuscript "Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study"
No full text#2021-09-19
#Summary
This ZIP-file contains the Excel files used for all analyses for the manuscript "Prevalence of hereditary tubulointerstitial kidney diseases in the German Chronic Kidney Disease study".
#File structure
README.txt This README file.
File S1 ("FileS1_GCKD-ADTKD.cohort.xlsx") Cohort characteristics, sequencing quality parameters and fingerprinting results.
File S2 ("FileS2_GCKD-ADTKD.content.xlsx") Sequencing panel design/ content with information on gene domains used for Figure 2.
File S3 ("FileS3_GCKD-ADTKD.variants.xlsx") Information on small variants, CNVs and MUC1 analyses (SNaPshot and adVNTR).
File S4 ("FileS4_GCKD-ADTKD.simulation.xlsx") Curated variant and individual data from the Groopman study with results of the simulation for Figure 4.
#Files and checksums
2D6184BC145987D3EE2E0DC6873DDDDB ./README.txt
10EE4C3C9D9ED6417647F26A09583820 ./FileS1_GCKD-ADTKD.cohort.xlsx
9F95661845215FB7875EB053F887AB36 ./FileS2_GCKD-ADTKD.content.xlsx
2AC19FBC6103CB48905F64716428AE5B ./FileS3_GCKD-ADTKD.variants.xlsx
2D6184BC145987D3EE2E0DC6873DDDDB ./FileS4_GCKD-ADTKD.simulation.xls
Data files for manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2"
No full text#2022-02-21
#Summary
This ZIP-file contains the data files used for all analyses for the manuscript "A novel syndrome caused by the constitutional gain-of-function variant p.Glu1099Lys in NSD2".
#File structure
README.txt This README file.
File S02 ("FileS02_NSD2-clinical-information-and-variants.xlsx") Clinical data of GoF and LoF inidviduals used for Table 1 and Table 2 and genetic variant data used for Figure 2.
File S03 ("FileS03_NSD2-CCLE-analyses.xlsx") Tables containing information of the CCLE analyses and depmap results used for Figure 3A-D.
File S04 ("FileS04_humanbase_global_1642958821189.tar.gz") Tar.gz file of the downlaoded humanbase result files used for Figure 3E.
#Files and checksums
5FE613FC7646419C20153068E8D5F463 ./FileS02_NSD2-clinical-information-and-variants.xlsx
AC53634E6044469BE42DBBE8F7503275 ./FileS03_NSD2-CCLE-analyses.xlsx
7AE58A28A4D1E1462521A37522BB78B6 ./FileS04_humanbase_global_1642958821189.tar.g
A4NT : Author Attribute Anonymity by Adversarial Training of Neural Machine Translation
Get PDFText-based analysis methods enable an adversary to reveal privacy relevant author attributes such as gender, age and can identify the text's author. Such methods can compromise the privacy of an anonymous author even when the author tries to remove privacy sensitive content. In this paper, we propose an automatic method, called the Adversarial Author Attribute Anonymity Neural Translation (), to combat such text-based adversaries. Unlike prior works on obfuscation, we propose a system that is fully automatic and learns to perform obfuscation entirely from the data. This allows us to easily apply the system to obfuscate different author attributes. We propose a sequence-to-sequence language model, inspired by machine translation, and an adversarial training framework to design a system which learns to transform the input text to obfuscate the author attributes without paired data. We also propose and evaluate techniques to impose constraints on our model to preserve the semantics of the input text. learns to make minimal changes to the input to successfully fool author attribute classifiers, while preserving the meaning of the input text. Our experiments on two datasets and three settings show that the proposed method is effective in fooling the attribute classifiers and thus improves the anonymity of authors
Data files for manuscript "Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders"
No full text<p>#2021-07-23<br>
#Summary<br>
This ZIP-file contains the Excel files used for the clinical and variant analyses for the manuscript "Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders".</p>
<p>#Folder structure<br>
./ (parent directory containing this README file and all subfolders)<br>
./Clinical/ (contains an Excel sheets with complete clinical data, costs and criteria)<br>
./Variants/ (contains an Excel sheet with all variant annotation)</p>
<p>#Files and checksums<br>
6DB0EF10BE7A7AF5A18E523F33FB662A ./Clinical/FileS2_Clinical.xlsx<br>
0B0C1AFA0751B63A35DC99DB25546A38 ./Variants/FileS3_Variants.xlsx</p>
De novo missense mutations in the NAA10 gene cause severe non-syndromic developmental delay in males and females
No full textA4NT: Author Attribute Anonymity by Adversarial Training of Neural Machine Translation
No full textText-based analysis methods enable an adversary to reveal privacy relevant author attributes such as gender, age and can identify the text's author. Such methods can compromise the privacy of an anonymous author even when the author tries to remove privacy sensitive content. In this paper, we propose an automatic method, called the Adversarial Author Attribute Anonymity Neural Translation (), to combat such text-based adversaries. Unlike prior works on obfuscation, we propose a system that is fully automatic and learns to perform obfuscation entirely from the data. This allows us to easily apply the system to obfuscate different author attributes. We propose a sequence-to-sequence language model, inspired by machine translation, and an adversarial training framework to design a system which learns to transform the input text to obfuscate the author attributes without paired data. We also propose and evaluate techniques to impose constraints on our model to preserve the semantics of the input text. learns to make minimal changes to the input to successfully fool author attribute classifiers, while preserving the meaning of the input text. Our experiments on two datasets and three settings show that the proposed method is effective in fooling the attribute classifiers and thus improves the anonymity of authors
Speciation of nickel (II) chloride complexes in hydrothermal fluids: In situ XAS study
No full textIn situ XAS data of Ni(II) chloride solutions with various salinities (0-7.68m) were collected to investigate the stoichiometry and geometry of Ni(II) chloride complexes from room temperature up to 369°C at 400bar, and to 434°C at 600bar. Increasing temperature and/or salinity results in a change in the coordination of the Ni(II) chlorocomplexes from octahedral to (distorted) tetrahedral. Octahedral species predominate within the whole salinity range at room temperature and up to ~200°C, and tetrahedral species become significant beyond this temperature. At 369°C and 400bar, octahedral species remain in equilibrium with tetrahedral species, and the number of chloride ligands in the first coordination shell depends on the Cl:Ni molar ratio. EXAFS refinements and ab initio XANES calculations show that the highest order chlorocomplex present over the investigated pressure, temperature and composition ranges is the distorted tetrahedral complex [NiCl3(H2O)]-, which predominates in the highest Cl concentration (7.68m) solution at 434°C and 600bar. A quantitative thermodynamic analysis of the XANES and EXAFS data reveals that the XAS data are consistent with the speciation models derived from recent UV-Vis spectrophotometric measurements (25°C-250°C, 100bar; Liu et al., 2012b) and the high temperature, high pressure solubility experiments of Lin and Popp (1984) and Fahlquist and Popp (1989), if the NiCl2(aq) species exists in both octahedral ([NiCl2(H2O)4](aq)) and tetrahedral ([NiCl2(H2O)2](aq)) forms, with the ratio of octahedral to tetrahedral decreasing at high temperature (>200°C). The new XAS data show that the octahedral to tetrahedral transition in Ni(II) chloride complexes occurs at higher temperature and/or salinity than the corresponding Co(II) complexes (Liu et al., 2011). © 2012 Elsevier B.V.Yuan Tian, Barbara Etschmann, Weihua Liu, Stacey Borg, Yuan Mei, Denis Testemale, Brian O'Neill, Nick Rae, David M. Sherman, Yung Ngothai, Bernt Johannessen, Chris Glover, Joël Brugge
Bildung and the road from a classical into a global and postcolonial concept
No full textIn this article the author shows how a European classical form of bildung has developed in our time into a postcolonial, or a new global form of bildung.
The main components of the concept of bildung are described as well as a suggestion of what we can mean by the postcolonial. Thereafter the author elaborate on the relationship between the universal and the particular and discusses what we can mean by a global concept of bildung
Kinetic electron phenomena in dense magnetized plasma wakes
No full textThesis: Ph. D., Massachusetts Institute of Technology, Department of Nuclear Science and Engineering, 2015.This electronic version was submitted by the student author. The certified thesis is available in the Institute Archives and Special Collections.Cataloged from student-submitted PDF version of thesis.Includes bibliographical references (pages 135-143).Flow past an obstacle by dense magnetized plasma, having both Debye-length and gyroradii smaller than the obstacle, is explored using particle-in-cell (PIC) simulations. These simulations are relevant to a wide range of physical settings, ranging from the moon in the (supersonic) solar wind to Mach probes in (subsonic) tokamak plasmas. For supersonic flow, the evolution of the resulting elongated wake is captured with high-resolution 1D simulations, using kinetic electrons with realistic mass. This leads to the discovery of a novel wake phenomenon, where electron holes spawned from a narrow dimple in the velocity-distribution grow to large velocity extents, leading to disruption of the ion beams present in the wake. Those beams are the result of shadowing by the obstacle, which also occurs for electrons in what is a less elongated forewake, lying outside the traditional wake. This forewake is explored with 2D simulations, also using kinetic electrons with realistic mass, and it is found that drift-energization near the obstacle can significantly modify the electron distribution in some regions. Most significantly, drift-energization appears to quite robustly generate a slope-reversal of the electron velocity-distribution, which is expected to become unstable; this phenomenon thus provides a novel drive for forewake instability. 2D simulations at subsonic flow are used in an initial investigation of whether kinetic electron effects also impact the stability of wakes at slower flow. It is found that kinetic electrons do trigger disruption of the ion beams in the wake, as in the (supersonic) 1D simulations, but the hole-growth phenomenon cannot be conclusively implicated because a highly artificial electron mass needed to be used. In summary, the understanding of kinetic electron effects as dense magnetized plasma flows past an obstacle is greatly enhanced, uncovering a number of novel phenomena with implications for the stability of the resulting wake and forewakeby Christian Bernt Haakonsen.Ph. D
CUSHAW3 : sensitive and accurate base-space and color-space short-read alignment with hybrid seeding
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