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Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

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Simultaneous control of Energy and Actuated Variable of3-Link Planar Robot with Underactuation Degree Two and Its Application

Simultaneous Control of Energy and Actuated Variable of3-Lin...

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第三十三届中国控制会议

作者： Yannian LIU Xin XIN Masaki Yamakita Biomedical Engineering Laboratory Graduate School of Natural Science and Technology Okayama University 1-1-1 Tsushima-naka Kita-ku Okayama-shi Okayama 700-8530 Japan Faculty of Computer Science and Systems Engineering Okayama Prefectural University 111 Kuboki Soja Okayama 719-1197 Japan Department of Mechanical and Control Engineering Tokyo Institute of Technology 2-12-1 Oookayama Meguro-ku Tokyo 152 Japan

ISBN: (纸本)9781479947249

This paper concerns a control problem for a 3-link planar robot moving in the vertical plane with only the rst joint being actuated by using the energy-based control approach. This robot is of underactuation degree two since the difference of the number of degrees of freedom and that of control input is two which is usually very dif cult to control. The control objective is to control simultaneously the total mechanical energy, the angular velocity and the angle of link 1 of the robot to their values corresponding to those at the upright equilibrium point, where all three links are in the upright position. The main contribution of this paper is to provide a global analysis of the convergence of the energy and the motion of the robot under the derived control law in a systematic way. By presenting a new property with its strict proof about the motion of the robot, without any condition on the mechanical parameters of the robot, we prove that the control objective is achieved for all initial states with the exception of a set of Lebesgue measure zero provided that two conditions on control gains are satis ed. Although there is no theoretical guarantee that there exists time such that the robot can be swung up close to the upright equilibrium point, the numerical simulation shows that this simultaneous control can be applied successfully to the swing-up and stabilizing control for a 3-link robot. This paper reveals the dif culty of the motion analysis of mechanical systems with underactuation degree greater than one.

关键词： 3-link robot,two passive joints,underactuation,energy-based control,swing-up control

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Towards an inclusive Parkinson's screening system

Towards an inclusive Parkinson's screening system

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International Conference on System Theory, control, and Computing (ICSTCC)

作者： Oana Geman Saeid Sanei Iuliana Chiuchisan Adrian Graur Aleš Procházka Oldřich Vyšata Department of Health and Human Development “Stefan eel Mare” University of Suceava Romania Department of Computer Science Electronics and Automation “Stefan cel Mare” University of Suceava Romania Faculty of Engineering and Physical Sciences University of Surrey United Kingdom Department of Computing and Control Engineering Institute of Chemical Technology Czech Republic Department of Neurology Charles University Czech Republic

In this study, brain, and gait dynamic information were combined and used for diagnosis and monitoring of Parkinson's disease (the most important Neurodegenerative Disorder). Analysis of the information corresponding to a prescribed movement involving tremor, and the related changes in brain connectivity is novel and original. Analytically, developing a space-time nonlinear adaptive system which fuses brain and gait information algorithmically is proposed here for the first time. The overall dynamic system will be constrained by the clinical impressions of the patient symptoms embedded in a knowledge-based system. The entire complex constrained problem were solved to enable a powerful model for recognition and monitoring of Parkinson's disease and establishing appropriate rules for its clinical following up.

关键词： Brain modeling Adaptation models Parkinson's disease Chaos Signal processing algorithms Nonlinear dynamical systems

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A hybrid approach for control flow graph construction from binary code

A hybrid approach for control flow graph construction from b...

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作者： Nguyen, Minh Hai Nguyen, Thien Binh Quan, Thanh Tho Ogawa, Mizuhito Faculty of Computer Science and Engineering Hochiminh City University of Technology Hochiminh City Viet Nam School of Information Science Japan Advanced Institute of Science and Technology Ishikawa Japan

Binary code analysis has attracted much attention. The difficulty lies in constructing a control Flow Graph (CFG), which is dynamically generated and modified, such as mutations. Typical examples are handling dynamic jump instructions, in which destinations may be directly modified by rewriting loaded instructions on memory. In this paper, we describe a PhD project proposal on a hybrid approach that combines static analysis and dynamic testing to construct CFG from binary code. Our aim is to minimize false targets produced when processing indirect jumps during CFG construction. To evaluate the potential of our approach, we preliminarily compare results between our method and Jakstab, a state-of-the-art tool in this field. © 2013 IEEE.

关键词： Static analysis

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Sign language translation system based on micro-inertial measurement units and ZigBee network

Sign language translation system based on micro-inertial mea...

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作者： Shi, Guangyi Li, Zhi Tu, Keke Jia, Songtao Cui, Qinghu Jin, Yufeng Peking University Shenzhen Graduate School Shenzhen China National Key Laboratory of Science and Technology on Micro/Nano Fabrication Beijing China Faculty of Computer Science and Software Engineering Shenzhen University Shenzhen China

Chinese sign language has been proved as an effective communication tool for deaf people. In this paper, we present a novel translation system, which can capture human gestures through micro-inertial measurement units (IMUs) and translate the gestures into specific meanings accordingly. Each micro-IMU consists of a 3D accelerometer and gyroscope. A micro-controller and ZigBee network were used to acquire data simultaneously and wirelessly. Ten types of basic Chinese sign language movements including what, how, work, today, happy, please, book, body, clothes and and were collected and stored to form a motion-sensing database. A discrete cosine transform (DCT) was performed to extract the effective features from the original data, while a hidden Markov model (HMM) was used to train the database in order to form an HMM classifier. Testing samples were used to test the HMM classifier. Different sign languages were recognized through the HMM classifier and subsequent translation processes were performed. Experimental results showed that the correct recognition rate ranges from 95% to 100% for the 10 sign language movements, and the overall correction rate is 98%. With more micro-electro-mechanical system (MEMS) sensing motes adding to the interpretation system, the performance will be enhanced. © The Author(s) 2013.

关键词： Classification (of information)

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Studies on infrasound noise generated by operation of low-power wind turbine

Studies on infrasound noise generated by operation of low-po...

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作者： Pierzga, R. Boczar, T. Wotzka, D. Zmarzly, D. Faculty of Electrical Engineering Automatic Control and Computer Science Pole University of Technology Prószkowska 76 45-758 Opole Poland

Subject matter of this paper deals with issues of the environmental impact of infrasound noise associated with operation of low-power wind turbines. It is now the current and relevant problem for both the cognitive and utilitarian standpoint. There is now a considerable growth in the number of such installations in Poland, Europe and in the world, due to the possibility of locating them on existing building roofs in heavily urbanized areas, and without having to build additional supporting structures. As part of the study, measurements of low frequency acoustic signals generated during operation of micro turbine equipped with a rotor of vertical axis of rotation relative to the wind direction have been performed. Analyses were carried out in order to determine the impact of wind speed and selected meteorological parameters on the level of infrasound signals emitted by the test turbine. In addition, frequency analysis of the recorded signals was performed. Then, the obtained results were subjected to comparative analysis. In summary, the achieved results were referred to the limits of sound pressure intensity level of infrasound signals as specified for the working environment in accordance with the Polish Standard PN-Z-01338.

关键词： Wind turbines

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Analysis of acoustic signals interfering diagnostic measurements of electric power transformer tap changers

Analysis of acoustic signals interfering diagnostic measurem...

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作者： Boczar, T. Cichoń, A. Borucki, S. Szczyrba, T. Faculty of Electrical Engineering Automatic Control and Computer Science Opole University of Technology Prószkowska 76 45-758 Opole Poland

Subject matter of this paper applies to improvement of acoustic emission method used in the diagnosis of on load tap changers of high power transformers. During measurement of acoustic emission signals generated by damages or defects, which can appear in insulation system and in the power transformer tap changers, various forms of noise signals may occur. Interferences occurring during measurements under laboratory and under industrial conditions can be generated either by sources placed inside the studied electric power device or they can be emitted in their immediate vicinity. Sources of interfering signals are physical phenomena of a mechanical, electrical or acoustical nature. Interferences appearing during measurement of acoustic emission pulses generated by electrical discharges and other types of defects that overlap the measured waveforms may result in their distortion. As part of the research conducted, the results of which are presented in this paper, following was subjected under consideration: measurements of acoustic noise signals generated by partial surface discharges occurring on support and bushing insulators were performed.

关键词： Surface discharges

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ESICM LIVES 2016: part two

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Intensive Care Medicine Experimental 2016年第1期4卷 205-404页

作者： S. Sivakumar F. S. Taccone K. A. Desai C. Lazaridis M. Skarzynski M. Sekhon W. Henderson D. Griesdale L. Chapple A. Deane L. Williams R. Strickland K. Lange D. Heyland M. Chapman M. J. Rowland P. Garry J. Westbrook R. Corkill C. A. Antoniades K. T. Pattinson G. Fatania A. J. Strong R. B. Myers C. M. Jermaine C. S. Robertson C. G. Rusin J. Hofmeijer L. Sondag M. C. Tjepkema-Cloostermans A. Beishuizen F. H. Bosch M. J. A. M. van Putten L. Carteron C. Patet D. Solari M. Oddo M. A. Ali C. Dias R. Almeida A. Vaz-Ferreira J. Silva E. Monteiro A. Cerejo A. P. Rocha A. A. Elsayed A. M. Abougabal B. N. Beshey K. M. Alzahaby S. Pozzebon A. Blandino Ortiz S. Cristallini O. Lheureux A. Brasseur J. L. Vincent J. Creteur M. Hravnak K. Yousef Y. Chang E. Crago R. M. Friedlander S. A. Abdelmonem S. A. Tahon T. A. Helmy H. S. Meligy F. Puig I. Dunn-Siegrist J. Pugin S. Gupta D. Govil S. Srinivasan S. J. Patel J. K. N A. Gupta D. S. Tomar M. Shafi R. Harne D. P. Arora N. Talwar S. Mazumdar E. E. Papakrivou D. Makris E. Manoulakas B. Tsolaki B. Karadodas E. Zakynthinos I. Palacios Garcia A. Diaz Martin V. Sanchez Encinares M. Pachón Ibañez J. Garnacho Montero G. Labrador T. Cebrero Cangueiro V. Poulose J. Koh J. W. Kam H. Yeter A. Kara O. Aktepe A. Topeli I. Tsolakoglou G. Intas P. Stergiannis A. A. Kolaros E. Chalari E. Athanasiadou A. Martika G. Fildisis V. Faivre C. Mengelle B. Favier D. Payen A. Poppe M. S. Winkler E. Mudersbach J. Schreiber M. L. Wruck E. Schwedhelm S. Kluge C. Zöllner T. Tavladaki A. M. Spanaki H. Dimitriou E. Kondili C. Choulaki E. Meleti D. Kafetzopoulos D. Georgopoulos G. Briassoulis A. García-de la Torre M. V. de la Torre-Prados T. Tsvetanova-Spasova P. Nuevo-Ortega C. Rueda-Molina A. Fernández-Porcel E. Camara-Sola L. Salido-Díaz A. García-Alcántara D. E. Meleti B. Suberviola J. Riera L. Rellan M. Sanchez J. C. Robles E. Lopez R. Vicente E. Miñambres M. Santibañez M. Le Guen J. Moore N. Mason M. Windpassinger O. Plattner E. Mascha D. I. Sessler Outcomes Research U. Melia J. Fontanet J. P. van den Berg M. Baylor College of Medicine Neurology/Neurocritical Care Houston USA Erasmus Hospital Intensive Care Medicine Brussels Belgium Centre Hospitalier Régional Orléans Réaimation Médicale Orléans France University of British Columbia Vancouver Canada University of Adelaide Discipline of Acute Care Medicine Adelaide Australia Royal Adelaide Hospital Intensive Care Adelaide Australia Griffith University Menzies Health Institute of Queensland Gold Coast Australia University of Adelaide Discipline of Medicine Adelaide Australia Kingston General Hospital Clinical Evaluation Research Unit Kingston Canada University of Oxford Nuffield Department of Clinical Neurosciences Oxford UK Oxford University Hospitals NHS Foundation Trust Neurosciences Intensive Care Unit Oxford UK King’s College Hospital Department of Neurosurgery London UK King’ College London Institute of Psychiatry Psychology and Neuroscience Department of Clinical Neuroscience London UK Rice University Computer Science Houston USA Baylor College of Medicine Neurosurgery Houston USA Baylor College of Medicine Pediatric Cardiology Houston USA University of Twente Clinical Neurophysiology Enschede Netherlands Rijnstate Hospital Neurology Arnhem Netherlands Medical Spectrum Twente Clinical Neurophysiology Enschede Netherlands Medical Spectrum Twente Intensive Care Enschede Netherlands Rijnstate Hospital Intensive Care Arnhem Netherlands CHUV Department of Intensive Care Medicine Neuroscience Critical Care Research Group Lausanne Switzerland Aga Khan University Hospital Anaesthesiology Karachi Pakistan Centro Hospitalar São João Intensive Care Porto Portugal Faculty of Medicine University of Porto Medicine Porto Portugal Faculdade de Ciências Universidade do Porto Departamento de Matemática Porto Portugal Centro de Matemática Universidade do Porto Porto Portugal The Biomedical Research Networking Center in Bioengineering Biomaterials and Nanomedicine Zaragoza Spain Centro Hospitalar

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Analysis of optical radiation generated by electrical discharges on support insulator

Analysis of optical radiation generated by electrical discha...

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作者： FrĄcz, P. Boczar, T. Zmarzly, D. Szczyrba, T. Faculty of Electrical Engineering Automatic Control and Computer Science Opole University of Technology Prószkowska 76 45-758 Opole Poland

Subject of the paper concerns determination of the feasibility and indication of the application scope of optical spectroscopy methods in the diagnosis of high-voltage insulators. Results of measurements of optical radiation emitted by partial and complete electrical discharges occurring on a support insulator model placed in air are presented in the paper. Registration was performed using a spectrophotometer, enabling for measurement of optical radiation in the range from 200 to 1800 nm. The primary objective of the laboratory tests was to evaluate the impact of supply voltage changes in the range from 0 to 60 kV on the intensity and spectral character of the optical radiation emitted by electric discharges generated on the porcelain insulation surface of the support insulator. In the scope of studies analyzes of the eects of voltage changes on the obtained spectral wave forms were performed, whereby voltage increase and reduction was examined separately. Additionally, measurements and analyzes carried out included impact estimation of the time period as the voltage was applied to the high-voltage electrodes on the course of optical phenomena related to the generation of electrical discharges.

关键词： Spectroscopic analysis

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The critical evaluation of the vibroacoustic criteria used in poland to diagnose of power transformer cores

The critical evaluation of the vibroacoustic criteria used i...

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作者： Borucki, S. Cichon, A. Boczar, T. Zmarzly, D. Faculty of Electrical Engineering Automatic Control and Computer Science Opole University of Technology Prószkowska 76 45-758 Opole Poland

The subject matter of this article concerns the diagnostic test results of transformer cores by measuring and analysing vibroacoustic signals registered during their normal operation. The main objective of this research study conducted by the authors, the results of which are published in this paper, is a critical analysis of vibroacoustic criteria, which are adopted in Poland nowadays, and based on which, the assessment of the core technical condition is performed. This article presents exemplary results that were obtained on two twin units of type TET 8509 with a power of 40 MVA. The paper species diagnosed structures, the measurement system applied, and the currently used methodology to assess the degree of core loosening. To determine the efficacy and assessment accuracy of the applied vibroacoustic criteria, correlation between mechanical vibration measurements of the tested transformer tanks and results obtained by gas chromatography was performed.

关键词： Gas chromatography

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