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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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Clustering spatial on the GSTAR model for replacement new oil well

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AIP Conference Proceedings 2013年第1期1554卷 205-209页

作者： Budi Nurani Ruchjana Atje Setiawan Abdullah Toni Toharudin I Gede Nyoman Mindra Jaya Department of Mathematics Faculty of Mathematics and Natural Sciences Universitas Padjadjaran Indonesia Informatics Engineering Study Program Faculty of Mathematics and Natural Sciences Universitas Padjadjaran Indonesia Department of Statistics Faculty of Mathematics and Natural Sciences Universitas Padjadjaran Jl Raya Bandung Sumedang Km 21 Jatinangor Sumedang 45363-West Java Indonesia

Space time models such as the Generalized Space Time Autoregressive (GSTAR) is an important theoretical research topics with many applications in large number of areas ranging from the spread of diseases, mining, economic growth, ecology, agriculture and population development. In this paper we introduce a clustering spatial for determining a group of locations for weight matrix of the GSTAR model. We use Ordinary Least Squares method to estimate the parameters of model and apply the result to develop a GSTAR-Kriging model for replacement new oil wells at volcanic field in Jatibarang, West Java-Indonesia.

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Answer Set programming for reasoning with semantic knowledge in collaborative housekeeping robotics

Answer Set Programming for reasoning with semantic knowledge...

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10th IFAC Symposium on Robot Control, SYROCO 2012

作者： Aker, Erdi Patoglu, Volkan Erdem, Esra Computer Science and Engineering Faculty of Engineering and Natural Sciences Sabanci University Istanbul Turkey Mechatronics Faculty of Engineering and Natural Sciences Sabanci University Istanbul Turkey

ISBN: (纸本)9783902823113

Answer Set programming (ASP) is a knowledge representation and reasoning paradigm with high-level expressive logic-based formalism, and efficient solvers;it is applied to solve hard problems in various domains, such as, systems biology, wire routing, space shuttle control. In this paper, we present an application of ASP to housekeeping robotics, by showing how the following problems are addressed using computational methods/tools of ASP: 1) embedding commonsense knowledge automatically extracted from the commonsense knowledge base ConceptNet, into high-level representation, 2) embedding (continuous) geometric reasoning and temporal reasoning about durations of actions, into (discrete) high-level reasoning. We illustrate the applicability of ASP on several housekeeping robotics problems, and report on the computational efficiency in terms of CPU time and memory. © 2012 IFAC.

关键词： Knowledge representation

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Position control of a seesaw like platform by using a thrust propeller

Position control of a seesaw like platform by using a thrust...

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2012 12th IEEE International Workshop on Advanced Motion Control, AMC 2012

作者： Uyar, Erol Akdogan, Turgay Keskin, Onur Mutlu, Lutfi Mechanical Engineering Dokuz Eylul University Engineering Faculty Izmir Turkey Mechatronics Engineering Dokuz Eylul University Graduate School of Natural and Applied Sciences Izmir Turkey

ISBN: (纸本)9781457710711

This paper presents the design and position control of a seesaw like supported beam which angular motion is measured by an encoder and controlled by the draft force of a propeller at end of the beam. After the general mechanical design and modelling the system, dynamic equations and parameters are investigated and all parts are drawn in SolidWorks, so that the real weights and inertias for the simulation of the motion and a real implementation with reasonable control application could be done. Classic control algorithms such as P, PI, Pd and PID are applied to the real model with various parameters and the obtained results are compared. On the other hand a MATLAB model of the system is derived and simulation results of this model are then compared with real implementation results. Very closed results approved the success of the model with real implementation. © 2012 IEEE.

关键词： Propellers

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Human genome meeting 2016 : Houston, TX, USA. 28 February - 2 March 2016

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Human genomics 2016年第1期10 Suppl 1卷 12页

作者： A. K. Srivastava Y. Wang R. Huang C. Skinner T. Thompson L. Pollard T. Wood F. Luo R. Stevenson R. Polimanti J. Gelernter X. Lin I. Y. Lim Y. Wu A. L. Teh L. Chen I. M. Aris S. E. Soh M. T. Tint J. L. MacIsaac F. Yap K. Kwek S. M. Saw M. S. Kobor M. J. Meaney K. M. Godfrey Y. S. Chong J. D. Holbrook Y. S. Lee P. D. Gluckman N. Karnani A. Kapoor D. Lee A. Chakravarti C. Maercker F. Graf M. Boutros G. Stamoulis F. Santoni P. Makrythanasis A. Letourneau M. Guipponi N. Panousis M. Garieri P. Ribaux E. Falconnet C. Borel S. E. Antonarakis S. Kumar J. Curran J. Blangero S. Chatterjee J. Akiyama D. Auer C. Berrios L. Pennacchio T. R. Donti G. Cappuccio M. Miller P. Atwal A. Kennedy A. Cardon C. Bacino L. Emrick J. Hertecant F. Baumer B. Porter M. Bainbridge P. Bonnen B. Graham R. Sutton Q. Sun S. Elsea Z. Hu P. Wang Y. Zhu J. Zhao M. Xiong David A. Bennett A. Hidalgo-Miranda S. Romero-Cordoba S. Rodriguez-Cuevas R. Rebollar-Vega E. Tagliabue M. Iorio E. D’Ippolito S. Baroni B. Kaczkowski Y. Tanaka H. Kawaji A. Sandelin R. Andersson M. Itoh T. Lassmann Y. Hayashizaki P. Carninci A. R. R. Forrest C. A. Semple E. A. Rosenthal B. Shirts L. Amendola C. Gallego M. Horike-Pyne A. Burt P. Robertson P. Beyers C. Nefcy D. Veenstra F. Hisama R. Bennett M. Dorschner D. Nickerson J. Smith K. Patterson D. Crosslin R. Nassir N. Zubair T. Harrison U. Peters G. Jarvik F. Menghi K. Inaki X. Woo P. Kumar K. Grzeda A. Malhotra H. Kim D. Ucar P. Shreckengast K. Karuturi J. Keck J. Chuang E. T. Liu B. Ji A. Tyler G. Ananda G. Carter H. Nikbakht M. Montagne M. Zeinieh A. Harutyunyan M. Mcconechy N. Jabado P. Lavigne J. Majewski J. B. Goldstein M. Overman G. Varadhachary R. Shroff R. Wolff M. Javle A. Futreal D. Fogelman L. Bravo W. Fajardo H. Gomez C. Castaneda C. Rolfo J. A. Pinto K. C. Akdemir L. Chin S. Patterson C. Statz S. Mockus S. N. Nikolaev X. I. Bonilla L. Parmentier B. King F. Bezrukov G. Kaya V. Zoete V. Seplyarskiy H. Sharpe T. McKee K. Popadin N. Basset-Seguin R. Ben Chaabene M. Andrianova C. Verdan K. Grosdemange O. Sumara M. E JCSRI Greenwood Genetic Center Greenwood USA School of Computing Clemson University Clemson USA Biochemical Genetics Laboratory Greenwood Genetic Center Greenwood USA Department Psychiatry Yale Sch Med and VA CT Healthcare Center West Haven USA Department Genetics Yale Sch Med and VA CT Healthcare Center West Haven USA Department Neurobiology Yale Sch Med and VA CT Healthcare Center West Haven USA Singapore Institute for Clinical Sciences Singapore Singapore National University of Singapore Singapore Singapore University of British Columbia Vancouver Canada KK Women’s and Children’s Hospital Singapore Singapore University of Southampton and University Hospital Southampton NHS Foundation Trust Southampton UK University of Auckland Auckland New Zealand McKusick-Nathans Institute of Genetic Medicine Johns Hopkins University School of Medicine Baltimore USA Esslingen University of Applied Sciences Esslingen Germany German Cancer Research Center Heidelberg Germany Department of Genetic Medicine and Development University of Geneva Medical School Geneva Switzerland Geneva University Hospitals-HUG Service of Genetic Medicine Geneva Switzerland GE3 Institute of Genetics and Genomics of Geneva University of Geneva Medical School Geneva Switzerland South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Edinburg USA South Texas Diabetes and Obesity Institute School of Medicine University of Texas Rio-Grande Valley Brownsville USA Institute of Genetic Medicine Johns Hopkins University Baltimore USA Genomics Division Lawrence Berkeley National Laboratory Berkeley USA Molecular and Human Genetics Baylor College of Medicine Houston USA Department of Translational Medical Sciences Federico II University Naples Italy Metabolon Inc Durham USA Section of Pediatric Neurology and Neuroscience Baylor College of Medicine Houston USA Tawam Hospital Abu Dhabi United Arab Emirates Stanford Medical School Stanford USA Sch

O1 The metabolomics approach to autism: identification of biomarkers for early detection of autism spectrum disorder A. K. Srivastava, Y. Wang, R. Huang, C. Skinner, T. Thompson, L. Pollard, T. Wood, F. Luo, R. Stevenson O2 Phenome-wide association study for smoking- and drinking-associated genes in 26,394 American women with African, Asian, European, and Hispanic descents R. Polimanti, J. Gelernter O3 Effects of prenatal environment, genotype and DNA methylation on birth weight and subsequent postnatal outcomes: findings from GUSTO, an Asian birth cohort X. Lin, I. Y. Lim, Y. Wu, A. L. Teh, L. Chen, I. M. Aris, S. E. Soh, M. T. Tint, J. L. MacIsaac, F. Yap, K. Kwek, S. M. Saw, M. S. Kobor, M. J. Meaney, K. M. Godfrey, Y. S. Chong, J. D. Holbrook, Y. S. Lee, P. D. Gluckman, N. Karnani, GUSTO study group O4 High-throughput identification of specific qt interval modulating enhancers at the SCN5A locus A. Kapoor, D. Lee, A. Chakravarti O5 Identification of extracellular matrix components inducing cancer cell migration in the supernatant of cultivated mesenchymal stem cells C. Maercker, F. Graf, M. Boutros O6 Single cell allele specific expression (ASE) IN T21 and common trisomies: a novel approach to understand DOWN syndrome and other aneuploidies G. Stamoulis, F. Santoni, P. Makrythanasis, A. Letourneau, M. Guipponi, N. Panousis, M. Garieri, P. Ribaux, E. Falconnet, C. Borel, S. E. Antonarakis O7 Role of microRNA in LCL to IPSC reprogramming S. Kumar, J. Curran, J. Blangero O8 Multiple enhancer variants disrupt gene regulatory network in Hirschsprung disease S. Chatterjee, A. Kapoor, J. Akiyama, D. Auer, C. Berrios, L. Pennacchio, A. Chakravarti O9 Metabolomic profiling for the diagnosis of neurometabolic disorders T. R. Donti, G. Cappuccio, M. Miller, P. Atwal, A. Kennedy, A. Cardon, C. Bacino, L. Emrick, J. Hertecant, F. Baumer, B. Porter, M. Bainbridge, P. Bonnen, B. Graham, R. Sutton, Q. Sun, S. Elsea O10 A novel causal methylation network approach to Alzheimer’s

关键词： Pulmonary Arterial Hypertension Oral Squamous Cell Carcinoma Deep Neural Network Autosomal Recessive Polycystic Kidney Disease Whole Genome Bisulfite Sequencing

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Frictional characteristics measurement of a ceramic aerostatic linear bearing 5

Frictional characteristics measurement of a ceramic aerostat...

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5th International Conference on Advanced Micro-Device engineering, AMDE 2013

作者： Kitabata, Kouki Iwashita, Hiroshi Takita, Akihiro Djamal, Mitra Pornsuwancharoen, Nithiroth Fujii, Yusaku Education Program of Electronics and Informatics Mathematics and Physics Graduate School of Science and Technology Gunma University 1-5-1 Tenjin-cho Kiryu Gunma376-8515 Japan Depatment of Electronics Graduate School of Engineering Gunma University 1-5-1 Tenjin-cho Kiryu Gunma376-8515 Japan Division of Mechanical Sience and Technology Graduate School of Tecnology Gunma University 1-5-1 Tenjin-cho Kiryu Gunma376-8515 Japan Theoretical High Energy Physics and Instrumentation Research Group Faculty of Mathematics and Natural Sciences Institut Teknologi Bandung Jl. Ganesa 10 Bandung40132 Indonesia Department of Electrical Engineering Faculty of Industry and Technology Rajamangala University of Technology Isan Sakonnakon47160 Thailand

ISBN: (纸本)9783038354659

The resultant force acting on the moving part of the ceramic aerostatic linear bearing is measured highly accurately as the inertial force of the moving part of the bearing by means of the levitation mass method (LMM). The measurement results of the ceramic aerostatic linear bearing and metal aerostatic linear bearing of different mass are compared. The regression equation of the ceramic aerostatic linear bearing and metal aerostatic linear bearing are calculated. The ceramic linear bearing and metal linear bearing have extremely small frictional force.. © (2015) Trans Tech Publications, Switzerland.

关键词： Aerodynamics

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Answer Set programming for Reasoning with Semantic Knowledge in Collaborative Housekeeping Robotics

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IFAC Proceedings Volumes 2012年第22期45卷 77-83页

作者： Erdi Aker Volkan Patoglu Esra Erdem Computer Science and Engineering Faculty of Engineering and Natural Sciences Sabanci University Istanbul TURKEY Mechatronics Faculty of Engineering and Natural Sciences Sabanci University Istanbul TURKEY

Answer Set programming (ASP) is a knowledge representation and reasoning paradigm with high-level expressive logic-based formalism, and efficient solvers; it is applied to solve hard problems in various domains, such as, systems biology, wire routing, space shuttle control. In this paper, we present an application of ASP to housekeeping robotics, by showing how the following problems are addressed using computational methods/tools of ASP: 1) embedding commonsense knowledge automatically extracted from the commonsense knowledge base ConceptNet, into high-level representation, 2) embedding (continuous) geometric reasoning and temporal reasoning about durations of actions, into (discrete) high-level reasoning. We illustrate the applicability of ASP on several housekeeping robotics problems, and report on the computational efficiency in terms of CPU time and memory.

关键词： Knowledge representation reasoning housekeeping robotics answer set programming commonsense knowledge

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Modeling and simulation of a horizontal axis Wind Turbine using S4WT

Modeling and simulation of a horizontal axis Wind Turbine us...

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International Conference on Renewable Energy Research and Applications (ICRERA)

作者： Sanem Evren Mustafa Unel Omer K. Adak Kemalettin Erbatur Mahmut F. Aksit Mechatronics Engineering Faculty of Engineering and Natural Sciences Sabanci University Turkey

In this paper, modeling and simulation of a 500 KW prototype wind turbine that is being developed in the context of the MILRES (National Wind Energy Systems) Project in Turkey are presented. This prototype wind turbine has a nominal power of 500 KW at a nominal wind speed of around 11 m/s. Aerodynamic, mechanical, electrical and control models are built in S4WT (Samcef for Wind Turbines) environment. Kaimal turbulence model have been used to generate realistic wind profiles in Turbsim that can be integrated with S4WT. The standard components (tower, bedplate, rotor, rotor shaft, gearbox, generator and coupling shaft) consisting of Samcef elements (bush, hinge, beam) have been used compatible with the IEC 61400-1 in S4WT to perform the simulations. The pitch and torque controllers are used to achieve the ideal power curve. A pitch function and a PI controller with gain scheduling have been used to control the pitch angle of the blades to limit the power at the full load operating region. The generator torque which consists of an optimal mode gain method, is used to control the power at both partial and full load operating regions. The performance analysis of 500 KW wind turbine prototype is done under different scenarios including power production, start up, emergency stop, shut down and parked, and the simulation results are presented.

关键词： Wind turbines Generators Wind speed Rotors Torque Shafts Prototypes

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Position control of a seesaw like platform by using a thrust propeller

Position control of a seesaw like platform by using a thrust...

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International Workshop on Advanced Motion Control (AMC)

作者： Erol Uyar Turgay Akdogan Onur Keskin Lutfi Mutlu Mechanical Engineering Engineering Faculty Dokuz Eylul University Izmir Turkey Mechatronics Engineering The Graduate School of Natural and Applied Sciences Dokuz Eylul University Izmir Turkey

关键词： Propellers Mathematical model Atmospheric modeling Force Aerodynamics Blades Heuristic algorithms

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Dual Band UHF RFID Antenna

Dual Band UHF RFID Antenna

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Telecommunications Forum

作者： Suvad Selman Nesibe Merve Demir Moamer Hasanovic Electrical and Electronics Engineering Program Faculty of Engineering and Natural Sciences International University of Sarajevo

ISBN: (纸本)9781467329835

Radio Frequency Identification (RFID) systems have been extensively used in many important applications in recent years. The band allocated to RFID technology in the UHF band differs from continent to continent but there are two main, 800MHz used in Europe and the some Asian countries while in the USA, Japan and Australia they use 900 MHz frequency band. A 2-element planar RFID antenna for RFID readers in a low cost compact package is developed. The smart antenna covers both bands that are used and therefore goods that are tagged and coming from one part of the world can be recognized on the other part of the world. Microstrip circular antenna loaded with a U-shape slot is developed because of their planar structure, low profile, and ease of integration with other circuit components.

关键词： Radio Frequency Identification (RFID) dual band RFID antenna microstrip circular antenna slot antenna

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