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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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XXIV World Allergy Congress 2015 Seoul, Korea. 14-17 October 2015 Abstracts

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WORLD ALLERGY ORGANIZATION JOURNAL 2016年第1期9卷 1-206页

作者： [Anonymous] Korea University College of Medicine Guro Hospital Seoul South Korea College of Medicine Korea University Seoul South Korea Korea University Guro Hospital Seoul South Korea Seoul National University Boramae Hospital Seoul South Korea Division of Clinical Immunology Faculty of Medicine University of Debrecen Debrecen Hungary Meiji Pharmaceutical University Tokyo Japan Suri Medical Foundation Hospital Uttar Pradesh State India Shahid Beheshti University Tehran Iran Airlangga University Teaching Hospital Surabaya Indonesia Tokyo Metropolitan Police Hospital Tokyo Japan Shinichiro KogaSamsung Changwon Hospital Seoul South Korea Sapporo Tokushukai Hospital Sapporo Japan Department of Dermatology Yonsei University College of Medicine Seoul South Korea Brain Korea 21 PLUS Project for Medical Science Yonsei University College of Medicine Seoul South Korea Sureyyapasa Chest Diseases and Chest Surgery Training Hospital Istanbul Turkey Kangnam Sacred Heart Hospital Seoul South Korea Sakai City Medical Center Sakai Japan Osaka University Suita Japan Yonsei University College of Medicine Seoul South Korea Osaka-Minami Medical Center Kawachinagano Japan Inha University College of Medicine Incheon South Korea Inha University Hospital Incheon South Korea Center for Rhinology and Allergology Wiesbaden Wiesbaden Germany Leti Pharma Gmbh Witten Germany Postgraduate Institute of Medical Education and Research Chandigarh India West Bengal Technical University Kolkata India Institute of Microbiology Academy of Sciences of the Czech Republic Prague Czech Republic Seoul National University Hospital Seoul South Korea Ent and Allergy Centre(INDIA) Panchkula India University of Santo Tomas Hospital Manila Philippines University of Santo Tomas Faculty of Medicine Manila Philippines Kyung Hee University Hospital at Gang-Dong Seoul South Korea Sangji University Wonju South Korea Division of Allergy and Immunology Department of Internal Medicine Yonsei University Colle

A1 Pirfenidone inhibits TGF-b1-induced extracellular matrix production in nasal polyp-derived fibroblasts Jae-Min Shin, Heung-Man Lee, Il-Ho Park A2 The efficacy of a 2-week course of oral steroid in the treatment of chronic spontaneous urticaria refractory to antihistamines Hyun-Sun Yoon, Gyeong Yul Park A3 The altered distribution of follicular t helper cells may predict a more pronounced clinical course of primary sjögren’s syndrome Margit Zeher A4 Betamethasone suppresses Th2 cell development induced by langerhans cell like dendritic cells Katsuhiko Matsui, Saki Tamai, Reiko Ikeda A5 An evaluation of variousallergens in cases of allergic bronchial asthma at lucknow and neighbouring districts by intradermal skintest Drsushil Suri, Dranu Suri A6 Evaluation ferqency of ADHD in childhood asthma Marzieh Heidarzadeh Arani A7 Steven johnson syndrome caused by typhoid fever in a child Azwin Lubis, Anang Endaryanto A8 Chronic Bronchitis with Radio Contrast Media Hypersensitivity: A Case with Hypothesized GINA Step 1 Asthma Shinichiro Koga A9 The association between asthma and depression in Korean adult : An analysis of the fifth korea national health and nutrition examination survey (2010-2012) Lee Ju Suk A10 Management of allergic disease exacerbations in pregnancy Yasunobu Tsuzuki A11 Subcutaneous immunotherapy mouse model for atopic dermatitis Seo Hyeong Kim, Jung U Shin, Ji Yeon Noh, Shan Jin, Shan Jin, Hemin Lee, Jungsoo Lee, Chang Ook Park, Kwang Hoon Lee, Kwang Hoon Lee A12 Atopic disease and/or atopy are risk factors for local anesthetic allergy in patients with history of hypersensitivity reactions to drugs? Fatma Merve Tepetam A13 Food hypersensitivity in patients with atopic dermatitis in Korea Chun Wook Park, Jee Hee Son, Soo Ick Cho, Yong Se Cho, Yun Sun Byun, Yoon Seok Yang, Bo Young Chung, Hye One Kim, Hee Jin Cho A14 Anaphylaxis caused by an ant (Brachyponera chinensis) in Japan Yoshinori Katada, Toshio Tanaka, Akihiko Nakabayashi, Koji Nishida, Kenichi A

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Oxidative Stable Cu 3 Sn nanoparticles for Novel Electrode Fabrication Using Pressure Under Ambient Condition

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ECS Meeting Abstracts 2014年第49期MA2014-02卷

作者： Sanghun Cho Keon-Hee Lim Jeeyoung Yoo Si Yun Park Youngmin Park Youn Sang Kim Seoul National University Seoul National University The Graduate School of Convergence Science and Technology Program in Nano Science and Technology 864-1 Iui-dong Yeongtong-gu Suwon-si Gyeonggi-do Korea

Manufacturing methods of conductive electrode is essential technology for printable electronics such as radio frequency identification tags (RFID), thin film transistor (TFT), ultra high frequency antennas and solar cell. Various fabrication methods of electrodes for printable electronics have been suggested to screen printing, gravure printing and inkjet printing. However, these methods have difficulties to the control of printing pressure, thickness, nozzle blocking, viscosity of ink and coffee ring effect. New technique for electrode for printable electronics needs to perform at room temperature and ambient condition. In addition, copper nanoparticles are good prospective candidate to replace high cost silver because of low-cost, abundant deposit and high conductivity. However, copper nanoparticles have the limitation which is highly oxidative materials and these drawbacks limited practical printing process. To overcome these limitations, conductive materials for electrodes requires high oxidative stable nanoparticles and low cost materials. In this study, we synthesized high oxidative stable, conductive Cu3Sn nanoparticles and fabricated electrode by pressure assisted method at room temperature and ambient condition. Prepared Cu3Sn nanoparticles were confirmed using X-ray diffraction (XRD) and Energy Dispersive X-ray Spectrum (EDS) with High Angle Annular Dark-Field Scanning TEM (HAADF-STEM). Measurement of electrical conductivity was carried out with the 4-point probe methods depending on various value of pressure. The conductive electrodes were obtained by pressure at 530MPa and showed electrical resistivity of less than 19.8 µΩ cm. Electrical resistivity of fabricated electrodes is similar to that of bulk Cu3Sn material (8.8. µΩ•cm). This result is caused by numerous and three dimensional contact of each conductive nanoparticle. To investigate the contact of each nanoparticle, Cross-sectional TEM analysis of pressed nanoparticles was performed. Also, we analy

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Epitaxial Ge growth on Si(001) substrates and in-situ doping using UHV-CVD

Epitaxial Ge growth on Si(001) substrates and in-situ doping...

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2013 IEEE 10th International Conference on Group IV Photonics, GFP 2013

作者： Shin, Keun Wook Yoon, Euijoon Departmant of Materials Science and Engineering Seoul National University Korea Republic of Department of Materials Science and Engineering Seoul National University Korea Republic of Department of Nano Science and Technology Graduate School of Convergence Science and Technology Seoul National University Korea Republic of

ISBN: (纸本)9781467358040

Monolithic integration of photonic devices with electronics has attracted interest and there has been growing interest in photonic devices based on Si-compatible materials. Ge has a bandgap of 0.67 eV at room temperature and high absorption coefficient in the range of 1.3 - 1.55 μm. Furthermore, when biaxial tensile stress is applied to Ge, it transforms from an indirect to a direct bandgap material and optical properties are improved.[1] Such properties of Ge enable the application to the optoelectronic devices such as an emitter and a detector. Ge epitaxial growth on a Si substrate is a promising technology because it can induce thermal tensile strain in Ge and make possible to integrate Ge optical devices on Si CMOS platform. In order to adapt Ge epitaxial layers on devices, the great challenge is the lattice mismatch of 4.2% between Ge and Si. This mismatch causes rough surface with island formation which hinder the device process and generates a high density of threading dislocations on the order of 108 cm-2 which act as non-radiative recombination centers, degrading the performance of Ge devices. To overcome such limits, two-step Ge growth has been suggested which uses Ge layers grown at low temperature(LT).[2] In two-step growth, the LT Ge works as a buffer layer which provides nucleation sites for misfit dislocation and inhibits the propagation of threading dislocation by generating point defects. Thus, the optimized buffer layer is needed to grow high quality Ge epitaxial layer on Si. Furthermore, in-situ doping of Ge is desirable due to the potential to form p-n junction without any ion implantation damage. In this study, we investigated the growth conditions for the two-step Ge growth and in-situ boron doping was proceeded. © 2013 IEEE.

关键词： Optical properties

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Using music notation for teaching computer programming

Using music notation for teaching computer programming

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21st International Conference on Computers in Education, ICCE 2013

作者： Ko, Eunjeong Lee, Kyogu Music and Audio Research Group Graduate School of Convergence Science and Technology Seoul National University Korea Republic of

ISBN: (纸本)9786028040723

Despite the wealth of educational programming languages, many novice programmers face difficulties and give up in the early stages, just because they are not familiar with the programming syntax and semantics. In this paper, we propose a method for programming langauge education using music notation with an aim to entice novice programmers to write their own programs. There are two key aspects in our proposed approach: first, we use music notation as an analogy to programming, based on the observation that there are similar attributes between the two;second, we provide users with on-line auditory feedback to immediately notify potential errors in a pleasant way. We find several key concepts in programming language syntax and semantics, and translate them into music notation to help beginner programmers learn them with ease and intuition. In addition, we design examples and a learning support environment, allowing users to learn to program by themselves.

关键词： Computer programming languages

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Erratum to “TiO 2 -poly(4-vinylphenol) nanocomposite dielectrics for organic thin film transistors” [Org. Electron. 14 (2013) 3406–3414]

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Organic Electronics 2014年第2期15卷 640-640页

作者： Young-Jae Kim Joohee Kim Youn Sang Kim Jin-Kyu Lee Department of Chemistry Seoul National University Seoul 151-747 Republic of Korea Department of Nano Science & Technology Graduate School of Convergence Science and Technology Seoul National University Seoul 151-742 Republic of Korea

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Reformer-Integrated Thin-Film Solid Oxide Fuel Cell for Ethanol Fuel

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ECS Meeting Abstracts 2014年第20期MA2014-02卷

作者： Sungmin Kang Ikwhang Chang Suk Won Cha Mechanical and aerospace engineering department Seoul National University Graduate School of Convergence Science and Technology Seoul National University

Ethanol reformer and thin-film solid oxide fuel cell are integrated on single nano-porous anodic aluminum oxide(AAO) substrate. Manganese doped cobalt catalyst is utilized as fuel reformer which is deposited on one side of the substrate, and thin-film single cell is fabricated on another side of the AAO, which is made of Pt, Ru and YSZ thin films. Electrochemical performance is tested at 500℃, in the electrical heater, supplied by fuel-water bubbled inert gas stream. Fuel-water saturated inert gas flows into the reformer, and becomes hydrogen gas, COx, methane, etc. Reformed gas diffuses from reformer to single cell anode, passing through the nano-pores of AAO substrate. Although many carbon-containing substances such as COx or methane are chemically formed, the anode of single cell operates for considerably long time while maintaining high performance, because ruthenium in anode layer protects the catalyst particles from poisoning. This reformer-integrated cell structure acts as a direct-hydrocarbon fuel cell.

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The Morphology and Electrochemical Properties of Pt and GDC nano Composite Films Using Co-Sputtering Method

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ECS Meeting Abstracts 2014年第51期MA2014-02卷

作者： Yoon Ho Lee Suk Won Cha Gu Young Cho Sanghoon Ji Joonho Park Ikwhang Chang Seoul National University School of mechanical and aerospace engineering Mechanical and aerospace engineering department Seoul National University School of mechanical and aerospace engineering Seoul national university Graduate School of Convergence Science and Technology (GSCST) Seoul National University Graduate School of Convergence Science and Technology Seoul National University

Solid oxide fuel cell (SOFC) has a potential of next generation energy conversion device for high energy conversion rate and clean emission. However it requires high temperature above 800oC due to low kinetics of electrolyte and electrode materials. Lowering operating temperature to 400~600oC allows high system stability, various material selection, fast start-up and convenient sealing. There were several studies to lower the operating temperature with structural and material approach. Among these, application of nano fabrication to electrode and electrolyte is one of the most promising candidates because thickness of electrolyte and TPB density of electrodes are strongly affects to the cell performance. Up to now, several structures and materials for low temperature operation have been presented however, PVD based nano-porous Pt is dominantly used for cathode because conventional mixed conducting oxides shows poor electronic conduction and large overpotential at a certain temperature between 400~600oC. Pt electrodes for LT-SOFCs are usually fabricated by physical vapor deposition (PVD) to increase TPB density because it can easily control grain and pore size into nanometer scale. However increased surface energy and mobility of nano sized Pt accelerates coarsening even at a low temperature operation. In a metallurgical research area, several methods to enhance heat resistance of metals and one of the most effective methods are known as dispersion hardening. By uniform dispersion (<1% by weight) of thermally stable oxide nano particles (<50nm) in to metals, it prevents thermal degradation even in a high temperature. In this research we used GDC as a dispersion oxide material to enhance physical and electrochemical property of Pt because it has high ionic conductivity and electronic conductivity among oxide electrolytes. Pt & GDC nano composite electrodes were fabricated under co-sputtering using Pt and GDC target. 50mtorr of argon background gas pressure was maintai

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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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SU-E-T-30: Absorbed Doses Determined by Texture Analysis of Gafchromic EBT3 Films Using Scanning Electron Microscopy: A Feasibility Study

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Medical Physics 2014年第6PART11期41卷 228-228页

作者： S Park H Kim S Ye Interdisciplinary Program in Radiation Applied Life Science Seoul National University College of Medicine Seoul Korea Department of Radiation Oncology Seoul National University Hospital Seoul Korea Program in Biomedical Radiation Sciences Department of Transdisciplinary Studies Graduate School of Convergence Science and Technology Seoul National University Suwon Korea

Purpose: The texture analysis method is useful to estimate structural features of images as color, size, and shape. The study aims to determine a dose-response curve by texture analysis of Gafchromic EBT3 film images using scanning electron microscopy (SEM). Methods: The uncoated Gafchromic EBT3 films were prepared to directly scan over the active surface layer of EBT3 film using SEM. The EBT3 films were exposed at a dose range of 0 to 10 Gy using a 6 MV photon beam. The exposed film samples were SEM-scanned at 100X, 1000X, and 3000X magnifications. The four texture features (Homogeneity, Correlation, Contrast, and Energy) were calculated based on the gray level co-occurrence matrix (GLCM) derived from the SEM images at each dose. To validate a correlation between delivered doses and texture features, an R-squared value in linear regression was tested. Results: The results showed that the Correlation index was more suitable as dose indices than the other three texture features due to higher linearity and sensitivity of the dose response curves. Further the Correlation index of 3000X magnified SEM images with 9 pixel offsets had an R-squared value of 0.964. The differences between the delivered doses and the doses measured by this method were 0.9, 1.2, 0.2, and 0.2 Gy at 5, 10, 15, and 20 Gy, respectively. Conclusion: It seems to be feasible to convert micro-scale structural features of χ t χχχ he EBT3 films to absorbed doses using the texture analysis method.

关键词： Scanning electron microscopy Thin film structure Image color analysis Photons Rough surfaces Linear regression

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