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Publisher Correction: Rare variant analyses in 51,256 type 2 diabetes cases and 370,487 controls reveal the pathogenicity spectrum of monogenic diabetes genes

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Nature genetics 2024年第11期56卷 2576页

作者： Alicia Huerta-Chagoya Philip Schroeder Ravi Mandla Jiang Li Lowri Morris Maheak Vora Ahmed Alkanaq Dorka Nagy Lukasz Szczerbinski Jesper G S Madsen Silvia Bonàs-Guarch Fanny Mollandin Joanne B Cole Bianca Porneala Kenneth Westerman Josephine H Li Toni I Pollin Jose C Florez Anna L Gloyn David J Carey Inês Cebola Uyenlinh L Mirshahi Alisa K Manning Aaron Leong Miriam Udler Josep M Mercader Programs in Metabolism and Medical & Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. Diabetes Unit Massachusetts General Hospital Boston MA USA. Graduate Program in Genomics and Computational Biology University of Pennsylvania Philadelphia PA USA. Department of Genomic Health Geisinger Danville PA USA. Section of Genetics and Genomics Department of Metabolism Digestion and Reproduction Imperial College London London UK. National Heart and Lung Institute Faculty of Medicine London UK. Department of Endocrinology Diabetology and Internal Medicine Medical University of Bialystok Bialystok Poland. Clinical Research Centre Medical University of Bialystok Bialystok Poland. Institute of Mathematics and Computer Science University of Southern Denmark Odense Denmark. The Novo Nordisk Foundation Center for Genomic Mechanisms of Disease Broad Institute of MIT and Harvard Cambridge MA USA. Department of Biochemistry and Molecular Biology University of Southern Denmark Odense Denmark. Centre for Genomic Regulation The Barcelona Institute of Science and Technology Barcelona Spain. Centro de Investigación Biomédica en Red de Diabetes y Enfermedades Metabólicas Asociadas Madrid Spain. Department of Metabolism Digestion and Reproduction Imperial College London London UK. Department of Medicine Harvard Medical School Boston MA USA. Division of Endocrinology Boston Children's Hospital Boston MA USA. Department of Biomedical Informatics University of Colorado School of Medicine Aurora CO USA. Division of General Internal Medicine Massachusetts General Hospital Boston MA USA. Department of Medicine Massachusetts General Hospital Boston MA USA. University of Maryland School of Medicine Baltimore MD USA. Endocrine Division Massachusetts General Hospital Boston MA USA. Department of Pediatrics Division of Endocrinology Stanford School of Medicine Stanford

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Comparative analysis of RC4+ algorithm, RC4 NGG algorithm and RC4 GGHN algorithm on image file security

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IOP Conference Series: Materials Science and Engineering 2018年第1期420卷

作者： F Akbar H Mawengkang S Efendi Master Program (S2) of Informatics Engineering Faculty of Computer Science and Information Technology Universitas Sumatera Utara Medan Indonesia. Department of Mathematics University Sumatera Utara Medan Indonesia. Faculty of Computer Science and Information Technology University of Sumatera Utara Medan Indonesia.

File security is very important in maintaining the confidentiality of the information contained in the file. For that we need a way for information to be kept secrecy, that is with the science of cryptography. Cryptography is one method that disguises data to form encrypted data. In the symmetric RC4+ (Ron Code or Rivest's Cipher) algorithm, it provides secure message security and is an efficient stream cipher. RC4 NGG stream cipher algorithm 3-5 times faster than RC4 algorithm and but still have weakness in KSA randomization. The RC4 GGHN stream cipher algorithm is based on the RC4 algorithm and is relatively more efficient but still has weaknesses. Based on literature review from several research sources, it was stated that RC4+, RC4 NGG, RC4 GGHN are algorithms that are faster and more efficient than RC4 algorithm. Therefore, it is necessary to compare the encryption process with the aim of comparing and knowing which algorithm is better from running time and algorithm complexity. In this research we will perform two tests on each algorithm, image encryption using different key length and same image size and image encryption using the same key length and different image size. The results obtained in this research is RC4 NGG algorithm is the fastest algorithm between the three algorithms that is 13.3% faster than RC4+ and 10.2% faster than RC4 GGHN where the key lengths used in encryption do not affect the processing time and image size used in encryption very affects the processing time.

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Innovative Smart Forest Management

Innovative Smart Forest Management

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2016第三届全球知识经济大会——2016第六届低碳地球峰会、2016第六届国际新能源产业大会、2016第五届国际新兴信息及通讯技术产业大会

作者： Kamen Spassov Mariyana Lyubenova Alexander Chikalanov Yuri Pavlov Master's Degree Program "e-Business and e-Governance"Faculty of Mathematics and Informatics Sofia University

The multifunctional importance of a forest ecosystem as an example of an ecosystem unit is often the reason for contradictions and conflicts between economic,social and environmental *** propose a value based model(VBM) for an integrated assessment of economic,ecological and social forest ecosystems *** model is applicable for monitoring and innovative ecological management of forest areas and allowing the sustainable development of business and used forest *** the modeling purposes,we accept tree ecological indicators(factors),which describe adequately the main *** factors are:timber reserves in ***-l for the assessment of economic effects(material services);species richness,***-1,for the assessment of ecological effect(regulating and supporting services) and percentage of population employed in the forestry sector for the assessment of social effects or *** model represents a multi-attribute utility function,developed on the Decision making theory,Utility theory and stochastic approximation technic used as machine *** calculate utility functions using the preferences of the Decision maker(DM),professional in forest ecology and environmental *** proposed Decision Support System(DSS) integrates few models designated to support an adaptive ecological management of forest areas to achieve their sustainable development and operation as a natural source of ecosystem *** innovative smart system focuses on managing the material services provided by forest *** model relays on key indicators to assess the status of stocks and listed material resources and ball scale through which it provides a synthesized assessment priority and reliable use of business *** propose an innovative approach for estimation of cost efficiency of ecosystem management

关键词： Innovative Smart Forest Management

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Luminescence study and Judd-Ofelt analysis of CaO-BaO-P 2 O 5 glasses doped with Nd 3+ ions

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Materials Today: Proceedings 2017年第5期4卷 6091-6098页

作者： N. Chanthima J. Kaewkhao Y. Tariwong N. Sangwaranatee N.W. Sangwaranatee Physics Program Faculty of Science and Technology Nakhon Pathom Rajabhat University Nakhon Pathom 73000 Thailand Center of Excellence in Glass Technology and Materials Science (CEGM) Nakhon Pathom Rajabhat University Nakhon Pathom 73000 Thailand Applied Physics Faculty of Science and Technology Suan Sunandha Rajabhat University Bangkok 10300 Thailand Informatics Mathematics Faculty of Science and Technology Suan Sunandha Rajabhat University Bangkok 10300 Thailand

Neodymium (Nd 3+ ) doped calcium barium phosphate glasses have been studied in different concentration of Nd 3+ ions. The absorption and luminescence spectra, the Judd–Ofelt (JO) intensity parameters Ω 2,4,6 and other radiative properties, which is radiative transition probabilities ( A R ), stimulated emission cross-sections (σ(λ p ) and branching ratios ( β R ) were calculated. These glass samples have shown strong absorption bands in the visible (VIS) and near-infrared (NIR) region. The emission spectra of glass samples have exhibited three emission transitions, which are assigned to 4 F 3/2 → 4 I 9/2 , 4 F 3/2 → 4 I 11/2 and 4 F 3/2 → 4 I 13/2 transitions, respectively. Also, the results obtained were compared with reports on similar glasses.

关键词： Judd-Ofelt analysis Luminescence Neodymium Phosphate glasses

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Single‐cell eQTLGen Consortium: A personalized understanding of disease

arXiv

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arXiv 2019年

作者： van der Wijst, M.G. de Vries, D.H. Groot, H.E. Trynka, G. Hon, C.C. Nawijn, M.C. Idaghdour, Y. van der Harst, P. Ye, C.J. Powell, J. Theis, F.J. Mahfouz, A. Heinig, M. Franke, L. Department of Genetics Oncode Institute University of Groningen University Medical Center Groningen Groningen Netherlands Department of Cardiology University of Groningen University Medical Center Groningen Groningen Netherlands Wellcome Trust Sanger Institute Open Targets Wellcome Genome Campus Hinxton Cambridge United Kingdom RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Pathology and Medical Biology GRIAC Research institute University of Groningen University Medical Center Groningen Netherlands Program in Biology Public Health Research Center New York University Abu Dhabi United Arab Emirates Institute for Human Genetics Bakar Computational Health Sciences Institute Bakar ImmunoX Initiative Division of Rheumatology Department of Medicine Department of Bioengineering and Therapeutic Sciences Department of Epidemiology and Biostatistics Chan Zuckerberg Biohub University of California San Francisco San Francisco United States Garvan‐Weizmann Centre for Cellular Genomics Garvan Institute Sydney Australia UNSW Cellular Genomics Futures Institute University of New South Wales Sydney Australia Institute of Computational Biology Helmholtz Zentrum München Neuherberg Germany Department of Mathematics Technical University of Munich Garching bei München Germany Leiden Computational Biology Center Leiden University Medical Center Leiden Netherlands Delft Bioinformatics Lab Delft University of Technology Delft Netherlands Institute of Computational Biology Helmholtz Zentrum München Neuherberg Germany Department of Informatics Technical University of Munich Garching bei München Germany

In recent years, functional genomics approaches combining genetic information with bulk RNA-sequencing data have identified the downstream expression effects of disease‐associated genetic risk factors through so‐called expression quantitative trait locus (eQTL) analysis. Single‐cell RNA-sequencing creates enormous opportunities for mapping eQTLs across different cell types and in dynamic processes, many of which are obscured when using bulk methods. The enormous increase in throughput and reduction in cost per cell now allow this technology to be applied to large‐scale population genetics studies. Therefore, we have founded the single‐cell eQTLGen consortium (sc-eQTLGen), aimed at pinpointing disease‐causing genetic variants and identifying the cellular contexts in which they affect gene expression. Ultimately, this information can enable development of personalized medicine. Here, we outline the goals, approach, potential utility and early proofs‐of-concept of the sc‐eQTLGen consortium. We also provide a set of study design considerations for future single‐cell eQTL studies. Copyright © 2019, The Authors. All rights reserved.

关键词： RNA

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Forecasting: theory and practice

arXiv

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arXiv 2020年

作者： Petropoulos, Fotios Apiletti, Daniele Assimakopoulos, Vassilios Babai, Mohamed Zied Barrow, Devon K. Taieb, Souhaib Ben Bergmeir, Christoph Bessa, Ricardo J. Bijak, Jakub Boylan, John E. Browell, Jethro Carnevale, Claudio Castle, Jennifer L. Cirillo, Pasquale Clements, Michael P. Cordeiro, Clara Oliveira, Fernando Luiz Cyrino de Baets, Shari Dokumentov, Alexander Ellison, Joanne Fiszeder, Piotr Franses, Philip Hans Frazier, David T. Gilliland, Michael Gönül, M. Sinan Goodwin, Paul Grossi, Luigi Grushka-Cockayne, Yael Guidolin, Mariangela Guidolin, Massimo Gunter, Ulrich Guo, Xiaojia Guseo, Renato Harvey, Nigel Hendry, David F. Hollyman, Ross Januschowski, Tim Jeon, Jooyoung Jose, Victor Richmond R. Kang, Yanfei Koehler, Anne B. Kolassa, Stephan Kourentzes, Nikolaos Leva, Sonia Li, Feng Litsiou, Konstantia Makridakis, Spyros Martin, Gael M. Martinez, Andrew B. Meeran, Sheik Modis, Theodore Nikolopoulos, Konstantinos Önkal, Dilek Paccagnini, Alessia Panagiotelis, Anastasios Panapakidis, Ioannis Pavía, Jose M. Pedio, Manuela Pedregal, Diego J. Pinson, Pierre Ramos, Patrícia Rapach, David E. Reade, J. James Rostami-Tabar, Bahman Rubaszek, Michal Sermpinis, Georgios Shang, Han Lin Spiliotis, Evangelos Syntetos, Aris A. Talagala, Priyanga Dilini Talagala, Thiyanga S. Tashman, Len Thomakos, Dimitrios Thorarinsdottir, Thordis Todini, Ezio Arenas, Juan Ramón Trapero Wang, Xiaoqian Winkler, Robert L. Yusupova, Alisa Ziel, Florian School of Management University of Bath United Kingdom Politecnico di Torino Turin Italy Forecasting and Strategy Unit School of Electrical and Computer Engineering National Technical University of Athens Greece Kedge Business School France Department of Management Birmingham Business School University of Birmingham United Kingdom Belgium Faculty of Information Technology Monash University Melbourne Australia INESC TEC – Institute for Systems and Computer Engineering Technology and Science Porto Portugal Department of Social Statistics and Demography University of Southampton United Kingdom Centre for Marketing Analytics and Forecasting Lancaster University Management School Lancaster University United Kingdom School of Mathematics and Statistics University of Glasgow United Kingdom Department of Mechanical and Industrial Engineering University of Brescia Italy Magdalen College University of Oxford United Kingdom ZHAW School of Management and Law Zurich University of Applied Sciences Switzerland ICMA Centre Henley Business School University of Reading United Kingdom Faculdade de Ciências e Tecnologia Universidade do Algarve Portugal CEAUL Faculdade de Ciências Universidade de Lisboa Portugal Brazil Department of Business Informatics and Operations Management Faculty of Economics and Business Administration Universiteit Gent Belgium Let’s Forecast Australia Faculty of Economic Sciences and Management Nicolaus Copernicus University in Torun Poland Econometric Institute Erasmus School of Economics Rotterdam Netherlands Department of Econometrics and Business Statistics Monash University Melbourne Australia SAS United States Newcastle Business School Northumbria University Newcastle upon Tyne United Kingdom Department of Statistical Sciences University of Padua Italy Darden School of Business University of Virginia United States Finance Department Bocconi University Baffi-CAREFIN Centre Milan Italy Department of Tourism and Service Management MODUL Un

Forecasting has always been at the forefront of decision making and planning. The uncertainty that surrounds the future is both exciting and challenging, with individuals and organisations seeking to minimise risks and maximise utilities. The large number of forecasting applications calls for a diverse set of forecasting methods to tackle real-life challenges. This article provides a non-systematic review of the theory and the practice of forecasting. We provide an overview of a wide range of theoretical, state-of-the-art models, methods, principles, and approaches to prepare, produce, organise, and evaluate forecasts. We then demonstrate how such theoretical concepts are applied in a variety of real-life contexts. We do not claim that this review is an exhaustive list of methods and applications. However, we wish that our encyclopedic presentation will offer a point of reference for the rich work that has been undertaken over the last decades, with some key insights for the future of forecasting theory and practice. Given its encyclopedic nature, the intended mode of reading is non-linear. We offer cross-references to allow the readers to navigate through the various topics. We complement the theoretical concepts and applications covered by large lists of free or open-source software implementations and publicly-available databases. © 2020, CC BY.

关键词： Forecasting

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Genome-wide association study of long COVID

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Nature Genetics 2025年 1-16页

作者： Lammi, Vilma Nakanishi, Tomoko Jones, Samuel E. Andrews, Shea J. Karjalainen, Juha Cortés, Beatriz O’Brien, Heath E. Ochoa-Guzman, Ana Fulton-Howard, Brian E. Broberg, Martin Haapaniemi, Hele H. Kanai, Masahiro Pirinen, Matti Schmidt, Axel Mitchell, Ruth E. Mousas, Abdou Mangino, Massimo Huerta-Chagoya, Alicia Sinnott-Armstrong, Nasa Cirulli, Elizabeth T. Vaudel, Marc Kwong, Alex S. F. Maiti, Amit K. Marttila, Minttu M. Posner, Daniel C. Rodriguez, Alexis A. Batini, Chiara Minnai, Francesca Dearman, Anna R. Warmerdam, C. A. Robert Sequeros, Celia B. Winkler, Thomas W. Jordan, Daniel M. Rešcenko, Raimonds Miano, Lorenzo Lane, Jacqueline M. Chung, Ryan K. Guillen-Guio, Beatriz Leavy, Olivia C. Carvajal-Silva, Laura Aguilar-Valdés, Kevin Frangione, Erika Guare, Lindsay Vergasova, Ekaterina Marouli, Eirini Striano, Pasquale Zainulabid, Ummu Afeera Kumar, Ashutosh Ahmad, Hajar Fauzan Edahiro, Ryuya Azekawa, Shuhei Maj, Carlo Pensel, Max C. Miller, Abigail Nöthen, Markus M. Behzad, Pari Schultz, Sonja Heggemann, Julia Balla, Daniella Morrison, David R. Mooser, Vincent Perley, Danielle Ragoussis, Jiannis Rousseau, Simon Shi, Fangyi Lathrop, G. Mark Yanishevsky, Solomia Laurent, Laetitia Auld, Daniel Bertrand, Mylene Boisclair, Ariane Bourque, Guillaume Bujold, David Durand, Madeleine Adra, Darin St-Cyr, Janick Niemi, Mari E. K. Iyengar, Sudha K. Cai, Tianxi Cho, Kelly Sarvadhavabhatla, Sannidhi Donaire, Maria Sophia Valenzuela-Jorquera, Héctor Lamoza, Eduardo Arévalo, Tamara V. Retamales-Ortega, Rocío Sanhueza, Sergio Selman, Carolina S. Silva, Andrea X. Alarcon, Teresa A. Martínez, Matías F. Quiroga, Romina Zuñiga-Pacheco, Paula Zapata-Contreras, Daniela Yáñez, Cristian E. Quiñones, Luis A. Tobar-Calfucoy, Eduardo A. Monardes-Ramírez, Virginia A. Signore, Iskra A. Guajardo, Lissette G. Figueroa, Alvaro Oróstica, Karen Y. Muñoz, Christian A. Fuentes-Guajardo, Macarena Bocchieri, Pamela Cabrera, Camilo Echeverria, Cesar A. Cerpa, Leslie C. Donoso, Gerardo Gutiérrez-Richards, Scarlett Nova-Lamperti, Estefania Saez Hidalgo Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Department of Human Genetics McGill University Montreal QC Canada Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal QC Canada Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan Research Fellow Japan Society for the Promotion of Science Tokyo Japan Department of Psychiatry and Behavioral Sciences University of California San Francisco San Francisco CA United States Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA United States Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA United States Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA United States Genomes for Life-GCAT Lab CORE Program Germans Trias i Pujol Research Institute (IGTP) Badalona Spain Grup de REcerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) Barcelona Spain Sano Genetics Limited London United Kingdom Unidad de Biología Molecular y Medicina Genómica Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City NY United States Broad Institute Cambridge MA United States Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA United States Department of Mathematics and Statistics University of Helsinki Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Institute of Human Genetics University of Bonn School of Medicine and University Hospital Bonn Bonn Germany MRC Integrat

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4’s role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID. © The Author(s) 2025.

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An application program of fingerprint detection using wavelet transform for authentication 3

An application program of fingerprint detection using wavele...

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3rd Management and Innovation Technology International Conference, MITiCON 2016

作者： Kwaochai, Aunchisa Pongyupinpanich, Surapong Areekul, Pratya San-Um, Wimol Intelligent Electronic System Research Laboratory Faculty of Engineering Thai-Nichi Institute of Technology Pattanakarn 37 Saunlaung Bangkok10250 Thailand Master Program of Forensic Informatics Ramkhamhang University Bangkapi Bangkok10240 Thailand Department of Mathematics Computer Science Chulachomklao Royal Military Academy Province Nakornnayok26001 Thailand

ISBN: (纸本)9781509041053

This paper presents the application program of fingerprint detection using wavelet transform for authentication. Fingerprints are obtained from the site of crime, old documents and excavated things. This paper proposes a fingerprint recognition technique based on wavelet-based texture pattern recognition method. By collecting incomplete fingerprints of 2 people with 6 images each. The original seven of uncompleted fingerprint images were undetected and only one was detected. After enhancing image quality using wavelet transform method, it was found that those of seven images were completed. The comparison method was a matching technique. This work focuses on the ability of the program and knowledge of image processing by studying algorithms of image processing. In design algorithm process, different technique enhancements were employed as well as the study of different of filters and algorithms based on existing research results from literature. © 2016 IEEE.

关键词： Wavelet transforms

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GWAS meta-analysis of over 29,000 people with epilepsy identifies 26 risk loci and subtype-specific genetic architecture

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Nature genetics 2023年第9期55卷 1471-1482页

作者： Remi Stevelink Dorothee Kasteleijn-Nolst Trenite Bobby P. C. Koeleman Dick Lindhout Anja C. M. Sonsma Ciarán Campbell Gianpiero L. Cavalleri Norman Delanty Hany El-Naggar Austin Lacey Peter Widdess-Walsh Colin P. Doherty Siwei Chen Claire Churchhouse Mark J. Daly Yen-Chen A. Feng Daniel P. Howrigan Mitja I. Kurki Benjamin M. Neale Aarno Palotie Wei Zhou Namrata Gupta Henrike O. Heyne Bassel Abou-Khalil Kevin F. Haas R. S. Taneja Oluyomi M. Adesoji Michael Nothnagel Peter Nürnberg Thomas Sander Zaid Afawi Ilan Blatt Amos D. Korczyn Elisabetta Amadori Ganna Balagura Antonella Riva Marcello Scala Paolo Scudieri Pasquale Striano Federico Zara Michele Iacomino Francesca Madia Alison Anderson Patrick Kwan Terence J. O’Brien Slavé Petrovski K. Meng Tan Marian Todaro Joseph Anderson Danielle M. Andrade Quratulain Zulfiqar Ali Grazia Annesi Pauls Auce Andreja Avbersek Simona Balestrini Vera Braatz Claudia B. Catarino Krishna Chinthapalli Jennifer Jamnadas-Khoda Dalia Kasperavičiūte Costin Leu Josemir W. Sander Sanjay M. Sisodiya Sara Zagaglia Melanie Bahlo Karen L. Oliver Mark D. Baker Beata Fonferko-Shadrach William O. Pickrell Carmen Barba Claudia Bianchini Viola Doccini Renzo Guerrini Davide Mei Martino Montomoli Elena Parrini Annalisa Vetro Karen Barboza Fabrice Bartolomei Thomas Bast Bernhard J. Steinhoff Larry Baum Stacey S. Cherny Pak Sham Tobias Baumgartner Christian E. Elger Kerstin Hallmann Wolfram S. Kunz Rainer Surges Randi von Wrede Gábor Zsurka Betül Baykan Nerses Bebek Yeşim Kesim Albert J. Becker Susanne Schoch Felicitas Becker Caitlin A. Bennett Samuel F. Berkovic Stephanie L. Leech Brigid M. Regan Ingrid E. Scheffer Bianca Berghuis Ahmad Beydoun Wassim Nasreddine Francesca Bisulli Lidia Di Vito Lorenzo Ferri Tania Giangregorio Laura Licchetta Raffaella Minardi Barbara Mostacci Carlotta Stipa Paolo Tinuper Lorenzo Muccioli Federica Pondrelli Dheeraj R. Bobbili Emadeldin Hassanin Roland Krause Zied Landoulsi Patrick May Ingo Borggraefe Christian Bosselmann Christian Hengsbach Josua Kegele Stephen Lauxmann Department of Genetics University Medical Center Utrecht Utrecht The Netherlands Stichting Epilepsie Instellingen Nederland (SEIN) Heemstede The Netherlands School of Pharmacy and Biomolecular Sciences The Royal College of Surgeons in Ireland Dublin Ireland The FutureNeuro Research Centre Dublin Ireland Department of Neurology Beaumont Hospital Dublin Ireland Department of Neurology St. James’s Hospital Dublin Ireland Analytic and Translational Genetics Unit Department of Medicine Massachusetts General Hospital and Harvard Medical School Boston MA USA Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and M.I.T Cambridge MA USA Institute for Molecular Medicine Finland (FIMM) University of Helsinki Helsinki Finland Psychiatric & Neurodevelopmental Genetics Unit Department of Psychiatry Massachusetts General Hospital and Harvard Medical School Boston MA USA Division of Biostatistics Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei Taiwan Hasso Plattner Institute Digital Health Center University of Potsdam Potsdam Germany Hasso Plattner Institute Mount Sinai School of Medicine New York City NY USA Department of Neurology Vanderbilt University Medical Center Nashville TN USA Cologne Center for Genomics (CCG) University of Cologne Faculty of Medicine and University Hospital Cologne Cologne Germany University Hospital Cologne Cologne Germany Department of Neurology Charité Universitaetsmedizin Berlin Campus Virchow-Clinic Berlin Germany Tel-Aviv University Sackler Faculty of Medicine Ramat Aviv Israel Department of Neurology Sheba Medical Center Ramat Gan Israel Department of Neurosciences Rehabilitation Ophthalmology Genetics Maternal and Child Health University of Genova Genova Italy IRCCS Istituto Giannina Gaslini Genova Italy Department of Medicine University of Melbour

Epilepsy is a highly heritable disorder affecting over 50 million people worldwide, of which about one-third are resistant to current treatments. Here we report a multi-ancestry genome-wide association study including 29,944 cases, stratified into three broad categories and seven subtypes of epilepsy, and 52,538 controls. We identify 26 genome-wide significant loci, 19 of which are specific to genetic generalized epilepsy (GGE). We implicate 29 likely causal genes underlying these 26 loci. SNP-based heritability analyses show that common variants explain between 39.6% and 90% of genetic risk for GGE and its subtypes. Subtype analysis revealed markedly different genetic architectures between focal and generalized epilepsies. Gene-set analyses of GGE signals implicate synaptic processes in both excitatory and inhibitory neurons in the brain. Prioritized candidate genes overlap with monogenic epilepsy genes and with targets of current antiseizure medications. Finally, we leverage our results to identify alternate drugs with predicted efficacy if repurposed for epilepsy treatment.

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Dye Sensitized Solar Cells (DSSC) Performance Reviewed from the Composition of Titanium Dioxide (TiO2)/Zinc Oxide (ZnO)

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IOP Conference Series: Materials Science and Engineering 2018年第1期288卷

作者： H Aliah B Bernando F Puspitasari A Setiawan P Pitriana B W Nuryadin M A Ramdhani Physics Department UIN Sunan Gunung Djati Jl. A.H Nasution 105 Bandung Indonesia Faculty of Mathematics and Natural Science Universitas Pendidikan Indonesia Jl. Dr. Setiabudhi 229 Bandung Indonesia Physics Education Program UIN Sunan Gunung Djati Jl. A.H Nasution 105 Bandung Indonesia Informatics Department UIN Sunan Gunung Djati Jl. A.H Nasution 105 Bandung Indonesia

This research aims to examine the influence of the composition of TiO2 and ZnO as the working electrode on the efficiency of DSSC. The working electrode is prepared by depositing TiO2 and ZnO pastes on top of the FTO glass using the doctor blade method. The samples were then heated in an oven at a temperature of 250 ° C for 4 hours. In this study, three TiO2 / ZnO compositions were prepared and assembled into DSSC components with red spinach dye. SEM image shows that the composition of TiO2 / ZnO (0:2) produces the best surface morphology that is indicated by the number and aggregate uniform pores. This is consistent with the results of testing the electrical properties of the sample. The solar cell with the working electrode composed of TiO2 / ZnO (0: 2) yields an efficiency of 0.0515%, higher than the composition (2: 0) and (1: 1) which respectively yields 0.0044% and 0.0015%.

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