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Transcript expression-aware annotation improves rare variant interpretation (vol 581, pg 452, 2020)

NATURE 2021年第7846期590卷 E54-E54页

作者： Cummings, Beryl B. Karczewski, Konrad J. Kosmicki, Jack A. Seaby, Eleanor G. Watts, Nicholas A. Singer-Berk, Moriel Mudge, Jonathan M. Karjalainen, Juha Satterstrom, F. Kyle O'Donnell-Luria, Anne H. Poterba, Timothy Seed, Cotton Solomonson, Matthew Alfoldi, Jessica Daly, Mark J. MacArthur, Daniel G. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Program in Biological and Biomedical Sciences Harvard Medical School Boston MA USA Program in Bioinformatics and Integrative Genomics Harvard Medical School Boston MA USA Genomic Informatics Group University Hospital Southampton Southampton UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service and Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Department of Medicine Harvard Medical School Boston MA USA Cardiac Arrhythmia Service Massachusetts General Hospital Boston MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine FIMM University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University of Helsinki Helsinki Finland Department of Genetics Harvard Medical School Boston MA USA Data Sciences Platform Broad Institute of MIT and Harvard Cambridge MA USA Genomics Platform Broad Institute of MIT and Harvard Cambridge MA USA Wellcome Sanger Institute Hinxton Cambridgeshire UK Unidad de Investigaci

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Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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Nature genetics 2023年第6期55卷 1080页

作者： Bernardo Rodriguez-Martin Eva G Alvarez Adrian Baez-Ortega Jorge Zamora Fran Supek Jonas Demeulemeester Martin Santamarina Young Seok Ju Javier Temes Daniel Garcia-Souto Harald Detering Yilong Li Jorge Rodriguez-Castro Ana Dueso-Barroso Alicia L Bruzos Stefan C Dentro Miguel G Blanco Gianmarco Contino Daniel Ardeljan Marta Tojo Nicola D Roberts Sonia Zumalave Paul A Edwards Joachim Weischenfeldt Montserrat Puiggròs Zechen Chong Ken Chen Eunjung Alice Lee Jeremiah A Wala Keiran M Raine Adam Butler Sebastian M Waszak Fabio C P Navarro Steven E Schumacher Jean Monlong Francesco Maura Niccolo Bolli Guillaume Bourque Mark Gerstein Peter J Park David C Wedge Rameen Beroukhim David Torrents Jan O Korbel Iñigo Martincorena Rebecca C Fitzgerald Peter Van Loo Haig H Kazazian Kathleen H Burns Peter J Campbell Jose M C Tubio Department of Zoology Genetics and Physical Anthropology Universidade de Santiago de Compostela Santiago de Compostela Spain. Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain. Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Transmissible Cancer Group Department of Veterinary Medicine University of Cambridge Cambridge UK. The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain. Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK. Genome Data Science Institute for Research in Biomedicine (IRB Barcelona) The Barcelona Institute of Science and Technology (BIST) Barcelona Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. The Francis Crick Institute London UK. Department of Human Genetics University of Leuven Leuven Belgium. Genomes and Disease Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon South Korea. Cancer Ageing and Somatic Mutation Programme Wellcome Sanger Institute Cambridge UK. Department of Biochemistry Genetics and Immunology University of Vigo Vigo Spain. Galicia Sur Health Research Institute Vigo Spain. Faculty of Science and Technology University of Vic-Central University of Catalonia (UVic-UCC) Vic Spain. Barcelona Supercomputing Center (BSC) Barcelona Spain. Experimental Cancer Genetics Wellcome Sanger Institute Cambridge UK. Oxford Big Data Institute University of Oxford Oxford UK. DNA Repair and Genome Integrity Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Department of Biochemistry and Molecular Biology Universidade de Santiago de Compostela Santiago de Compostela Spain. Medical R

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Robot audition: Its rise and perspectives 40

Robot audition: Its rise and perspectives

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40th IEEE International Conference on Acoustics, Speech, and Signal Processing, ICASSP 2015

作者： Okuno, Hiroshi G. Nakadai, Kazuhiro Graduate Program for Embodiment Informatics Waseda University Japan Honda Research Institute Japan Co. Ltd. Japan

ISBN: (纸本)9781467369978

The ability of robots to listen to several things at once with their own 'ears', that is, robot audition, is an important factor in improving interaction and symbiosis between humans and robots. The critical issue in robot audition is real-time processing and robustness against noisy environments with high flexibility to support various kinds of robots and hardware configurations. This paper first overviews activities and issues related to robot audition. Then, it presents the 'HARK' robot audition software, which provides three primary functions for robot audition, sound source localization, sound source separation, and separated sound recognition, and then reports their performance. Finally, it discusses future directions in new promising areas as well as robotics. © 2015 IEEE.

关键词： Active audition Ego-noise cancellation Microphone array Robot Audition

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Psychometric properties of the Alcohol Use Disorders Identification Test (AUDIT) across cross-cultural subgroups, genders, and sexual orientations: Findings from the International Sex Survey (ISS)

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Comprehensive Psychiatry 2023年 127卷 152427页

作者： Horváth, Zsolt Nagy, Léna Koós, Mónika Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Briken, Peer Burkauskas, Julius Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita Fernandez, David P. Fujiwara, Hironobu Fernandez, Elaine F. Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha C. Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lin, Chung-Ying Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Quintero Garzola, Gabriel C. Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Tsai, Meng-Che Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Connecticut Mental Health Center New Haven CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Institute for Sex Research Sexual Medicine and Forensic Psychiatry University Medical Centre Hamburg-Eppendorf Hamburg Germany Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Palanga Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceutical and Biological Sciences University of Hertfordshire United Kingdom Department of Psychocology and Cognitive Science University of Trento Italy Department of Psychology and Neuroscience Auckland University of Technology Auc

Introduction: Despite being a widely used screening questionnaire, there is no consensus on the most appropriate measurement model for the Alcohol Use Disorders Identification Test (AUDIT). Furthermore, there have been limited studies on its measurement invariance across cross-cultural subgroups, genders, and sexual orientations. Aims: The present study aimed to examine the fit of different measurement models for the AUDIT and its measurement invariance across a wide range of subgroups by country, language, gender, and sexual orientation. Methods: Responses concerning past-year alcohol use from the participants of the cross-sectional International Sex Survey were considered (N = 62,943;M_age: 32.73;SD = 12.59). Confirmatory factor analysis, as well as measurement invariance tests were performed for 21 countries, 14 languages, three genders, and four sexual-orientation subgroups that met the minimum sample size requirement for inclusion in these analyses. Results: A two-factor model with factors describing ‘alcohol use’ (items 1–3) and ‘alcohol problems’ (items 4–10) showed the best model fit across countries, languages, genders, and sexual orientations. For the former two, scalar and latent mean levels of invariance were reached considering different criteria. For gender and sexual orientation, a latent mean level of invariance was reached. Conclusions: In line with the two-factor model, the calculation of separate alcohol-use and alcohol-problem scores is recommended when using the AUDIT. The high levels of measurement invariance achieved for the AUDIT support its use in cross-cultural research, capable also of meaningful comparisons among genders and sexual orientations. © 2023

关键词： Addictive behaviors Alcohol Use Disorders Identification Test (AUDIT) Cross-cultural comparison Gender LGBTQ Measurement invariance Sexual orientation

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Application of Interpolation Image by using Bi-Cubic Algorithm

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Journal of Physics: Conference Series 2018年第1期1114卷

作者： Dahlan Abdullah F Fajriana M Maryana Lidya Rosnita Andysah Putera Utama Siahaan Robbi Rahim P Harliana H Harmayani Zainuddin Ginting Cut Ita Erliana Defi Irwansyah Z Zulmiardi Muammar Khaddafi Feby Milanie Henry Aspan Ismul Huda Kundharu Saddhono Indrya Mulyaningsih Roy Marthen Moonti Parwito Hardianto Djanggih Ainna Amalia Edy Winarno Wiwien Hadikurniawati Department of Informatics Universitas Malikussaleh Aceh Indonesia School of Computer and Communication Engineering Universiti Malaysia Perlis Malaysia Department of Informatics Engineering Sekolah Tinggi Teknik Harapan Medan Indonesia Department of Informatics AMIK Intel Com Global Indo Indonesia Department of Chemical Engineering Universitas Malikussaleh Aceh Indonesia Department of Industrial Engineering Universitas Malikussaleh Aceh Indonesia Department of Mechanical Engineering Universitas Malikussaleh Aceh Indonesia Department of Accounting Universitas Malikussaleh Aceh Indonesia Universitas Pembangunan Panca Budi Medan Indonesia Universitas Syiah Kuala Aceh Indonesia Graduate Program Universitas Sebelas Maret Surakarta Indonesia Indonesian Language Teaching Department Institut Agama Islam Negeri Syekh Nurjati Cirebon Indonesia Department of Law Universitas Gorontalo Gorontalo Indonesia Department of Agrotechnology Universitas Ratu Samban Bengkulu Indonesia Department of Law Universitas Tompotika Luwuk Banggai Luwuk Indonesia Islamic Institut of Miftahul Ula Kertosono Nganjuk East Java Indonesia Faculty of Information Technology Universitas Stikubank Semarang Indonesia

Image magnification is one of the branches in digital image processing that is often required in various applications such as in the field of medicine, multimedia, and in satellite imagery. As technology grows, more and more methods are used for image enlargement. In this study, the image enlargement process performs by using Bi-Cubic spline interpolation method, and the result of image try to compare between the original one and picture after enlargement.

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Optimism predicts sustained vigorous physical activity in postmenopausal women

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Preventive Medicine Reports 2017年 8卷 286-293页

作者： Progovac, Ana M. Donohue, Julie M. Matthews, Karen A. Chang, Chung-Chou H. Habermann, Elizabeth B. Kuller, Lewis H. Saquib, Juliann LaMonte, Michael J. Salmoirago-Blotcher, Elena Zaslavsky, Oleg Tindle, Hilary A. Health Equity Research Lab Department of Psychiatry Cambridge Health Alliance Cambridge MA United States Department of Psychiatry Harvard Medical School Boston MA United States Department of Health Policy & Management University of Pittsburgh Graduate School of Public Health Pittsburgh PA United States Department of Psychiatry University of Pittsburgh School of Medicine Pittsburgh PA United States Department of Biostatistics University of Pittsburgh Pittsburgh PA United States Department of Medicine University of Pittsburgh School of Medicine Pittsburgh PA United States Mayo Clinic Robert D and Patricia E Kern Center for the Science of Health Care Delivery Surgical Outcomes Program Rochester MN United States Department of Epidemiology University of Pittsburgh Graduate School of Public Health Pittsburgh PA United States Department of Family and Community Medicine College of Medicine Qassim University Saudi Arabia Department of Epidemiology and Environmental Health School of Public Health and Health Professions University at Buffalo Buffalo NY United States Department of Medicine Warren Alpert School of Medicine Brown University Providence RI United States Department of Epidemiology Brown University School of Public Health Providence RI United States Centers for Behavioral and Preventive Medicine The Miriam Hospital Providence RI United States Department of Biobehavioral Nursing and Health Informatics University of Washington School of Nursing Seattle WA United States Department of Medicine Vanderbilt University Medical Center Nashville TN United States

Optimism and cynical hostility are associated with health behaviors and health outcomes, including morbidity and mortality. This analysis assesses their association with longitudinal vigorous physical activity (PA) in postmenopausal women of the Women's Health Initiative (WHI). Subjects include 73,485 women nationwide without history of cancer or cardiovascular disease (CVD), and no missing baseline optimism, cynical hostility, or PA data. The Life Orientation Test-Revised Scale measured optimism. A Cook Medley questionnaire subscale measured cynical hostility. Scale scores were divided into quartiles. Vigorous PA three times or more per week was assessed via self-report at study baseline (1994–1998) and through follow-up year 6. Descriptive analysis mapped lifetime trajectories of vigorous PA (recalled at ages 18, 25, 50;prospectively assessed at baseline, and 3 and 6 years later). Hierarchical generalized linear mixed models examined the prospective association between optimism, cynical hostility, and vigorous PA over 6 years. Models adjusted for baseline sociodemographic variables, psychosocial characteristics, and health conditions and behaviors. Vigorous PA rates were highest for most optimistic women, but fell for all women by approximately 60% between age 50 and study baseline. In adjusted models from baseline through year 6, most vs. least optimistic women were 15% more likely to exercise vigorously (p < 0.001). Cynical hostility was not associated with lower odds of longitudinal vigorous PA after adjustment. Results did not differ by race/ethnicity or socioeconomic status. Higher optimism is associated with maintaining vigorous PA over time in post-menopausal women, and may protect women's health over the lifespan. © 2017 The Authors

关键词： Aging Cynical hostility Optimism Physical activity women's health

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Fast quantum algorithm for solving multivariate quadratic equations

arXiv

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arXiv 2017年

作者： Faugère, Jean-Charles Horan, Kelsey Kahrobaei, Delaram Kaplan, Marc Kashefi, Elham Perret, Ludovic UPMC Univ Paris 06 UMR 7606 LIP6 ParisF-75005 France CNRS UMR 7606 LIP6 ParisF-75005 France INRIA Paris Center France Program in Computer Science Graduate Center City University of New York 365 5th Ave New YorkNY10016 United States New York University Tandon School of Engineering BrooklynNY11201 United States School of Informatics University of Edinburgh 10 Crichton Street EdinburghEH8 9AB United Kingdom

In August 2015 the cryptographic world was shaken by a sudden and surprising announcement by the US National Security Agency (NSA) concerning plans to transition to post-quantum algorithms. Since this announcement post-quantum cryptography has become a topic of primary interest for several standardization bodies. The transition from the currently deployed public-key algorithms to post-quantum algorithms has been found to be challenging in many aspects. In particular the problem of evaluating the quantum-bit security of such post-quantum cryptosystems remains vastly open. Of course this question is of primarily concern in the process of standardizing the post-quantum cryptosystems. In this paper we consider the quantum security of the problem of solving a system of m Boolean multivariate quadratic equations in n variables (MQ2);a central problem in postquantum cryptography. When n = m, under a natural algebraic assumption, we present a Las-Vegas quantum algorithm solving MQ2that requires the evaluation of, on average, O(20.462n) quantum gates. To our knowledge this is the fastest algorithm for solving MQ2. Copyright © 2017, The Authors. All rights reserved.

关键词： Quantum cryptography

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Selection of turning-on fluorogenic probe as protein-specific detector obtained via the 10BASEd-T

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AIP Conference Proceedings 2017年第1期1807卷

作者： Shuta Uematsu Taiki Midorikawa Yuji Ito Masumi Taki 1Department of Engineering Science Bioscience and Technology Program The Graduate School of Informatics and Engineering The University of Electro-Communications (UEC) 1-5-1 Chofugaoka Chofu Tokyo 182-8282 Japan 2Department of Chemistry and Bioscience Graduate School of Science and Engineering Kagoshima University 1- 21-35 Korimoto Kagoshima Kagoshima 890-0065 Japan

In order to obtain a molecular probe for specific protein detection, we have synthesized fluorogenic probe library of vast diversity on bacteriophage T7 via the gp10 based-thioetherification (10BASEd−T). A remarkable turning- on probe which is excitable by widely applicable visible light was selected from the library.

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Initial BIBFRAME 2.0 Modeling for the Library Information Spotlight “Opera Planet”

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Journal of Library Metadata 2016年第3-4期16卷 202-227页

作者： Xu, Amanda Singh, Abhishek Ramamurthy, Anusha Xu, Changhui Abdelraouf, Mostafa M. Ding, Ying University of Iowa Libraries Iowa City IA United States School of Informatics and Computing Indiana University Bloomington IN United States Computer Science University of Iowa Iowa City IA United States Interdisciplinary Graduate Program in Informatics University of Iowa Iowa City IA United States

The library linked data environment promises to meet libraries' needs for agility in content delivery and user engagement on the Web. This project chose BIBFRAME 2.0 to demonstrate the purpose by covering the initial BIBFRAME 2.0 modeling and conversion of the sample bibliographic data in Opera Planet, a collection of opera librettos, scores, videos, sound recordings, streaming media, and so forth. The project also developed a proof-of-concept demo site for linked library data application for content enhancement and visualization using various tools, particularly the MARC to BIBFRAME Transformation Service, RDF Translator, AngularJS 2.0, and external open linked data. © 2016, Published with license by Taylor & Francis.

关键词： angularjs2 BIBFRAME 2.0 model and vocabulary linked open data MARC21 metadata conversion visualization

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A charge-redistribution based controller for keeping charge balance in neural stimulation 58

A charge-redistribution based controller for keeping charge ...

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58th IEEE International Midwest Symposium on Circuits and Systems, MWSCAS 2015

作者： Teixeira, Lucas Rodrigues, Cesar Prior, Cesar Graduate Program in Informatics Federal University of Santa Maria Brazil Dept.of Electronics and Computing - CT Federal University of Santa Maria Brazil

ISBN: (纸本)9781467365574

In this article, we present a circuit solution for sensing and controlling functional electrical stimulation (FES) currents. The objective is to keep both charge balance and residual electrode voltage under a safe limit throughout stimulation. In the proposed circuit, the stimulation current is set through an ultra-low-power charge-redistribution digital-to-analog converter (CR-DAC). Each stimulation pulse is copied by high-ratio current mirror into switched capacitors which integrate the residual direct current (DC) resulting from FES imbalances. As residual electrode voltage may buildup even for perfectly balanced current pulses, alternated cathodic-first and anodic-first stimulation is adopted to complement the charge-balancing mechanism. Simulation results suggest that the circuit is able to keep both residual charge and electrode voltage under safe limits, smaller than 0.05% and 64 mV respectively. © 2015 IEEE.

关键词： Low power electronics

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