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38th International Cosmic Ray Conference, ICRC 2023

作者： Abe, Shotaro Berti, Alessio Di Pierro, Federico López-Coto, Rubén Moralejo, Abelardo Ohtani, Yoshiki Sitarek, Julian Strzys, Marcel Suda, Yusuke Vovk, Ievgen Abe, H. Abe, K. Abe, S. Abhir, J. Acciari, V.A. Aguasca-Cabot, A. Agudo, I. Alvarez Crespo, N. Aniello, T. Ansoldi, S. Antonelli, L.A. Aramo, C. Arbet-Engels, A. Cornelia, A. Artero, M. Asano, K. Aubert, P. Baack, D. Babić, A. Baktash, A. Bamba, A. Baquero Larriva, A. Baroncelli, L. Barres de Almeida, U. Barrio, J.A. Batkovic, I. Baxter, J. Becerra González, J. Bednarek, W. Bernardini, E. Bernardos, M.I. Bernete Medrano, J. Berti, A. Besenrieder, J. Bhattacharjee, P. Biederbeck, N. Bigongiari, C. Biland, A. Bissaldi, E. Blanch, O. Bonnoli, G. Bordas, P. Bošnjak, Ž. Bulgarelli, A. Burelli, I. Burmistrov, L. Buscemi, M. Busetto, G. Campoy-Ordaz, A. Cardillo, M. Caroff, S. Carosi, A. Carosi, R. Carrasco, M.S. Carretero-Castrillo, M. Cassol, F. Castro-Tirado, A.J. Cauz, D. Cerasole, D. Ceribella, G. Chai, Y. Cheng, K. Chiavassa, A. Chikawa, M. Chilingarian, A. Chytka, L. Cifuentes, A. Cikota, S. Colombo, E. Contreras, J.L. Cortina, J. Costantini, H. Covino, S. D’Amico, G. Dalchenko, M. D’Elia, V. Da Vela, P. Dazzi, F. De Angelis, A. de Bony de Lavergne, M. De Lotto, B. De Lucia, M. de Menezes, R. Del Peral, L. Deleglise, G. Delfino, M. Delgado, C. Delgado Mengual, J. della Volpe, D. Dellaiera, M. Del Popolo, A. Depaoli, D. Di Piano, A. Di Pierro, F. Di Pilato, A. Di Tria, R. Di Venere, L. Díaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsässer, D. Emery, G. Escudero, J. Fallah Ramazani, V. Fariña, L. Fattorini, A. Ferrara, G. Ferrarotto, F. Fiasson, A. Foffano, L. Font, L. Freixas Coromina, L. Fröse, S. Fukami, S. Fukazawa, Y. Garcia, E. Garcia López, R. Garczarczyk, M. Gasbarra, C. Gasparrini, D. Gasparyan, S. Gaug, M. Geyer, D. Giesbrecht Paiva, J. Giglietto, N. Giordano, F. Gliwny, P. Godinovic, N. Grau, R. Green, J. Green, D. Gunji, S. Günther, P. Hackfeld, J. Hadasch, D. Hahn, A. Institute for Cosmic Ray Research Kashiwa-no-ha 5-1-5 Kashiwa-shi Chiba Japan Max-Planck-Institut für Physik Föhringer Ring 6 München80805 Germany INFN Sezione di Torino Via P. Giuria 1 Torino10125 Italy Instituto de Astrofísica de Andalucía-CSIC Glorieta de la Astronomía s/n Granada18008 Spain The Barcelona Institute of Science and Technology Campus UAB Bellaterra Barcelona08193 Spain Faculty of Physics and Applied Informatics University of Lodz ul. Pomorska 149-153 Lodz90-236 Poland Physics Program Graduate School of Advanced Science and Engineering Hiroshima University Hiroshima739-8526 Japan Institute for Cosmic Ray Research University of Tokyo Japan Department of Physics Tokai University Japan ETH Zürich Switzerland Instituto de Astrofísica de Canarias Departamento de Astrofísica Universidad de La Laguna Spain Departament de Física Quàntica i Astrofísica Institut de Ciències del Cosmos Universitat de Barcelona IEEC-UB Spain EMFTEL department IPARCOS Universidad Complutense de Madrid Spain Italy INFN Sezione di Trieste Università degli Studi di Udine Italy Italy INAF Osservatorio Astronomico di Roma Italy INFN Sezione di Napoli Italy INFN Sezione di Padova Università degli Studi di Padova Italy LAPP Univ. Grenoble Alpes Univ. Savoie Mont Blanc CNRS-IN2P3 Annecy France Department of Physics TU Dortmund University Germany Croatia Universität Hamburg Institut für Experimentalphysik Germany Graduate School of Science University of Tokyo Japan Universidad del Azuay Ecuador INAF Osservatorio di Astrofisica e Scienza dello spazio di Bologna Italy Centro Brasileiro de Pesquisas Físicas Brazil CIEMAT Spain INFN Sezione di Bari Politecnico di Bari Italy INAF Osservatorio Astronomico di Brera Italy University of Geneva Département de physique nucléaire et corpusculaire Switzerland INFN Sezione di Catania Italy Departament de Física CERES-IEEC Universitat Autónoma de Barcelona Spain Italy Università di Pisa INFN Pisa Italy Aix Mars

MAGIC is a system of two Imaging Atmospheric Cherenkov Telescopes (IACTs), designed to detect very-high-energy gamma rays, and is operating in stereoscopic mode since 2009 at the Observatorio del Roque de Los Muchachos in La Palma, Spain. In 2018, the prototype IACT of the Large-Sized Telescope (LST-1) for the Cherenkov Telescope Array, a next-generation ground-based gamma-ray observatory, was inaugurated at the same site, at a distance of approximately 100 meters from the MAGIC telescopes. Using joint observations between MAGIC and LST-1, we developed a dedicated analysis pipeline and established the threefold telescope system via software, achieving the highest sensitivity in the northern hemisphere. Based on this enhanced performance, MAGIC and LST-1 have been jointly and regularly observing the Galactic Center, a region of paramount importance and complexity for IACTs. In particular, the gamma-ray emission from the dynamical center of the Milky Way is under debate. Although previous measurements suggested that a supermassive black hole Sagittarius A* plays a primary role, its radiation mechanism remains unclear, mainly due to limited angular resolution and sensitivity. The enhanced sensitivity in our novel approach is thus expected to provide new insights into the question. We here present the current status of the data analysis for the Galactic Center joint MAGIC and LST-1 observations. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Cosmology

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Development of a Vacuum Suction Cup by Applying Magnetorheological Elastomers for Objects with Flat Surfaces

Development of a Vacuum Suction Cup by Applying Magnetorheol...

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IEEE/ASME (AIM) International Conference on Advanced Intelligent Mechatronics

作者： Peizhi Zhang Mitsuhiro Kamezaki Kenshiro Otsuki Zhuoyi He Hiroyuki Sakamoto Shigeki Sugano Graduate Program for Embodiment Informatics for Leading Graduate Schools Waseda University 3F Shinjuku Lambdax Building 2-4-12 Okubo Shinjuku-ku Tokyo Japan Research Institute for Science and Engineering (RISE) Waseda University 17 Kikui-cho Shinjuku-ku Tokyo Japan School of Creative Science and Engineering Waseda University 3-4-1 Okubo Shinjuku-ku Tokyo Japan Nippon Paint Holdings Co. Ltd. 4-1-15 Minami-shinagawa Shinagawa-ku Tokyo Japan

ISBN: (数字)9781728167947

ISBN: (纸本)9781728167954

In this paper, we present a suction cup by applying magnetorheological elastomers (MREs) that can be used for the wall climbing robot and picking application. MRE is a smart material in which the ferromagnetic particles are dispersed in the elastomer. In conventional research, MREs are often used as a vibration absorber, since the physical or mechanical properties can be altered upon the application of a magnetic field. In this paper, we focus on the expansion of the use of MRE material. When the magnetic field is added, the MRE will be attracted to the magnetic generator due to the ferromagnetic particles inside. The basic mathematical model between magnetic force and elasticity is discussed by us, which supports the working principle of building MRE suction cup. The MRE suction cup contains a permanent magnetic field generator unit and a MRE membrane unit. A servo motor is used to control the ON/OFF of the magnetic generator, so that the MRE membrane can be activated and deactivated. In this prototype, we focus on picking objects with flat surfaces as the first attempt. The proposed suction cup can achieve appropriate suction force, low noise, energy-saving. In this paper, the operation method of MREs, the design of the suction cup, and the evaluation of the prototype are conducted.

关键词： Soft magnetic materials Force Generators Magnetoelasticity Magnetic cores Magnetic forces

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Observation of Active Galactic Nuclei with the Large-Sized Telescope prototype of the Cherenkov Telescope Array 38

Observation of Active Galactic Nuclei with the Large-Sized T...

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38th International Cosmic Ray Conference, ICRC 2023

作者： Takeishi, R. Álvarez Crespo, N. Arbet-Engels, A. Baquero Larriva, A. Baxter, J. Biederbeck, N. Caroff, S. Di Marco, G. Fallah Ramazani, V. Green, D. Heckmann, L. Láinez, M. Nickel, L. Nievas Rosillo, M. Pons, E. Priyadarshi, C. Sanchez, D.A. Vázquez Acosta, M. Abe, K. Abe, S. Aguasca-Cabot, A. Agudo, I. Antonelli, L.A. Aramo, C. Arcaro, C. Artero, M. Asano, K. Aubert, P. Baktash, A. Bamba, A. Baquero Larriva, A. Baroncelli, L. Barres de Almeida, U. Barrio, J.A. Batkovic, I. Becerra González, J. Bernardini, E. Bernardos, M.I. Bernete Medrano, J. Berti, A. Bhattacharjee, P. Bigongiari, C. Bissaldi, E. Blanch, O. Bonnoli, G. Bordas, P. Bulgarelli, A. Burelli, I. Burmistrov, L. Buscemi, M. Cardillo, M. Carosi, A. Carrasco, M.S. Cassol, F. Cauz, D. Cerasole, D. Ceribella, G. Chai, Y. Cheng, K. Chiavassa, A. Chikawa, M. Chytka, L. Cifuentes, A. Contreras, J.L. Cortina, J. Costantini, H. Dalchenko, M. Dazzi, F. De Angelis, A. de Bony de Lavergne, M. De Lotto, B. De Lucia, M. de Menezes, R. Del Peral, L. Deleglise, G. Delgado, C. Delgado Mengual, J. della Volpe, D. Dellaiera, M. Di Piano, A. Di Pierro, F. Di Pilato, A. Di Tria, R. Di Venere, L. Díaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Eisenberger, L. Elsässer, D. Emery, G. Escudero, J. Ferrara, G. Ferrarotto, F. Fiasson, A. Foffano, L. Freixas Coromina, L. Fröse, S. Fukami, S. Fukazawa, Y. Garcia, E. Garcia López, R. Gasbarra, C. Gasparrini, D. Geyer, D. Giesbrecht Paiva, J. Giglietto, N. Giordano, F. Gliwny, P. Godinovic, N. Grau, R. Gunji, S. Günther, P. Hackfeld, J. Hadasch, D. Hahn, A. Hashiyama, K. Hassan, T. Hayashi, K. Heller, M. HerreraLlorente, J. Hirotani, K. Hoffmann, D. Horns, D. Houles, J. Hrabovsky, M. Hrupec, D. Hui, D. Hütten, M. Iarlori, M. Imazawa, R. Inada, T. Inome, Y. Ioka, K. Iori, M. Ishio, K. Jimenez Martinez, I. Jurysek, J. Kagaya, M. Karas, V. Katagiri, H. Kataoka, J. Kerszberg, D. Kobayashi, Y. Kohri, K. Kong, A. Kubo, H. Kushida, J. Lamanna, G. Lamastra, A. Institute for Cosmic Ray Research University of Tokyo Chiba Kashiwa277-8582 Japan Grupo de Electronica Universidad Complutense de Madrid Av. Complutense s/n Madrid28040 Spain Max-Planck-Institut für Physik Föhringer Ring 6 München80805 Germany IPARCOS-UCM Instituto de Física de Partículas y del Cosmos EMFTEL Department Universidad Complutense de Madrid MadridE-28040 Spain Faculty of Science and Technology Universidad del Azuay Cuenca Ecuador Department of Physics TU Dortmund University Otto-Hahn-Str. 4 Dortmund44227 Germany Univ. Savoie Mont Blanc CNRS Laboratoire d’Annecy de Physique des Particules - IN2P3 Annecy74000 France Instituto de Astrofísica de Canarias Departamento de Astrofísica Universidad de La Laguna Tenerife La Laguna Spain Institut für Theoretische Physik Lehrstuhl IV: Plasma-Astroteilchenphysik Ruhr-Universität Bochum Universitätsstraße 150 Bochum44801 Germany The Barcelona Institute of Science and Technology Campus UAB Bellaterra Barcelona08193 Spain Department of Physics Tokai University Japan Departament de Física Quàntica i Astrofísica Institut de Ciències delCosmos Universitat de Barcelona IEEC-UB Spain Instituto de Astrofísica de Andalucía-CSIC Spain EMFTEL department IPARCOS Universidad Complutense de Madrid Spain INAF - Osservatorio Astronomico di Roma Italy INFN Sezione di Napoli Italy INFN Sezione di Padova Università degli Studi di Padova Italy Universität Hamburg Institut für Experimentalphysik Germany Graduate School of Science University of Tokyo Japan Universidad del Azuay Ecuador INAF - Osservatorio di Astrofisica e Scienza dello spazio di Bologna Italy Centro Brasileiro de Pesquisas Físicas Brazil CIEMAT Spain INFN Sezione di Bari Politecnico di Bari Italy INAF - Osservatorio Astronomico di Brera Italy INFN Sezione di Trieste Università degli Studi di Udine Italy University of Geneva Département de physique nucléaire et corpusculaire Switzerland INFN Sezione di Catania Italy Italy Aix Marseille Uni

Cherenkov Telescope Array (CTA) will be the next generation gamma-ray observatory. It will consist of three different sizes of telescopes, with a collective improvement of about an order of magnitude in sensitivity, compared with the current generation gamma-ray telescopes. LargeSized Telescopes (LSTs) will be the most sensitive at energies from tens of GeV up to a few TeVs, and will be the best suited to observe gamma-ray sources such as Active Galactic Nuclei (AGN). The first Large-Sized Telescope prototype (LST-1), inaugurated in 2018 and currently in commissioning phase, has accumulated more than one thousand hours of data to date. From 2020 to 2022, we have detected various gamma-ray sources, and prominent among them are several well-known AGN, like Mrk 421, Mrk 501, 1ES 1959+650, 1ES 0647+250, PG 1553+113, etc. We report on light curves and energy spectra reconstructed out of these observations down to energies of tens of GeV, which is very close to the energy threshold of LST-1. © Copyright owned by the author(s) under the terms of the Creative Commons.

关键词： Active Galactic Nuclei

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Polygenic risk modeling for prediction of epithelial ovarian cancer risk (vol 30, pg 349, 2021)

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EUROPEAN JOURNAL OF HUMAN GENETICS 2022年第5期30卷 630-631页

作者： Dareng, Eileen O. Tyrer, Jonathan P. Barnes, Daniel R. Jones, Michelle R. Yang, Xin Aben, Katja K. H. Adank, Muriel A. Agata, Simona Andrulis, Irene L. Anton-Culver, Hoda Antonenkova, Natalia N. Aravantinos, Gerasimos Arun, Banu K. Augustinsson, Annelie Balmana, Judith Bandera, Elisa V. Barkardottir, Rosa B. Barrowdale, Daniel Beckmann, Matthias W. Beeghly-Fadiel, Alicia Benitez, Javier Bermisheva, Marina Bernardini, Marcus Q. Bjorge, Line Black, Amanda Bogdanova, Natalia V. Bonanni, Bernardo Borg, Ake Brenton, James D. Budzilowska, Agnieszka Butzow, Ralf Buys, Saundra S. Cai, Hui Caligo, Maria A. Campbell, Ian Cannioto, Rikki Cassingham, Hayley Chang-Claude, Jenny Chanock, Stephen J. Chen, Kexin Chiew, Yoke-Eng Chung, Wendy K. Claes, Kathleen B. M. Colonna, Sarah Cook, Linda S. Couch, Fergus J. Daly, Mary B. Dao, Fanny Davies, Eleanor de la Hoya, Miguel de Putter, Robin Dennis, Joe DePersia, Allison Devilee, Peter Diez, Orland Ding, Yuan Chun Doherty, Jennifer A. Domchek, Susan M. Dork, Thilo du Bois, Andreas Durst, Matthias Eccles, Diana M. Eliassen, Heather A. Engel, Christoph Evans, Gareth D. Fasching, Peter A. Flanagan, James M. Fortner, Renee T. Machackova, Eva Friedman, Eitan Ganz, Patricia A. Garber, Judy Gensini, Francesca Giles, Graham G. Glendon, Gord Godwin, Andrew K. Goodman, Marc T. Greene, Mark H. Gronwald, Jacek Hahnen, Eric Haiman, Christopher A. Hakansson, Niclas Hamann, Ute Hansen, Thomas V. O. Harris, Holly R. Hartman, Mikael Heitz, Florian Hildebrandt, Michelle A. T. Hogdall, Estrid Hogdall, Claus K. Hopper, John L. Huang, Ruea-Yea Huff, Chad Hulick, Peter J. Huntsman, David G. Imyanitov, Evgeny N. Isaacs, Claudine Jakubowska, Anna James, Paul A. Janavicius, Ramunas Jensen, Allan Johannsson, Oskar Th. John, Esther M. Jones, Michael E. Kang, Daehee Karlan, Beth Y. Karnezis, Anthony Kelemen, Linda E. Khusnutdinova, Elza Kiemeney, Lambertus A. Kim, Byoung-Gie Kjaer, Susanne K. Komenaka, Ian Kupryjanczyk, Jolanta Kurian, Allison W. Kwong, Ava Lambrechts, Diether Larson, Melissa C. Lazaro, Conxi L University of Cambridge Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care Cambridge UK University of Cambridge Centre for Cancer Genetic Epidemiology Department of Oncology Cambridge UK Center for Bioinformatics and Functional Genomics Cedars-Sinai Medical Center Los Angeles CA USA Radboud University Medical Center Radboud Institute for Health Sciences Nijmegen The Netherlands Netherlands Comprehensive Cancer Organisation Utrecht The Netherlands The Netherlands Cancer Institute—Antoni van Leeuwenhoek hospital Family Cancer Clinic Amsterdam The Netherlands Veneto Institute of Oncology IOV—IRCCS Immunology and Molecular Oncology Unit Padua Italy Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Fred A. Litwin Center for Cancer Genetics Toronto ON Canada University of Toronto Department of Molecular Genetics Toronto ON Canada University of California Irvine Department of Epidemiology Genetic Epidemiology Research Institute Irvine CA USA N.N. Alexandrov Research Institute of Oncology and Medical Radiology Minsk Belarus ‘Agii Anargiri’ Cancer Hospital Athens Greece University of Texas MD Anderson Cancer Center Department of Breast Medical Oncology Houston TX USA Lund University Department of Cancer Epidemiology Clinical Sciences Lund Sweden Vall d’Hebron Institute of Oncology Hereditary cancer Genetics Group Barcelona Spain University Hospital of Vall d’Hebron Department of Medical Oncology Barcelona Spain Rutgers Cancer Institute of New Jersey Cancer Prevention and Control Program New Brunswick NJ USA Landspitali University Hospital Department of Pathology Reykjavik Iceland University of Iceland BMC (Biomedical Centre) Faculty of Medicine Reykjavik Iceland University Hospital Erlangen Friedrich-Alexander-University Erlangen-Nuremberg Department of Gynecology and Obstetrics Comprehensive Cancer Center ER-EMN Erlangen Germany Vanderbilt University School of Medicine Division of Epidemiology Department

Polygenic risk scores (PRS) for epithelial ovarian cancer (EOC) have the potential to improve risk stratification. Joint estimation of Single Nucleotide Polymorphism (SNP) effects in models could improve predictive performance over standard approaches of PRS construction. Here, we implemented computationally efficient, penalized, logistic regression models (lasso, elastic net, stepwise) to individual level genotype data and a Bayesian framework with continuous shrinkage, “select and shrink for summary statistics” (S4), to summary level data for epithelial non-mucinous ovarian cancer risk prediction. We developed the models in a dataset consisting of 23,564 non-mucinous EOC cases and 40,138 controls participating in the Ovarian Cancer Association Consortium (OCAC) and validated the best models in three populations of different ancestries: prospective data from 198,101 women of European ancestries; 7,669 women of East Asian ancestries; 1,072 women of African ancestries, and in 18,915 BRCA1 and 12,337 BRCA2 pathogenic variant carriers of European ancestries. In the external validation data, the model with the strongest association for non-mucinous EOC risk derived from the OCAC model development data was the S4 model (27,240 SNPs) with odds ratios (OR) of 1.38 (95% CI: 1.28–1.48, AUC: 0.588) per unit standard deviation, in women of European ancestries; 1.14 (95% CI: 1.08–1.19, AUC: 0.538) in women of East Asian ancestries; 1.38 (95% CI: 1.21–1.58, AUC: 0.593) in women of African ancestries; hazard ratios of 1.36 (95% CI: 1.29–1.43, AUC: 0.592) in BRCA1 pathogenic variant carriers and 1.49 (95% CI: 1.35–1.64, AUC: 0.624) in BRCA2 pathogenic variant carriers. Incorporation of the S4 PRS in risk prediction models for ovarian cancer may have clinical utility in ovarian cancer prevention programs.

关键词： Clinical genetics Genetic markers Risk factors Biomedicine general Human Genetics Bioinformatics Gene Expression Cytogenetics

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Speech Enhancement Based on Bayesian Low-Rank and Sparse Decomposition of Multichannel Magnitude Spectrograms

Speech Enhancement Based on Bayesian Low-Rank and Sparse Dec...

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作者： Bando, Yoshiaki Itoyama, Katsutoshi Konyo, Masashi Tadokoro, Satoshi Nakadai, Kazuhiro Yoshii, Kazuyoshi Kawahara, Tatsuya Okuno, Hiroshi G. Graduate School of Informatics Kyoto University Kyoto606-8501 Japan Graduate School of Information Science Tohoku University Sendai980-8579 Japan Tokyo Institute of Technology Saitama351-0114 Japan Honda Research Institute Japan Co. Ltd Wako351-0188 Japan Graduate Program for Enbodiment Informatics Waseda University Tokyo169-0072 Japan

This paper presents a blind multichannel speech enhancement method that can deal with the time-varying layout of microphones and sound sources. Since nonnegative tensor factorization (NTF) separates a multichannelmagnitude (or power) spectrogram into source spectrograms without phase information, it is robust against the time-varying mixing system. This method, however, requires prior information such as the spectral bases (templates) of each source spectrogram in advance. To solve this problem, we develop a Bayesian model called robust NTF (Bayesian RNTF) that decomposes a multichannel magnitude spectrogram into target speech and noise spectrograms based on their sparseness and low rankness. Bayesian RNTF is applied to the challenging task of speech enhancement for a microphone array distributed on a hose-shaped rescue robot. When the robot searches for victims under collapsed buildings, the layout of themicrophones changes over time and some of them often fail to capture target speech. Our method robustly works under such situations, thanks to its characteristic of time-varying mixing system. Experiments using a 3-m hose-shaped rescue robot with eight microphones show that the proposed method outperforms conventional blind methods in enhancement performance by the signal-to-noise ratio of 1.03 dB. © 2017 IEEE.

关键词： Microphones

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GestaltMML: Enhancing Rare Genetic Disease Diagnosis through Multimodal Machine Learning Combining Facial Images and Clinical Texts

arXiv

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arXiv 2023年

作者： Wu, Da Yang, Jingye Liu, Cong Hsieh, Tzung-Chien Marchi, Elaine Blair, Justin Krawitz, Peter Weng, Chunhua Chung, Wendy Lyon, Gholson J. Krantz, Ian D. Kalish, Jennifer M. Wang, Kai Raymond G. Perelman Center for Cellular and Molecular Therapeutics Children's Hospital of Philadelphia PhiladelphiaPA19104 United States Department of Biomedical Informatics Columbia University Irving Medical Center New YorkNY10032 United States Institute for Genomic Statistics and Bioinformatics University Hospital Bonn Rheinische Friedrich-Wilhelms-Universität Bonn Bonn Germany Department of Human Genetics New York State Institute for Basic Research in Developmental Disabilities Staten IslandNY United States Division of Human Genetics Children's Hospital of Philadelphia PhiladelphiaPA19104 United States Department of Pediatrics Boston Children’s Hospital Harvard Medical School BostonMA United States Biology PhD Program The Graduate Center The City University of New York New York United States Department of Genetics Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pediatrics Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA19104 United States

Individuals with suspected rare genetic disorders often undergo multiple clinical evaluations, imaging studies, laboratory tests and genetic tests, to find a possible answer over a prolonged period of time. Addressing this "diagnostic odyssey" thus has substantial clinical, psychosocial, and economic benefits. Many rare genetic diseases have distinctive facial features, which can be used by artificial intelligence algorithms to facilitate clinical diagnosis, in prioritizing candidate diseases to be further examined by lab tests or genetic assays, or in helping the phenotype-driven reinterpretation of genome/exome sequencing data. Existing methods using frontal facial photos were built on conventional Convolutional Neural Networks (CNNs), rely exclusively on facial images, and cannot capture non-facial phenotypic traits and demographic information essential for guiding accurate diagnoses. Here we introduce GestaltMML, a multimodal machine learning (MML) approach solely based on the Transformer architecture. It integrates facial images, demographic information (age, sex, ethnicity), and clinical notes (optionally, a list of Human Phenotype Ontology terms) to improve prediction accuracy. Furthermore, we also evaluated GestaltMML on a diverse range of datasets, including 528 diseases from the GestaltMatcher Database, several in-house datasets of Beckwith-Wiedemann syndrome (BWS, over-growth syndrome with distinct facial features), Sotos syndrome (overgrowth syndrome with overlapping features with BWS), NAA10-related neurodevelopmental syndrome, Cornelia de Lange syndrome (multiple malformation syndrome), and KBG syndrome (multiple malformation syndrome). Our results suggest that GestaltMML effectively incorporates multiple modalities of data, greatly narrowing candidate genetic diagnoses of rare diseases and may facilitate the reinterpretation of genome/exome sequencing data. © 2023, CC BY.

关键词： Diseases

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Camera Calibration of the CTA-LST prototype 37

Camera Calibration of the CTA-LST prototype

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37th International Cosmic Ray Conference, ICRC 2021

作者： Kobayashi, Yukiho Okumura, Akira Cassol, Franca Katagiri, Hideaki Sitarek, Julian Gliwny, Pawel Nozaki, Seiya Nogami, Yuto Abe, H. Aguasca, A. Agudo, I. Antonelli, L.A. Aramo, C. Armstrong, T. Artero, M. Asano, K. Ashkar, H. Aubert, P. Baktash, A. Bamba, A. Baquero Larriva, A. Baroncelli, L. Barres de Almeida, U. Barrio, J.A. Batkovic, I. Becerra Gonzalez, J. Bernardos, M.I. Berti, A. Biederbeck, N. Bigongiari, C. Blanch, O. Bonnoli, G. Bordas, P. Bose, D. Bulgarelli, A. Burelli, I. Buscemi, M. Cardillo, M. Caroff, S. Carosi, A. Cerruti, M. Chai, Y. Cheng, K. Chikawa, M. Chytka, L. Contreras, J.L. Cortina, J. Costantini, H. Dalchenko, M. De Angelis, A. de Bony de Lavergne, M. Deleglise, G. Delgado, C. Delgado Mengual, J. della Volpe, D. Depaoli, D. Di Pierro, F. Di Venere, L. Daaz, C. Dominik, R.M. Dominis Prester, D. Donini, A. Dorner, D. Doro, M. Elsaasser, D. Emery, G. Escudero, J. Fiasson, A. Foffano, L. Fonseca, M.V. Freixas Coromina, L. Fukami, S. Fukazawa, Y. Garcia, E. Garcia Lapez, R. Giglietto, N. Giordano, F. Godinovic, N. Green, D. Grespan, P. Gunji, S. Hackfeld, J. Hadasch, D. Hahn, A. Hassan, T. Hayashi, K. Heckmann, L. Heller, M. Herrera Llorente, J. Hirotani, K. Hoffmann, D. Horns, D. Houles, J. Hrabovsky, M. Hrupec, D. Hui, D. HÃŒtten, M. Inada, T. Inome, Y. Iori, M. Ishio, K. Iwamura, Y. Jacquemont, M. Jimenez Martinez, I. Jouvin, L. Jurysek, J. Kagaya, M. Karas, V. Kataoka, J. Kerszberg, D. Kong, A. Kubo, H. Kushida, J. Lamanna, G. Lamastra, A. Le Flour, T. Longo, F. Lapez-Coto, R. Lapez-Moya, M. Lapez-Oramas, A. Luque-Escamilla, P.L. Majumdar, P. Makariev, M. Mandat, D. Manganaro, M. Mannheim, K. Mariotti, M. Marquez, P. Marsella, G. Marta, J. Martinez, O. MartÃnez, G. MartÃnez, M. Marusevec, P. Mas, A. Maurin, G. Mazin, D. Mestre Guillen, E. Micanovic, S. Miceli, D. Miener, T. Miranda, J.M. Miranda, L.D.M. Mirzoyan, R. Mizuno, T. Molina, E. Montaruli, T. Monteiro, I. Moralejo, A. Morcuende, D. Moretti, E. Morselli, A. Mrakovcic, K. Institute for Cosmic Ray Research The University of Tokyo Chiba Japan Institute for Space-Earth Environmental Research Kobayashi-Maskawa Institute for the Origin of Particles and the Universe Nagoya University Nagoya Japan Aix Marseille Univ CNRS IN2P3 CPPM Marseille France College of Science Ibaraki University Ibaraki Japan Faculty of Physics and Applied Informatics University of Lodz ul. Pomorska 149/153 Lódz90-236 Poland Department of Physics Kyoto University Kyoto606-8502 Japan Institute for Cosmic Ray Research University of Tokyo Japan Departament de Fasica Quantica i Astrofasica Institut de Ciancies del Cosmos Universitat de Barcelona IEEC-UB Spain Instituto de Astrofasica de Andalucaa-CSIC Spain INAF - Osservatorio Astronomico di Roma Italy INFN Sezione di Napoli Italy Aix Marseille Univ CNRS IN2P3 CPPM France The Barcelona Institute of Science and Technology Spain IRFU CEA Universita© Paris-Saclay France LAPP Univ. Grenoble Alpes Univ. Savoie Mont Blanc CNRS-IN2P3 Annecy France Universitaat Hamburg Institut faer Experimentalphysik Germany Graduate School of Science University of Tokyo Japan EMFTEL Department IPARCOS Universidad Complutense de Madrid Spain INAF - Osservatorio di Astrofisica e Scienza dello Spazio di Bologna Italy Centro Brasileiro de Pesquisas Fasicas Brazil INFN Sezione di Padova Universita degli Studi di Padova Italy Instituto de Astrofasica de Canarias Departamento de Astrofasica Universidad de La Laguna Spain Max-Planck-Institut faer Physik Germany Department of Physics TU Dortmund University Germany Saha Institute of Nuclear Physics India INFN Sezione di Trieste Universita degli Studi di Udine Italy INFN Sezione di Catania Italy Italy University of Geneva Da©partement de Physique Nucla©aire et Corpusculaire Switzerland Palacky University Olomouc Faculty of Science Czech Republic CIEMAT Spain Port d'Informacia Cientafica Spain INFN Sezione di Torino Italy Dipartimento di Fisica Universita degli Studi di Tori

The Cherenkov Telescope Array (CTA) is the next-generation gamma-ray observatory that is expected to reach one order of magnitude better sensitivity than that of current telescope arrays. The Large-Sized Telescopes (LSTs) have an essential role in extending the energy range down to 20 GeV. The prototype LST (LST-1) proposed for CTA was built in La Palma, the northern site of CTA, in 2018. LST-1 is currently in its commissioning phase and moving towards scientific observations. The LST-1 camera consists of 1855 photomultiplier tubes (PMTs) which are sensitive to Cherenkov light. PMT signals are recorded as waveforms sampled at 1 GHz rate with Domino Ring Sampler version 4 (DRS4) chips. Fast sampling is essential to achieve a low energy threshold by minimizing the integration of background light from the night sky. Absolute charge calibration can be performed by the so-called F-factor method, which allows calibration constants to be monitored even during observations. A calibration pipeline of the camera readout has been developed as part of the LST analysis chain. The pipeline performs DRS4 pedestal and timing corrections, as well as the extraction and calibration of charge and time of pulses for subsequent higher-level analysis. The performance of each calibration step is examined, and especially charge and time resolution of the camera readout are evaluated and compared to CTA requirements. We report on the current status of the calibration pipeline, including the performance of each step through to signal reconstruction, and the consistency with Monte Carlo simulations. © 2022 Sissa Medialab Srl. All rights reserved.

关键词： Calibration

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Training of Physical Neural Networks

arXiv

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arXiv 2024年

作者： Momeni, Ali Rahmani, Babak Scellier, Benjamin Wright, Logan G. McMahon, Peter L. Wanjura, Clara C. Li, Yuhang Skalli, Anas Berloff, Natalia G. Onodera, Tatsuhiro Oguz, Ilker Morichetti, Francesco del Hougne, Philipp Le Gallo, Manuel Sebastian, Abu Mirhoseini, Azalia Zhang, Cheng Marković, Danijela Brunner, Daniel Moser, Christophe Gigan, Sylvain Marquardt, Florian Ozcan, Aydogan Grollier, Julie Liu, Andrea J. Psaltis, Demetri Alù, Andrea Fleury, Romain Lausanne Switzerland Microsoft Research 198 Cambridge Science Park CambridgeCB4 0AB United Kingdom Rain AI San Francisco United States Department of Applied Physics Yale University CT United States School of Applied and Engineering Physics Cornell University IthacaNY14853 United States Max Planck Institute for the Science of Light Staudtstraße 2 Erlangen91058 Germany Department of Electrical and Computer Engineering University of California Los AngelesCA90095 United States FEMTO-ST Institute Optics Department CNRS University Bourgogne Franche-Comté Besançon25030 Cedex France Department of Applied Mathematics and Theoretical Physics University of Cambridge Cambridge United Kingdom NTT Physics and Informatics Laboratories NTT Research Inc. Sunnyvale United States Lausanne Switzerland Dipartimento di Elettronica Informazione e Bioingegneria Politecnico di Milano Milan Italy Univ Rennes CNRS IETR UMR 6164 RennesF-35000 France IBM Research Europe– Zurich Rüschlikon8803 Switzerland Department of Computer Science Stanford University United States Google DeepMind 1600 Amphitheatre Parkway Mountain ViewCA94043 United States Unité Mixte de Physique CNRS/Thales CNRS Thales Université Paris-Saclay Palaiseau France Laboratoire Kastler Brossel Sorbonne Université École Normale Supérieure Collège de France CNRS UMR 8552 Paris France Laboratoire Albert Fert CNRS Thales UniversitéParis-Saclay Palaiseau91767 France Department of Physics and Astronomy University of Pennsylvania PhiladelphiaPA19104 United States Lausanne Switzerland Photonics Initiative Advanced Science Research Center City University of New York New YorkNY10031 United States Physics Program Graduate Center City University of New York New YorkNY10016 United States

Physical neural networks (PNNs) are a class of neural-like networks that leverage the properties of physical systems to perform computation. While PNNs are so far a niche research area with small-scale laboratory demonstrations, they are arguably one of the most underappreciated important opportunities in modern artificial intelligence (AI). Could we train AI models 1000x larger than current ones? Could we do this and also have them perform inference locally and privately on edge devices, such as smartphones or sensors? research over the past few years has shown that the answer to all these questions is likely "textityes, with enough research": PNNs could one day radically change what is possible and practical for AI systems. To do this will however require rethinking both how AI models work, and how they are trained – primarily by considering the problems through the constraints of the underlying hardware physics. To train PNNs at large scale, many methods including backpropagation-based and backpropagation-free approaches are now being explored. These methods have various trade-offs, and so far no method has been shown to scale to the same scale and performance as the backpropagation algorithm widely used in deep learning today. However, this is rapidly changing, and a diverse ecosystem of training techniques provides clues for how PNNs may one day be utilized to create both more efficient realizations of current-scale AI models, and to enable unprecedented-scale models. Copyright © 2024, The Authors. All rights reserved.

关键词： Deep learning

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Global, regional, and national burden of diabetes from 1990 to 2021, with projections of prevalence to 2050: a systematic analysis for the Global Burden of Disease Study 2021

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The Lancet 2023年第10397期402卷 203-234页

作者： Ong, Kanyin Liane Stafford, Lauryn K. McLaughlin, Susan A. Boyko, Edward J. Vollset, Stein Emil Smith, Amanda E. Dalton, Bronte E. Duprey, Joe Cruz, Jessica A. Hagins, Hailey Lindstedt, Paulina A. Aali, Amirali Abate, Yohannes Habtegiorgis Abate, Melsew Dagne Abbasian, Mohammadreza Abbasi-Kangevari, Zeinab Abbasi-Kangevari, Mohsen ElHafeez, Samar Abd Abd-Rabu, Rami Abdulah, Deldar Morad Abdullah, Abu Yousuf Md Abedi, Vida Abidi, Hassan Aboagye, Richard Gyan Abolhassani, Hassan Abu-Gharbieh, Eman Abu-Zaid, Ahmed Adane, Tigist Demssew Adane, Denberu Eshetie Addo, Isaac Yeboah Adegboye, Oyelola A. Adekanmbi, Victor Adepoju, Abiola Victor Adnani, Qorinah Estiningtyas Sakilah Afolabi, Rotimi Felix Agarwal, Gina Aghdam, Zahra Babaei Agudelo-Botero, Marcela Arriagada, Constanza Elizabeth Aguilera Agyemang-Duah, Williams Ahinkorah, Bright Opoku Ahmad, Danish Ahmad, Rizwan Ahmad, Sajjad Ahmad, Aqeel Ahmadi, Ali Ahmadi, Keivan Ahmed, Ali Ahmed, Luai A. Ahmed, Syed Anees Ajami, Marjan Akinyemi, Rufus Olusola Al Hamad, Hanadi Al Hasan, Syed Mahfuz AL-Ahdal, Tareq Mohammed Ali Alalwan, Tariq A. Al-Aly, Ziyad AlBataineh, Mohammad T. Alcalde-Rabanal, Jacqueline Elizabeth Alemi, Sharifullah Ali, Hassam Alinia, Tahereh Aljunid, Syed Mohamed Almustanyir, Sami Al-Raddadi, Rajaa M. Alvis-Guzman, Nelson Amare, Firehiwot Ameyaw, Edward Kwabena Amiri, Sohrab Amusa, Ganiyu Adeniyi Andrei, Catalina Liliana Anjana, Ranjit Mohan Ansar, Adnan Ansari, Golnoosh Ansari-Moghaddam, Alireza Anyasodor, Anayochukwu Edward Arabloo, Jalal Aravkin, Aleksandr Y. Areda, Demelash Arifin, Hidayat Arkew, Mesay Armocida, Benedetta Arnlov, Johan Artamonov, Anton A. Arulappan, Judie Aruleba, Raphael Taiwo Arumugam, Ashokan Aryan, Zahra Asemu, Mulu Tiruneh Asghari-Jafarabadi, Mohammad Askari, Elaheh Asmelash, Daniel Astell-Burt, Thomas Athar, Mohammad Athari, Seyyed Shamsadin Atout, Maha Moh'd Wahbi Avila-Burgos, Leticia Awaisu, Ahmed Azadnajafabad, Sina Darshan, B.B. Babamohamadi, Hassan Badar, Muhammad Badawi, Alaa Badiye, Ashish D. Baghcheghi, Nayereh Baghe Institute for Health Metrics and Evaluation School of Medicine General Medicine Service Department of Veterans Affairs Seattle WA United States Department of Health Metrics Sciences School of Medicine Faculty of Medicine France Department of Clinical Governance and Quality Improvement Aleta Wondo Hospital Aleta Wondo Ethiopia Department of Nursing Woldia University Woldia Ethiopia Department of Nursing Department of Orthopedic Surgery Orthopaedic Surgery Social Determinants of Health Research Center Non-communicable Diseases Research Center Epidemiology Department Evidence-Based Practice Center Community and Maternity Nursing Unit University of Duhok Duhok Iraq School of Planning Faculty of Environment Department of Public Health Sciences Penn State College of Medicine Pennsylvania State University Hershey PA United States Biocomplexity Institute Virginia Tech Blacksburg VA United States College of Medicine Department of Public Health Laboratory Technology Sciences Department Department of Family and Community Health University of Health and Allied Sciences Ho Ghana Research Center for Immunodeficiencies Department of Biosciences and Nutrition Karolinska University Hospital Huddinge Sweden Clinical Sciences Department Department of Surgery Department of Surgery Department of Obstetrics & Gynecology College of Graduate Health Sciences University of Tennessee Memphis TN United States Department of Obstetrics & Gynecology Department of Clinical and Psychosocial Epidemiology Department of Anesthesia and Critical Care Centre for Social Research in Health Quality and Systems Performance Unit Cancer Institute NSW Sydney NSW Australia Department of Public Health and Tropical Medicine HIV and Infectious Diseases Department Jhpiego Abuja Nigeria Adolescent Research and Care Department Adolescent Friendly Research Initiative and Care Ado Ekiti Nigeria Department of Epidemiology Department of Epidemiology and Medical Statistics Department of Family Medicine McMaster University

Background: Diabetes is one of the leading causes of death and disability worldwide, and affects people regardless of country, age group, or sex. Using the most recent evidentiary and analytical framework from the Global Burden of Diseases, Injuries, and Risk Factors Study (GBD), we produced location-specific, age-specific, and sex-specific estimates of diabetes prevalence and burden from 1990 to 2021, the proportion of type 1 and type 2 diabetes in 2021, the proportion of the type 2 diabetes burden attributable to selected risk factors, and projections of diabetes prevalence through 2050. Methods: Estimates of diabetes prevalence and burden were computed in 204 countries and territories, across 25 age groups, for males and females separately and combined;these estimates comprised lost years of healthy life, measured in disability-adjusted life-years (DALYs;defined as the sum of years of life lost [YLLs] and years lived with disability [YLDs]). We used the Cause of Death Ensemble model (CODEm) approach to estimate deaths due to diabetes, incorporating 25 666 location-years of data from vital registration and verbal autopsy reports in separate total (including both type 1 and type 2 diabetes) and type-specific models. Other forms of diabetes, including gestational and monogenic diabetes, were not explicitly modelled. Total and type 1 diabetes prevalence was estimated by use of a Bayesian meta-regression modelling tool, DisMod-MR 2.1, to analyse 1527 location-years of data from the scientific literature, survey microdata, and insurance claims;type 2 diabetes estimates were computed by subtracting type 1 diabetes from total estimates. Mortality and prevalence estimates, along with standard life expectancy and disability weights, were used to calculate YLLs, YLDs, and DALYs. When appropriate, we extrapolated estimates to a hypothetical population with a standardised age structure to allow comparison in populations with different age structures. We used the comparative r

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Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

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Nature genetics 2024年第10期56卷 2281页

作者： Qingbo S Wang Takanori Hasegawa Ho Namkoong Ryunosuke Saiki Ryuya Edahiro Kyuto Sonehara Hiromu Tanaka Shuhei Azekawa Shotaro Chubachi Yugo Takahashi Saori Sakaue Shinichi Namba Kenichi Yamamoto Yuichi Shiraishi Kenichi Chiba Hiroko Tanaka Hideki Makishima Yasuhito Nannya Zicong Zhang Rika Tsujikawa Ryuji Koike Tomomi Takano Makoto Ishii Akinori Kimura Fumitaka Inoue Takanori Kanai Koichi Fukunaga Seishi Ogawa Seiya Imoto Satoru Miyano Yukinori Okada Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. qingbow@m.u-tokyo.ac.jp. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. qingbow@m.u-tokyo.ac.jp. M&D Data Science Center Tokyo Medical and Dental University Tokyo Japan. Department of Infectious Diseases Keio University School of Medicine Tokyo Japan. hounamugun@keio.jp. Department of Pathology and Tumor Biology Kyoto University Kyoto Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Department of Respiratory Medicine and Clinical Immunology Osaka University Graduate School of Medicine Suita Japan. Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. Division of Pulmonary Medicine Department of Medicine Keio University School of Medicine Tokyo Japan. Faculty of Medicine Osaka University Suita Japan. Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. Divisions of Genetics and Rheumatology Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA. Laboratory of Children's Health and Genetics Division of Health Science Osaka University Graduate School of Medicine Suita Japan. Department of Pediatrics Osaka University Graduate School of Medicine Suita Japan. Division of Genome Analysis Platform Development National Cancer Center Research Institute Tokyo Japan. Institute for the Advanced Study of Human Biology (WPI-ASHBi) Kyoto University Kyoto Japan. Health Science Research and Development Center (HeRD) Tokyo Medical and Dental University Tokyo Japan. Laboratory of Veterinary Infectious Disease Department of Veterinary Medicine Kitasato University Tokyo Japan. Department of Respiratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan. In

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