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A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes

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Cell Reports Medicine 2025年第5期6卷 102084-102084页

作者： Han, Xudong Zhang, Yichi Petrosky, Jillian N. Bald, Sarah Sherva, Richard M. Labadorf, Adam Cherry, Jonathan D. Chung, Jaeyoon Farrell, Kurt Abdolmohammadi, Bobak Durape, Shruti Martin, Brett M. Palmisano, Joseph N. Farrell, John J. Alvarez, Victor E. Huber, Bertrand R. Dwyer, Brigid Daneshvar, Daniel H. Jun, Gyungah R. Lunetta, Kathryn L. Goldstein, Lee E. Katz, Douglas I. Cantu, Robert C. Shenton, Martha E. Cummings, Jeffrey L. Reiman, Eric M. Stern, Robert A. Alosco, Michael L. Tripodis, Yorghos Farrer, Lindsay A. Stein, Thor D. Crary, John F. McKee, Ann C. Mez, Jesse Bioinformatics Graduate Program Boston University Boston MA United States Section of Biomedical Genetics Department of Medicine Boston University Chobanian & Avedisian School of Medicine Boston MA United States Department of Neurology Boston University Chobanian & Avedisian School of Medicine Boston MA United States Boston University Alzheimer's Disease Research Center Boston University Chobanian & Avedisian School of Medicine Boston MA United States Boston VA Healthcare System Boston MA United States Boston University Chronic Traumatic Encephalopathy Center Boston University Boston MA United States Department of Pathology and Laboratory Medicine Boston University Chobanian & Avedisian School of Medicine Boston MA United States Departments of Pathology Neuroscience and Artificial Intelligence & Human Health Neuropathology Brain Bank & Research CoRE Friedman Brain Institute Ronald M. Loeb Center for Alzheimer's Disease Icahn School of Medicine at Mount Sinai New York NY United States Biostatistics and Epidemiology Data Analytics Center Boston University School of Public Health Boston MA United States Bedford VA Healthcare System Bedford MA United States Braintree Rehabilitation Hospital Braintree MA United States Department of Physical Medicine and Rehabilitation Harvard Medical School Boston MA United States Department of Rehabilitation and Human Performance Brain Injury Research Center Icahn School of Medicine at Mount Sinai New York NY United States Department of Neurology Icahn School of Medicine at Mount Sinai New York NY United States Department of Biostatistics Boston University School of Public Health Boston MA United States Department of Ophthalmology Boston University Chobanian & Avedisian School of Medicine Boston MA United States Departments of Biomedical Electrical & Computer Engineering Boston University College of Engineering Boston MA United States Departments of Radiology and Psychiatry Boston University Chobanian & Avedisia

Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head impact (RHI) exposure. Genetic variation in the 17q21.31 region, containing microtubule-associated protein tau (MAPT), has been implicated in tauopathies but has not been investigated in CTE. The region includes a megabase-long inversion (H1/H2) and copy-number variations, including α, β, and γ segments, which can be characterized as nine segregating structural haplotypes. We leveraged array SNP data and a reference panel across the 17q21.31 region to impute structural haplotypes and test their association with CTE endophenotypes in 447 European ancestry brain donors with RHI exposure. The H1β1γ1 haplotype was significantly associated with dementia and semi-quantitative tau burden in multiple cortical and medial temporal regions commonly affected in CTE. H1β1γ1 differential expression analyses in dorsolateral frontal cortex implicated cis-acting genes and inflammatory pathways. Taken together, the H1β1γ1 haplotype may help explain CTE heterogeneity among those with similar RHI exposure. © 2025 The Authors

关键词： 17q21.31 chronic traumatic encephalopathy dementia differential gene expression immune system MAPT repetitive head impacts structural haplotypes tauopathy traumatic brain injury

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Data analytics for fog computing by distributed online learning with asynchronous update

arXiv

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arXiv 2019年

作者： Li, Guangxia Zhao, Peilin Lu, Xiao Liu, Jia Shen, Yulong Shaanxi Key Laboratory of Network and System Security Xidian University China State Key Laboratory of Integrated Service Networks Xidian University China School of Computer Science and Technology Xidian University China Tencent AI Lab Tencent Inc. China Department of Electrical and Computer Engineering University of Alberta Canada

—Fog computing extends the cloud computing paradigm by allocating substantial portions of computations and services towards the edge of a network, and is, therefore, particularly suitable for large-scale, geo-distributed, and data-intensive applications. As the popularity of fog applications increases, there is a demand for the development of smart data analytic tools, which can process massive data streams in an efficient manner. To satisfy such requirements, we propose a system in which data streams generated from distributed sources are digested almost locally, whereas a relatively small amount of distilled information is converged to a center. The center extracts knowledge from the collected information, and shares it across all subordinates to boost their performances. Upon the proposed system, we devise a distributed machine learning algorithm using the online learning approach, which is well known for its high efficiency and innate ability to cope with streaming data. An asynchronous update strategy with rigorous theoretical support is applied to enhance the system robustness. Experimental results demonstrate that the proposed method is comparable with a model trained over a centralized platform in terms of the classification accuracy, whereas the efficiency and scalability of the overall system are improved. Copyright © 2019, The Authors. All rights reserved.

关键词： Fog computing

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Hamiltonian Hopping for Efficient Chiral Mode Switching in Encircling Exceptional Points

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Physical Review Letters 2020年第18期125卷 187403-187403页

作者： Aodong Li Jianji Dong Jian Wang Ziwei Cheng John S. Ho Dawei Zhang Jing Wen Xu-Lin Zhang C. T. Chan Andrea Alù Cheng-Wei Qiu Lin Chen Wuhan National Laboratory for Optoelectronics Huazhong University of Science and Technology Wuhan 430074 China Department of Electrical and Computer Engineering National University of Singapore Singapore 117583 Singapore Engineering Research Center of Optical Instrument and Systems Ministry of Education and Shanghai Key Lab of Modern Optical System University of Shanghai for Science and Technology No. 516 Jungong Road Shanghai 200093 China State Key Laboratory of Integrated Optoelectronics College of Electronic Science and Engineering Jilin University Changchun 130012 China Department of Physics The Hong Kong University of Science and Technology Clear Water Bay Hong Kong 999077 China Photonics Initiative Advanced Science Research Center City University of New York New York New York 10031 USA Physics Program Graduate Center City University of New York New York New York 10016 USA

Dynamically encircling exceptional points (EPs) can lead to chiral mode switching as the system parameters are varied along a path that encircles EP. However, conventional encircling protocols result in low transmittance due to path-dependent losses. Here, we present a paradigm to encircle EPs that includes fast Hamiltonian variations on the parameter boundaries, termed Hamiltonian hopping, enabling ultrahigh-efficiency chiral mode switching. This protocol avoids path-dependent loss and allows us to experimentally demonstrate nearly 90% efficiency at 1550 nm in the clockwise direction, overcoming a long-standing challenge of non-Hermitian optical systems and powering up new opportunities for EP physics.

关键词： Open quantum systems & decoherence PT-symmetric quantum mechanics Photonics Waveguides

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Editor-in-Chief

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IEEE Access 2024年 12卷 i-xi页

作者： Derek Abbott Sonia Aissa Anuradha Annaswamy Nirwan Ansari Jun Cai Kun-Shan Chen Yixin Chen J.-C. Chiao Ayman El-Baz Shaikh Fattah Hoay Gooi Maya Gokhale Chih-Lin Ⅰ Giuseppe Iannaccone Yumi Iwashita Bruce Jacob Abbas Jamalipour Bahram Javidi Weihua Jiang Okyay Kaynak Hulya Kirkici Germano Lambert-Torres Shengtao Li Michal Mrozowski Michele Nappi Dalma Novak Hugo Proença Yi Qian Zhihua Qu Susanto Rahardja Mehrdad Saif Ali Serpengüzel Peter H. Siegel Ashitey Trebi-Ollennu Daniela Tuninetti Ge Wang Keith A. Wear Andreas Weisshaar C. Patrick Yue Enrico Zio School of Electrical and Electronic Engineering University of Adelaide Adelaide SA Australia Institut National de la Recherche Scientifique (INRS) Québec City Canada Department of Mechanical Engineering Massachusetts Institute of Technology Cambridge MA USA Department of Electrical and Computer Engineering New Jersey Institute of Technology Newark NJ USA Concordia University Montreal Canada Guilin University of Technology Guilin China Washington University St. Louis MO USA Southern Methodist University Dallas TX USA University of Louisville/Bioengineering Department Louisville KY USA Department of Electrical and Electronic Engineering Bangladesh University of Engineering and Technology Dhaka Bangladesh Nanyang Technological University Jurong West Singapore Lawrence Livermore National Laboratory Livermore CA USA China Mobile Research Institute Beijing China University of Pisa Pisa Italy NASA-JPL California Institute of Technology Pasadena CA USA Florida Polytechnic University Lakeland FL USA The University of Sydney Sydney NSW Australia University of Connecticut Storrs CT USA Nagaoka University of Technology Nagaoka Niigata Japan Department of Electrical and Electronic Engineering Boğaziçi University Istanbul Turkey University of South Alabama Mobile AL USA Gnarus Institute Itajuba Brazil Xi’an Jiaotong University Xi’an China Gdansk University of Technology Gdansk Poland University of Salerno Fisciano Italy Octane Wireless Hanover MD USA University of Beira Interior Covilhã Portugal Department of Electrical and Computer Engineering University of NebraskaLincoln Lincoln NE USA University of Central Florida Orlando Florida USA Singapore Institute of Technology 10 Dover Dr Singapore Infocomm Technology Cluster 10 Dover Dr Singapore University of Windsor Windsor Canada Department of Physics Koç University Istanbul Turkey California Institute of Technology (CalTech) Pasadena California USA NASA-JPL Mobility and Robotics Systems S

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The association for the advancement of artificial intelligence 2020 workshop program

The association for the advancement of artificial intelligen...

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作者： Bang, Grace Barash, Guy Bea, Ryan Cali, Jacques Castillo-Effen, Mauricio Chen, Xin Cynthia Chhaya, Niyati Dhoopar, Rohan Dumancic, Sebastijan Espinoza, Huáscar Farchi, Eitan Fioretto, Ferdinando Fuentetaja, Raquel Galley, Michel Geib, Christopher Hernández-Orallo, José Huang, Xiaowei Keren, Sarah Kim, Seokhwan Jaidka, Kokil Liu, Xiaomo Lu, Tyler Ma, Zhiqiang Mallah, Richard McDermid, John Michalowski, Martin Mirsky, Reuth Héigeartaigh, Seán Ó. Ramachandran, Deepak Segovia-Aguas, Javier Shaban-Nejad, Arash Shehory, Onn Shwartz, Vered Srivastava, Siddharth Talamadupula, Kartik Tang, Jian Zhang, Dell Zhang, Jian S&P Global. Western Digital University of Southampton United Kingdom Blue Prism Group PLC Lockheed Martin's Advanced Technology Laboratories ArlingtonVA United States University of Hong Kong Hong Kong Adobe Research Google Research Katholieke Universiteit Leuven Belgium Commissariat à ĺÉnergie Atomique France IBM Research Department of Electrical Engineering and Computer Science Syracuse University United States Universidad Carlos III de Madrid Spain Microsoft Research AI SIFT LLC Universitat Politècnica de València Spain Leverhulme Centre for the Future of Intelligence United Kingdom Department of Computer Science University of Liverpool United Kingdom National University of Singapore Singapore Harvard School of Engineering and Applied Sciences in the of Fields of Multiagent Environment Design and Goal Recognition Design Amazon Alexa AI Future of Life Institute United States University of York Assuring Autonomy International Program United Kingdom University of Minnesota School of Nursing MinneapolisMN United States University of Texas at Austin AustinTX United States Institut de Robòtica i Informàtica Industrial Spanish Council for Scientific Research Technical University of Catalonia Spain Oak Ridge National Laboratory Center for Biomedical Informatics Department of Pediatrics University of Tennessee Health Science Center United States Bar Ilan University Israel University of Washington SeattleWA United States Autonomous Agents and Intelligent Robots lab of the School of Computing Informatics Decision Systems Arizona State University United States DiDi AI Labs School of Industrial and System Engineering Georgia Institute of Technology United States University of London United Kingdom Microsoft Azure

The Association for the Advancement of Artificial Intelligence 2020 Workshop Program included twenty-three workshops covering a wide range of topics in artificial intelligence. This report contains the required reports, which were submitted by most, but not all, of the workshop chairs. Copyright © 2020, Association for the Advancement of Artificial Intelligence. All rights reserved.

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The overlapping burden of the three leading causes of disability and death in sub-Saharan African children

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Nature Communications 2022年第1期13卷 1-14页

作者： Reiner, Robert C. Welgan, Catherine A. Troeger, Christopher E. Baumann, Mathew M. Weiss, Daniel J. Deshpande, Aniruddha Blacker, Brigette F. Miller-Petrie, Molly K. Earl, Lucas Bhatt, Samir Abolhassani, Hassan Abosetugn, Akine Eshete Abu-Gharbieh, Eman Adekanmbi, Victor Adetokunboh, Olatunji O. Aghaali, Mohammad Aji, Budi Alahdab, Fares Al-Aly, Ziyad Alhassan, Robert Kaba Ali, Saqib Alizade, Hesam Aljunid, Syed Mohamed Almasi-Hashiani, Amir Al-Mekhlafi, Hesham M. Altirkawi, Khalid A. Alvis-Guzman, Nelson Amare, Azmeraw T. Amini, Saeed Amugsi, Dickson A. Ancuceanu, Robert Andrei, Catalina Liliana Ansari, Fereshteh Anvari, Davood Appiah, Seth Christopher Yaw Arabloo, Jalal Aremu, Olatunde Atout, Maha Moh’d Wahbi Ausloos, Marcel Ausloos, Floriane Ayanore, Martin Amogre Aynalem, Yared Asmare Azene, Zelalem Nigussie Badawi, Alaa Baig, Atif Amin Banach, Maciej Bedi, Neeraj Bhagavathula, Akshaya Srikanth Bhandari, Dinesh Bhardwaj, Nikha Bhardwaj, Pankaj Bhattacharyya, Krittika Bhutta, Zulfiqar A. Bijani, Ali Birhanu, Tesega Tesega Mengistu Bitew, Zebenay Workneh Boloor, Archith Brady, Oliver J. Butt, Zahid A. Car, Josip Carvalho, Felix Casey, Daniel C. Chattu, Vijay Kumar Chowdhury, Mohiuddin Ahsanul Kabir Chu, Dinh-Toi Coelho, Camila H. Cook, Aubrey J. Damiani, Giovanni Daoud, Farah Gela, Jiregna Darega Darwish, Amira Hamed Daryani, Ahmad Das, Jai K. Davis Weaver, Nicole Deribe, Kebede Desalew, Assefa Dharmaratne, Samath Dhamminda Dianatinasab, Mostafa Diaz, Daniel Djalalinia, Shirin Dorostkar, Fariba Dubljanin, Eleonora Duko, Bereket Dwyer-Lindgren, Laura Effiong, Andem El Sayed Zaki, Maysaa El Tantawi, Maha Enany, Shymaa Fattahi, Nazir Feigin, Valery L. Fernandes, Eduarda Ferrara, Pietro Fischer, Florian Foigt, Nataliya A. Folayan, Morenike Oluwatoyin Foroutan, Masoud Frostad, Joseph Jon Fukumoto, Takeshi Gaidhane, Abhay Motiramji Gebrekrstos, Hailemikael Gebrekidan G. K. Gebremeskel, Leake Gebreslassie, Assefa Ayalew Gething, Peter W. Gezae, Kebede Embaye Ghadiri, Keyghobad Ghashghaee, Ahmad Golechha, Mahaveer Gubar Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Malaria Atlas Project University of Oxford Oxford United Kingdom Imperial College London London United Kingdom Department of Laboratory Medicine Karolinska University Hospital Huddinge Sweden Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Public Health Debre Berhan University Debre Berhan Ethiopia Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Population Health Sciences King’s College London London United Kingdom Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Stellenbosch South Africa Department of Global Health Stellenbosch University Cape Town South Africa Department of Epidemiology and Biostatistics Qom University of Medical Sciences Qom Iran Faculty of Medicine and Public Health Jenderal Soedirman University Purwokerto Indonesia Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States John T. Milliken Department of Internal Medicine Washington University in St. Louis St. Louis MO United States Clinical Epidemiology Center Department of Veterans Affairs St Louis MO United States Institute of Health Research University of Health and Allied Sciences Ho Ghana Department of Information Systems College of Economics and Political Science Sultan Qaboos University Muscat Oman Infectious and Tropical Disease Research Center Hormozgan University of Medical Sciences Bandar Abbas Iran Department of Health Policy and Management Kuwait University Safat Kuwait International Centre for Casemix and Clinical Coding National University of Malaysia Bandar Tun Razak Malaysia Department of Epidemiology Arak University of Medical Sciences Arak Iran Medical Research Center

Despite substantial declines since 2000, lower respiratory infections (LRIs), diarrhoeal diseases, and malaria remain among the leading causes of nonfatal and fatal disease burden for children under 5 years of age (under 5), primarily in sub-Saharan Africa (SSA). The spatial burden of each of these diseases has been estimated subnationally across SSA, yet no prior analyses have examined the pattern of their combined burden. Here we synthesise subnational estimates of the burden of LRIs, diarrhoea, and malaria in children under-5 from 2000 to 2017 for 43 sub-Saharan countries. Some units faced a relatively equal burden from each of the three diseases, while others had one or two dominant sources of unit-level burden, with no consistent pattern geographically across the entire subcontinent. Using a subnational counterfactual analysis, we show that nearly 300 million DALYs could have been averted since 2000 by raising all units to their national average. Our findings are directly relevant for decision-makers in determining which and targeting where the most appropriate interventions are for increasing child survival. © 2022, The Author(s).

关键词： Biogeography Epidemiology Infectious diseases Malaria

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Corrigendum: Ethanol-controlled peroxidation in liquid-anode discharges (2019 J. Phys. D: Appl. Phys. 52 425205)

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Journal of Physics D: Applied Physics 2021年第22期54卷

作者： Qiang Chen Jiao Lin Xinyi He Hailong Hu Junshuai Li Qing Xiong Bingyan Chen Zhengyong Song Hai Liu Qing Huo Liu Kostya (Ken) Ostrikov Institute of Electromagnetics and Acoustics Fujian Provincial Key Laboratory of Plasma and Magnetic Resonance Department of Electronic Science Xiamen University Xiamen 361005 People's Republic of China College of Physics and Information Engineering Fuzhou University Fuzhou 350116 People's Republic of China Key Laboratory of Special Function Materials and Structure Design of the Ministry of Education and School of Physical Science and Technology Lanzhou University Lanzhou 730000 People's Republic of China State Key Laboratory of Power Transmission Equipment and System Security and New Technology Chongqing University Chongqing 400044 People's Republic of China Department of Mathematics and Physics Hohai University Changzhou 213022 People's Republic of China School of Civil Engineering Guangzhou University Guangzhou 510006 People's Republic of China Department of Electrical and Computer Engineering Duke University Durham NC 27708 United States of America Institute for Future Environments and School of Chemistry Physics and Mechanical Engineering Queensland University of Technology Brisbane QLD 4000 Australia CSIRO-QUT Joint Sustainable Processes and Devices Laboratory Commonwealth Scientific and Industrial Research Organization PO Box 218 Lindfield NSW 2070 Australia

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Author Correction: Wireless multilateral devices for optogenetic studies of individual and social behaviors

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Nature neuroscience 2022年第10期25卷 1394页

作者： Yiyuan Yang Mingzheng Wu Abraham Vázquez-Guardado Amy J Wegener Jose G Grajales-Reyes Yujun Deng Taoyi Wang Raudel Avila Justin A Moreno Samuel Minkowicz Vasin Dumrongprechachan Jungyup Lee Shuangyang Zhang Alex A Legaria Yuhang Ma Sunita Mehta Daniel Franklin Layne Hartman Wubin Bai Mengdi Han Hangbo Zhao Wei Lu Yongjoon Yu Xing Sheng Anthony Banks Xinge Yu Zoe R Donaldson Robert W Gereau Cameron H Good Zhaoqian Xie Yonggang Huang Yevgenia Kozorovitskiy John A Rogers Department of Mechanical Engineering Northwestern University Evanston IL USA. Department of Neurobiology Northwestern University Evanston IL USA. Center for Bio-Integrated Electronics Northwestern University Evanston IL USA. US Army Research Laboratory Aberdeen Proving Ground MD USA. US Army Medical Research Institute of Chemical Defense Aberdeen Proving Ground MD USA. Washington University Pain Center and Department of Anesthesiology Washington University St. Louis MO USA. State Key Laboratory of Mechanical System and Vibration Shanghai Jiao Tong University Shanghai China. Department of Civil and Environmental Engineering Northwestern University Evanston IL USA. Department of Materials Science and Engineering Northwestern University Evanston IL USA. Department of Physics Tsinghua University Beijing China. SURVICE Engineering Belcamp MD USA. Chemistry of Life Processes Institutes Northwestern University Evanston IL USA. Neurolux Inc Evanston IL USA. School of Civil Engineering Southwest JiaoTong University Chengdu China. School of Chemical Engineering and Technology Tianjin University Tianjin People's Republic of China. CSIR-Central Scientific Instruments Organization Ministry of Science & Technology Sector 30-C Chandigarh India. Department of Biomedical Engineering Northwestern University Evanston IL USA. Department of Electronic Engineering Tsinghua University Beijing China. Simpson Querrey Institute & Feinberg Medical School Northwestern University Evanston IL USA. Department of Biomedical Engineering City University of Hong Kong Kowloong Tong Hong Kong. Psychology and Neuroscience Molecular Cellular and Developmental Biology University of Colorado Boulder Boulder CO USA. State Key Laboratory of Structural Analysis for Industrial Equipment Department of Engineering Mechanics Dalian University of Technology Dalian P.R. China. zxie@***. Department of Mechanical Engineering Northwestern University Evanston IL USA. y-huang@northwest

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The Liver Tumor Segmentation Benchmark (LiTS)

arXiv

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arXiv 2019年

作者： Bilic, Patrick Christ, Patrick Li, Hongwei Bran Vorontsov, Eugene Ben-Cohen, Avi Kaissis, Georgios Szeskin, Adi Jacobs, Colin Mamani, Gabriel Efrain Humpire Chartrand, Gabriel Lohöfer, Fabian Holch, Julian Walter Sommer, Wieland Hofmann, Felix Hostettler, Alexandre Lev-Cohain, Naama Drozdzal, Michal Amitai, Michal Marianne Vivanti, Refael Sosna, Jacob Ezhov, Ivan Sekuboyina, Anjany Navarro, Fernando Kofler, Florian Paetzold, Johannes C. Shit, Suprosanna Hu, Xiaobin Lipková, Jana Rempfler, Markus Piraud, Marie Kirschke, Jan Wiestler, Benedikt Zhang, Zhiheng Hülsemeyer, Christian Beetz, Marcel Ettlinger, Florian Antonelli, Michela Bae, Woong Bellver, Míriam Bi, Lei Chen, Hao Chlebus, Grzegorz Dam, Erik B. Dou, Qi Fu, Chi-Wing Georgescu, Bogdan Giró-I-Nieto, Xavier Gruen, Felix Han, Xu Heng, Pheng-Ann Hesser, Jürgen Moltz, Jan Hendrik Igel, Christian Isensee, Fabian Jäger, Paul Jia, Fucang Kaluva, Krishna Chaitanya Khened, Mahendra Kim, Ildoo Kim, Jae-Hun Kim, Sungwoong Kohl, Simon Konopczynski, Tomasz Kori, Avinash Krishnamurthi, Ganapathy Li, Fan Li, Hongchao Li, Junbo Li, Xiaomeng Lowengrub, John Ma, Jun Maier-Hein, Klaus Maninis, Kevis-Kokitsi Meine, Hans Merhof, Dorit Pai, Akshay Perslev, Mathias Petersen, Jens Pont-Tuset, Jordi Qi, Jin Qi, Xiaojuan Rippel, Oliver Roth, Karsten Sarasua, Ignacio Schenk, Andrea Shen, Zengming Torres, Jordi Wachinger, Christian Wang, Chunliang Weninger, Leon Wu, Jianrong Xu, Daguang Yang, Xiaoping Yu, Simon Chun-Ho Yuan, Yading Yue, Miao Zhang, Liping Cardoso, Jorge Bakas, Spyridon Braren, Rickmer Heinemann, Volker Pal, Christopher Tang, An Kadoury, Samuel Soler, Luc van Ginneken, Bram Greenspan, Hayit Joskowicz, Leo Menze, Bjoern Department of Informatics Technical University of Munich Germany Department of Quantitative Biomedicine University of Zurich Switzerland Ecole Polytechnique de Montréal Canada Department of Medical Imaging Radboud University Medical Center Nijmegen Netherlands Department of Biomedical Engineering Tel-Aviv University Israel Germany Pattern Analysis and Learning Group Department of Radiation Oncology Heidelberg University Hospital Heidelberg Germany Philips Research China Philips China Innovation Campus Shanghai China School of Biomedical Engineering & Imaging Sciences King0s College London London United Kingdom Institute for AI in Medicine Technical University of Munich Germany Department of Computer Science Guangdong University of Foreign Studies China Institute for diagnostic and interventional radiology Klinikum rechts der Isar Technical University of Munich Germany Institute for Diagnostic and Interventional Neuroradiology Klinikum Rechts der Isar Technical University of Munich Germany Department of Hepatobiliary Surgery The Affiliated Drum Tower Hospital Nanjing University Medical School China Department of Computing Imperial College London London United Kingdom Institute for Tissue Engineering and Regenerative Medicine Helmholtz Zentrum München Neuherberg Germany Brigham and Women's Hospital Harvard Medical School United States School of Computer Science and Engineering The Hebrew University of Jerusalem Israel University of Pennsylvania PA United States Pte. Ltd. Singapore Medical Imaging and Reconstruction Lab Department of Engineering Design Indian Institute of Technology Madras India Sensetime Shanghai China Department of Radiology Perelman School of Medicine University of Pennsylvania United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PA United States Co. Ltd China MontréalQC Canada Department of Radiology Radiation Oncology and Nuclear Medicine University of Montréal

In this work, we report the set-up and results of the Liver Tumor Segmentation Benchmark (LiTS), which was organized in conjunction with the IEEE International Symposium on Biomedical Imaging (ISBI) 2017 and the International Conferences on Medical Image Computing and computer-Assisted Intervention (MICCAI) 2017 and 2018. The image dataset is diverse and contains primary and secondary tumors with varied sizes and appearances with various lesion-to-background levels (hyper-/hypo-dense), created in collaboration with seven hospitals and research institutions. Seventy-five submitted liver and liver tumor segmentation algorithms were trained on a set of 131 computed tomography (CT) volumes and were tested on 70 unseen test images acquired from different patients. We found that not a single algorithm performed best for both liver and liver tumors in the three events. The best liver segmentation algorithm achieved a Dice score of 0.963, whereas, for tumor segmentation, the best algorithms achieved Dices scores of 0.674 (ISBI 2017), 0.702 (MICCAI 2017), and 0.739 (MICCAI 2018). Retrospectively, we performed additional analysis on liver tumor detection and revealed that not all top-performing segmentation algorithms worked well for tumor detection. The best liver tumor detection method achieved a lesion-wise recall of 0.458 (ISBI 2017), 0.515 (MICCAI 2017), and 0.554 (MICCAI 2018), indicating the need for further research. LiTS remains an active benchmark and resource for research, e.g., contributing the liver-related segmentation tasks in http://***/. In addition, both data and online evaluation are accessible via ***. © 2019, CC BY-NC-ND.

关键词： Deep learning

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Gene expression imputation across multiple brain regions provides insights into schizophrenia risk (vol 51, pg 659, 2019)

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NATURE GENETICS 2019年第6期51卷 1068-1068页

作者： Huckins, Laura M. Dobbyn, Amanda Ruderfer, Douglas M. Hoffman, Gabriel Wang, Weiqing Pardinas, Antonio F. Rajagopal, Veera M. Als, Thomas D. Nguyen, Hoang T. Girdhar, Kiran Boocock, James Roussos, Panos Fromer, Menachem Kramer, Robin Domenici, Enrico Gamazon, Eric R. Purcell, Shaun Demontis, Ditte Borglum, Anders D. Walters, James T. R. O'Donovan, Michael C. Sullivan, Patrick Owen, Michael J. Devlin, Bernie Sieberts, Solveig K. Cox, Nancy J. Im, Hae Kyung Sklar, Pamela Stahl, Eli A. Pamela Sklar Division of Psychiatric Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Genetics and Genomics Icahn School of Medicine at Mount Sinai New York NY USA Department of Psychiatry Icahn School of Medicine at Mount Sinai New York NY USA Icahn Institute for Genomics and Multiscale Biology Icahn School of Medicine at Mount Sinai New York NY USA Vanderbilt University Medical Center Nashville TN USA MRC Centre for Neuropsychiatric Genetics and Genomics Cardiff University Cardiff UK Department of Biomedicine Aarhus University Aarhus Denmark The Lundbeck Foundation Initiative for Integrative Psychiatric Research iPSYCH Denmark Center for Integrative Sequencing Aarhus University Aarhus Denmark Department of Human Genetics David Geffen School of Medicine University of California Los Angeles Los Angeles CA USA Human Brain Collection Core National Institute of Mental Health Bethesda MD USA Laboratory of Neurogenomic Biomarkers Centre for Integrative Biology (CIBIO) University of Trento Trento Italy Clare Hall University of Cambridge Cambridge UK University of North Carolina at Chapel Hill Chapel Hill NC USA Karolinska Institutet Stockholm Sweden Department of Psychiatry University of Pittsburgh Pittsburgh PA USA Systems Biology Sage Bionetworks Seattle WA USA Section of Genetic Medicine Department of Medicine University of Chicago Chicago IL USA Integrated Technology Research Laboratories Pharmaceutical Research Division Takeda Pharmaceutical Company Limited Fujisawa Japan Neuropsychiatry Section Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Neuropsychiatric Signaling Program Department of Psychiatry Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Psychiatry JJ Peters Virginia Medical Center Bronx NY USA Department of Neuroscience Icahn School of Medicine at Mount Sinai New York New York NY USA Friedman Brain Institute

Transcriptomic imputation approaches combine eQTL reference panels with large-scale genotype data in order to test associations between disease and gene expression. These genic associations could elucidate signals in complex genome-wide association study (GWAS) loci and may disentangle the role of different tissues in disease development. We used the largest eQTL reference panel for the dorso-lateral prefrontal cortex (DLPFC) to create a set of gene expression predictors and demonstrate their utility. We applied DLPFC and 12 GTEx-brain predictors to 40,299 schizophrenia cases and 65,264 matched controls for a large transcriptomic imputation study of schizophrenia. We identified 413 genic associations across 13 brain regions. Stepwise conditioning identified 67 non-MHC genes, of which 14 did not fall within previous GWAS loci. We identified 36 significantly enriched pathways, including hexosaminidase-A deficiency, and multiple porphyric disorder pathways. We investigated developmental expression patterns among the 67 non-MHC genes and identified specific groups of pre- and postnatal expression.

关键词： Gene expression Genome-wide association studies Schizophrenia Transcriptomics

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