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arXiv 2021年

作者： Pion-Tonachini, Luca Bouchard, Kristofer Martin, Hector Garcia Peisert, Sean Holtz, W. Bradley Aswani, Anil Dwivedi, Dipankar Wainwright, Haruko Pilania, Ghanshyam Nachman, Benjamin Marrone, Babetta L. Falco, Nicola Prabhat Arnold, Daniel Wolf-Yadlin, Alejandro Powers, Sarah Climer, Sharlee Jackson, Quinn Carlson, Ty Sohn, Michael Zwart, Petrus Kumar, Neeraj Justice, Amy Tomlin, Claire Jacobson, Daniel Micklem, Gos Gkoutos, Georgios V. Bickel, Peter J. Cazier, Jean-Baptiste Müller, Juliane Webb-Robertson, Bobbie-Jo Stevens, Rick Anderson, Mark Kreutz-Delgado, Ken Mahoney, Michael W. Brown, James B. Pattern Computer Inc. Friday HarborWA98250 United States Biosciences Area Lawrence Berkeley National Lab BerkeleyCA94803 United States Computational Research Division Lawrence Berkeley National Lab BerkeleyCA94720 United States Helen Wils Neuroscience Institute Redwood Center for Theoretical Neuroscience Uc Berkeley BerkeleyCA94720 United States Doe Agile BioFoundry Lawrence Berkeley National Laboratory BerkeleyCA94803 United States Joint BioEnergy Institute Lawrence Berkeley National Laboratory BerkeleyCA94803 United States Bcam Basque Center for Applied Mathematics Bilbao48009 Spain Computer Science University of California Davis DavisCA95616 United States Cenic La MiradaCA90638 United States Health Informatics University of California Davis School of Medicine SacramentoCA95817 United States Berkeley Institute for Data Science University of California Berkeley BerkeleyCA94720 United States Industrial Engineering and Operations Research University of California Berkeley BerkeleyCA94720 United States Environmental & Earth Sciences Area Lawrence Berkeley National Laboratory BerkeleyCA94803 United States Nuclear Engineering University of California Berkeley BerkeleyCA94720 United States Materials Science and Technology Division Los Alamos National Laboratory Los AlamosNM87545 United States Physics Division Lawrence Berkeley National Lab BerkeleyCA94720 United States Bioscience Division Los Alamos National Laboratory Los AlamosNM87545 United States Earth and Environmental Sciences Area Lawrence Berkeley National Lab BerkeleyCA94803 United States Energy Technologies Area Lawrence Berkeley National Lab BerkeleyCA94803 United States Computing and Computational Sciences Oak Ridge National Laboratory Oak RidgeTN37831 United States Industrial & Systems Engineering The University of Tennessee KnoxvilleTN37996 United States Department of Computer Science University of Missouri-Saint Louis St. LouisMO63121 United

We outline emerging opportunities and challenges to enhance the utility of AI for scientific discovery. The distinct goals of AI for industry versus the goals of AI for science create tension between identifying patterns in data versus discovering patterns in the world from data. If we address the fundamental challenges associated with "bridging the gap" between domain-driven scientific models and data-driven AI learning machines, then we expect that these AI models can transform hypothesis generation, scientific discovery, and the scientific process itself. © 2021, CC BY.

关键词： Learning systems

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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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An environment for sustainable research software in Germany and beyond: Current state, open challenges, and call for action

arXiv

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arXiv 2020年

作者： Anzt, Hartwig Bach, Felix Druskat, Stephan Löffler, Frank Loewe, Axel Renard, Bernhard Y. Seemann, Gunnar Struck, Alexander Achhammer, Elke Aggarwal, Piush Appel, Franziska Bader, Michael Brusch, Lutz Busse, Christian Chourdakis, Gerasimos Dabrowski, Piotr W. Ebert, Peter Flemisch, Bernd Friedl, Sven Fritzsch, Bernadette Funk, Maximilian D. Gast, Volker Goth, Florian Grad, Jean-Noël Hermann, Sibylle Hohmann, Florian Janosch, Stephan Kutra, Dominik Linxweiler, Jan Muth, Thilo Peters-Kottig, Wolfgang Rack, Fabian Raters, Fabian H.C. Rave, Stephan Reina, Guido Reißig, Malte Ropinski, Timo Schaarschmidt, Joerg Seibold, Heidi Thiele, Jan P. Uekerman, Benjamin Unger, Stefan Weeber, Rudolf Germany Innovative Computing Lab University of Tennessee KnoxvilleTN United States Department of English Studies Friedrich Schiller University Jena Germany Germany Department of Computer Science Humboldt-Universität zu Berlin Germany Heinz Nixdorf Chair for Distributed Information Systems Friedrich Schiller University Jena Germany Michael Stifel Center Jena Germany Center for Computation and Technology Louisiana State University Baton Rouge United States Germany Robert Koch Institute Berlin Germany Hasso Plattner Institute Faculty of Digital Engineering University of Potsdam Germany Institute for Experimental Cardiovascular Medicine University Heart Centre Freiburg Bad Krozingen Germany Faculty of Medicine University of Freiburg Freiburg Germany Matters of Activity. Image Space Material. Cluster of Excellence at Humboldt-Universität zu Berlin Germany Technische Universität München Germany Language Technology Lab Universität Duisburg-Essen Germany Germany Department of Informatics Technical University of Munich Germany Technische Universität Dresden Germany Deutsches Krebsforschungszentrum Heidelberg Germany Scientific Computing in Computer Science Technical University Munich Germany School of Computing Communication and Business Hochschule für Technik und Wirtschaft Berlin Germany Center for Bioinformatics Saar Saarland Informatics Campus Germany Institute for Modelling Hydraulic and Environmental Systems University of Stuttgart Germany Berlin Institute of Health Germany Scientific Computing Alfred Wegener Institute Helmholtz Center for Polar and Marine Research Bremerhaven Germany Max-Planck-Gesellschaft e.V. Institut für Theoretische Physik und Astrophysik Universität Würzburg Germany Institut für Computerphysik University of Stuttgart Germany University Library University of Stuttgart Germany Universität Bremen Germany Max Planck Institute of Molecular Cell Biology and Genetics Dresden Germany European Molecular Biology Laboratory Heidelb

Research software has become a central asset in academic research. It optimizes existing and enables new research methods, implements and embeds research knowledge, and constitutes an essential research product in itself. Research software must be sustainable in order to understand, replicate, reproduce, and build upon existing research or conduct new research effectively. In other words, software must be available, discoverable, usable, and adaptable to new needs, both now and in the future. Research software therefore requires an environment that supports sustainability. Hence, a change is needed in the way research software development and maintenance are currently motivated, incentivized, funded, structurally and infrastructurally supported, and legally treated. Failing to do so will threaten the quality and validity of research. In this paper, we identify challenges for research software sustainability in Germany and beyond, in terms of motivation, selection, research software engineering personnel, funding, infrastructure, and legal aspects. Besides researchers, we specifically address political and academic decision-makers to increase awareness of the importance and needs of sustainable research software practices. In particular, we recommend strategies and measures to create an environment for sustainable research software, with the ultimate goal to ensure that software-driven research is valid, reproducible and sustainable, and that software is recognized as a first class citizen in research. This paper is the outcome of two workshops run in Germany in 2019, at deRSE19 - the first International Conference of Research Software Engineers in Germany - and a dedicated DFG-supported follow-up workshop in Berlin. Copyright © 2020, The Authors. All rights reserved.

关键词： Software design

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MedShapeNet - A Large-Scale Dataset of 3D Medical Shapes for Computer Vision

arXiv

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arXiv 2023年

作者： Li, Jianning Zhou, Zongwei Yang, Jiancheng Pepe, Antonio Gsaxner, Christina Luijten, Gijs Qu, Chongyu Zhang, Tiezheng Chen, Xiaoxi Li, Wenxuan Wodzinski, Marek Friedrich, Paul Xie, Kangxian Jin, Yuan Ambigapathy, Narmada Nasca, Enrico Solak, Naida Melito, Gian Marco Vu, Viet Duc Memon, Afaque R. Schlachta, Christopher De Ribaupierre, Sandrine Patel, Rajnikant Eagleson, Roy Chen, Xiaojun Mächler, Heinrich Kirschke, Jan Stefan de la Rosa, Ezequiel Christ, Patrick Ferdinand Li, Hongwei Bran Ellis, David G. Aizenberg, Michele R. Gatidis, Sergios Küstner, Thomas Shusharina, Nadya Heller, Nicholas Andrearczyk, Vincent Depeursinge, Adrien Hatt, Mathieu Sekuboyina, Anjany Löffler, Maximilian Liebl, Hans Dorent, Reuben Vercauteren, Tom Shapey, Jonathan Kujawa, Aaron Cornelissen, Stefan Langenhuizen, Patrick Ben-Hamadou, Achraf Rekik, Ahmed Pujades, Sergi Boyer, Edmond Bolelli, Federico Grana, Costantino Lumetti, Luca Salehi, Hamidreza Ma, Jun Zhang, Yao Gharleghi, Ramtin Beier, Susann Sowmya, Arcot Garza-Villarreal, Eduardo A. Balducci, Thania Angeles-Valdez, Diego Souza, Roberto Rittner, Leticia Frayne, Richard Ji, Yuanfeng Ferrari, Vincenzo Chatterjee, Soumick Dubost, Florian Schreiber, Stefanie Mattern, Hendrik Speck, Oliver Haehn, Daniel John, Christoph Nürnberger, Andreas Pedrosa, João Ferreira, Carlos Aresta, Guilherme Cunha, António Campilho, Aurélio Suter, Yannick Garcia, Jose Lalande, Alain Vandenbossche, Vicky Van Oevelen, Aline Duquesne, Kate Mekhzoum, Hamza Vandemeulebroucke, Jef Audenaert, Emmanuel Krebs, Claudia van Leeuwen, Timo Vereecke, Evie Heidemeyer, Hauke Röhrig, Rainer Hölzle, Frank Badeli, Vahid Krieger, Kathrin Gunzer, Matthias Chen, Jianxu van Meegdenburg, Timo Dada, Amin Balzer, Miriam Fragemann, Jana Jonske, Frederic Rempe, Moritz Malorodov, Stanislav Bahnsen, Fin H. Seibold, Constantin Jaus, Alexander Marinov, Zdravko Jaeger, Paul F. Stiefelhagen, Rainer Santos, Ana Sofia Lindo, Mariana Ferreira, André Alves, Victor Kamp, Michael Abourayya, Amr Nensa, Felix Hörst, Fabian Brehmer, Alexander Hein Girardetstraße 2 Essen45131 Germany Graz University of Technology Inffeldgasse 16c Graz8010 Austria Graz Austria The Department of Computer Science Johns Hopkins University Malone Hall 3400 N Charles St BaltimoreMD21218 United States Rte Cantonale Lausanne1015 Switzerland The Department of Measurement and Electronics AGH University of Science and Technology Krakow Poland Sierre Switzerland Department of Biomedical Engineering University of Basel Hegenheimermattweg Allschwil167C CH-4123 Switzerland The Boston College 140 Commonwealth Ave Chestnut HillMA02467 United States University Hospital B7-200 339 Windermere Road LondonN6A 5A5 Canada The Department of Radiology Renji Hospital School of Medicine Shanghai Jiao Tong University Shanghai200240 China The Research Center for Connected Healthcare Big Data ZhejiangLab Zhejiang Hangzhou311121 China The Faculty of Statistics Technical University Dortmund August-Schmidt-Straße 1 Dortmund44227 Germany The Institute of Mechanics Graz University of Technology Kopernikusgasse 24/IV Graz8010 Austria The Institute of Biomedical Manufacturing and Life Quality Engineering State Key Laboratory of Mechanical System and Vibration School of Mechanical Engineering Shanghai Jiao Tong University 800 Dongchuan Road Shanghai200240 China The Department of Cardiac Surgery Medical University Graz Auenbruggerplatz 29 Graz8036 Austria The Department of Diagnostic and Interventional Radiology University Hospital Giessen Justus-Liebig-University Giessen Klinikstraße 33 Giessen35392 Germany The Department of Mechanical Engineering Mehran University of Engineering and Technology Jamshoro Sindh76062 Pakistan The Institute of Medical Robotics Shanghai Jiao Tong University Shanghai China The Geschäftsführender Oberarzt Abteilung für Interventionelle und Diagnostische Neuroradiologie Universitätsklinikum der Technischen Universität München Ismaningerstr. 22 München81675 Germany icometrix Kolonel Be

Prior to the deep learning era, shape was commonly used to describe the objects. Nowadays, state-of-the-art (SOTA) algorithms in medical imaging are predominantly diverging from computer vision, where voxel grids, meshes, point clouds, and implicit surface models are used. This is seen from numerous shape-related publications in premier vision conferences as well as the growing popularity of ShapeNet (about 51,300 models) and Princeton ModelNet (127,915 models). For the medical domain, we present a large collection of anatomical shapes (e.g., bones, organs, vessels) and 3D models of surgical instrument, called MedShapeNet, created to facilitate the translation of data-driven vision algorithms to medical applications and to adapt SOTA vision algorithms to medical problems. As a unique feature, we directly model the majority of shapes on the imaging data of real patients. As of today, MedShapeNet includes 23 datasets with more than 100,000 shapes that are paired with annotations (ground truth). Our data is freely accessible via a web interface and a Python application programming interface (API) and can be used for discriminative, reconstructive, and variational benchmarks as well as various applications in virtual, augmented, or mixed reality, and 3D printing. Exemplary, we present use cases in the fields of classification of brain tumors, skull reconstructions, multi-class anatomy completion, education, and 3D printing. In future, we will extend the data and improve the interfaces. The project pages are: https://***/ and https://***/Jianningli/*** Codes 68T01 © 2023, CC BY.

关键词： Large dataset

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Adding Search Queries to Picture Lifelogs for Memory Retrieval

Adding Search Queries to Picture Lifelogs for Memory Retriev...

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2016 IEEE/WIC/ACM International Conference on Web Intelligence, WI 2016

作者： Kubota, Akira Tominaga, Tomu Hijikata, Yoshinori Sakata, Nobuchika Division of Systems Science and Applied Informatics Graduate School of Engineering Science Osaka University 1-3 Machikaneyama Toyonaka Japan

ISBN: (纸本)9781509044702

A picture lifelog is a type of lifelog that consists of pictures, mainly taken by the user. Recently, users have been able to easily create picture lifelogs because many portable devices such as smart phones have a camera. When a user sees a picture in their picture lifelog, it is sometimes difficult to recall the events related to the picture. Therefore, we proposed to combine search queries on a picture lifelog in order to support memory retrieval. Search queries are input into a web search engine to satisfy a user's need for information. Recently, because of the prevalence of smart phones, the opportunity to input search queries has increased to anytime and anywhere. Search queries are stored in a cloud user database such as Google search history. In addition, those search queries imply what the user was thinking at the time. We investigated whether search queries enable a user to recall their thoughts regarding picture lifelogs. Thus, we conducted an experiment to ascertain whether search queries reminded a user of past events. As a result, we reveal that displaying a picture with search queries performed around the time it was taken tends to improve users' memories better than its time, location, or emails sent during that time. © 2016 IEEE.

关键词： Search engines

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Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Dec, 10.1038/s41467-019-13824-9, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-1页

作者： Sieverling, Lina Hong, Chen Koser, Sandra D. Ginsbach, Philip Kleinheinz, Kortine Hutter, Barbara Braun, Delia M. Cortes-Ciriano, Isidro Xi, Ruibin Kabbe, Rolf Park, Peter J. Eils, Roland Schlesner, Matthias Brors, Benedikt Rippe, Karsten Jones, David T. W. Feuerbach, Lars Division of Applied Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Faculty of Biosciences Heidelberg University 69120 Heidelberg Germany Division of Applied Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Department for Bioinformatics and Functional Genomics Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant 69120 Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Institute of Pharmacy and Molecular Biotechnology and BioQuant Heidelberg University Heidelberg Germany German Cancer Consortium (DKTK) Heidelberg Germany National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany Heidelberg Center for Personalized Oncology (DKFZ-HIPO) German Cancer Research Center (DKFZ) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Division of Chromatin Networks German Cancer Research Center (DKFZ) and BioQuant 69120 Heidelberg Germany Department of Biomedical Informatics Harvard Medical School Boston Massachusetts 02115 USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge CB2 1EW UK Ludwig Center at Harvard Medical School Boston Massachusetts 02115 USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge UK Ludwig Center at Harvard Medical School Boston MA USA School of Mathematical Sciences and Center for Statistical Science Peking University Beijing 100871 China Heidelberg University Heidelberg Germany New BIH Digital Health Center Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin Berlin Germany Bioi

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

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

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

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

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The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI

arXiv

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arXiv 2023年

作者： Moawad, Ahmed W. Janas, Anastasia Baid, Ujjwal Ramakrishnan, Divya Saluja, Rachit Ashraf, Nader Jekel, Leon Amiruddin, Raisa Adewole, Maruf Albrecht, Jake Anazodo, Udunna Aneja, Sanjay Anwar, Syed Muhammad Bergquist, Timothy Calabrese, Evan Chiang, Veronica Chung, Verena Conte, Gian Marco Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Iglesias, Juan Eugenio Jiang, Zhifan Johanson, Elaine Kazerooni, Anahita Fathi Kofler, Florian Krantchev, Kiril LaBella, Dominic Van Leemput, Koen Li, Hongwei Bran Linguraru, Marius George Link, Katherine E. Liu, Xinyang Maleki, Nazanin Meier, Zeke Menze, Bjoern H. Moy, Harrison Osenberg, Klara Piraud, Marie Reitman, Zachary Shinohara, Russel Takeshi Tahon, Nourel hoda Nada, Ayman Velichko, Yuri S. Wang, Chunhao Wiestler, Benedikt Wiggins, Walter Shafique, Umber Willms, Klara Avesta, Arman Bousabarah, Khaled Chakrabarty, Satrajit Gennaro, Nicolo Holler, Wolfgang Kaur, Manpreet LaMontagne, Pamela Lin, MingDe Lost, Jan Marcus, Daniel S. Maresca, Ryan Merkaj, Sarah Nada, Ayaman Pedersen, Gabriel Cassinelli von Reppert, Marc Sotiras, Aristeidis Teytelboym, Oleg Tillmans, Niklas Westerhoff, Malte Youssef, Ayda Godfrey, Devon Floyd, Scott Rauschecker, Andreas Villanueva-Meyer, Javier Pflüger, Irada Cho, Jaeyoung Bendszus, Martin Brugnara, Gianluca Cramer, Justin Perez-Carillo, Gloria Guzman J. Johnson, Derek R. Kam, Anthony Kwan, Benjamin Yin Ming Lai, Lillian Lall, Neil U. Memon, Fatima Patro, Satya Narayana Petrovic, Bojan So, Tiffany Y. Thompson, Gerard Wu, Lei Schrickel, E. Brooke Bansal, Anu Barkhof, Frederik Besada, Cristina Chu, Sammy Druzgal, Jason Dusoi, Alexandru Farage, Luciano Feltrin, Fabricio Fong, Amy Fung, Steve H. Gray, R. Ian Ikuta, Ichiro Iv, Michael Postma, Alida A. Mahajan, Amit Joyner, David Krumpelman, Chase Letourneau-Guillon, Laurent Lincoln, Christie M. Maros, Mate E. Miller, Elka Morón, Fanny Nimchinsky, Esther A. Ozsarlak, Ozkan Patel, Uresh Rohatgi, Saurabh Saha, Atin Sayah, Anousheh Schwartz, Eric D. Shih, Robert Shiroishi, Mark Trinity health Mid Atlantic Hosiptals DarbyPA United States Department of Radiology and Biomedical Imaging Yale School of Medicine New HavenCT United States Division of Computational Pathology Department of Pathology and Laboratory Medicine School of Medicine Indiana University IndianapolisIN United States Department of Electical and Computer Engineering Cornell University Cornell Tech New YorkNY United States Department of Radiology Weill Cornell Medicine New YorkNY United States ImagineQuant Children’s Hospital of Philadelphia PhiladelphiaPA United States College of Medicine Alfaisal University Riyadh Saudi Arabia DKFZ Division of Translational Neurooncology The WTZ German Cancer Consortium DKTK Partner Site University Hospital Essen Essen Germany Medical Artificial Intelligence Lab Crestview Radiology Lagos Nigeria Sage Bionetworks SeattleWA United States Montreal Neurological Institute McGill University Montreal Canada lab Crestview Radiology Lagos Nigeria Department of Therapeutic Radiology Yale School of Medicine New HavenCT United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Radiology Mayo Clinic RochesterMN United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Neurosurgery Yale School of Medicine New HavenCT United States Center for Global Health Perelman School of Medicine University of Pennsylvania PA United States Department of Informatics Technical University Munich Germany Children’s Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Children’s National Hospital WashingtonDC United States PrecisionFDA U.S. Food and Drug Administration S

The translation of AI-generated brain metastases (BM) segmentation into clinical practice relies heavily on diverse, high-quality annotated medical imaging datasets. The BraTS-METS 2023 challenge has gained momentum for testing and benchmarking algorithms using rigorously annotated internationally compiled real-world datasets. This study presents the results of the segmentation challenge and characterizes the challenging cases that impacted the performance of the winning algorithms. Untreated brain metastases on standard anatomic MRI sequences (T1, T2, FLAIR, T1PG) from eight contributed international datasets were annotated in stepwise method: published UNET algorithms, student, neuroradiologist, final approver neuroradiologist. Segmentations were ranked based on lesion-wise Dice and Hausdorff distance (HD95) scores. False positives (FP) and false negatives (FN) were rigorously penalized, receiving a score of 0 for Dice and a fixed penalty of 374 for HD95. The mean scores for the teams were calculated. Eight datasets comprising 1303 studies were annotated, with 402 studies (3076 lesions) released on Synapse as publicly available datasets to challenge competitors. Additionally, 31 studies (139 lesions) were held out for validation, and 59 studies (218 lesions) were used for testing. Segmentation accuracy was measured as rank across subjects, with the winning team achieving a LesionWise mean score of 7.9. The Dice score for the winning team was 0.65 ± 0.25. Common errors among the leading teams included false negatives for small lesions and misregistration of masks in space. The Dice scores and lesion detection rates of all algorithms diminished with decreasing tumor size, particularly for tumors smaller than 100 mm3. In conclusion, algorithms for BM segmentation require further refinement to balance high sensitivity in lesion detection with the minimization of false positives and negatives. The BraTS-METS 2023 challenge successfully curated well-annotated, diverse d

关键词： Image segmentation

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Genome-wide association study of intracranial aneurysms identifies 17 risk loci and genetic overlap with clinical risk factors (vol 52, pg 1303, 2020)

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NATURE GENETICS 2021年第2期53卷 254-254页

作者： Bakker, Mark K. Van der Spek, Rick A. A. Van Rheenen, Wouter Morel, Sandrine Bourcier, Romain Hostettler, Isabel C. Alg, Varinder S. Van Eijk, Kristel R. Koido, Masaru Akiyama, Masato Terao, Chikashi Matsuda, Koichi Walters, Robin G. Lin, Kuang Li, Liming Millwood, Iona Y. Chen, Zhengming Rouleau, Guy A. Zhou, Sirui Rannikmae, Kristiina Sudlow, Cathie L. M. Houlden, Henry Van den Berg, Leonard H. Dina, Christian Naggara, Olivier Gentric, Jean-Christophe Shotar, Eimad Eugene, Francois Desal, Hubert Winsvold, Bendik S. Borte, Sigrid Johnsen, Marianne Bakke Brumpton, Ben M. Sandvei, Marie Softeland Willer, Cristen J. Hveem, Kristian Zwart, John-Anker Verschuren, W. M. Monique Friedrich, Christoph M. Hirsch, Sven Schilling, Sabine Dauvillier, Jerome Martin, Olivier Jones, Gregory T. Bown, Matthew J. Ko, Nerissa U. Kim, Helen Coleman, Jonathan R. I. Breen, Gerome Zaroff, Jonathan G. Klijn, Catharina J. M. Malik, Rainer Dichgans, Martin Sargurupremraj, Muralidharan Tatlisumak, Turgut Amouyel, Philippe Debette, Stephanie Rinkel, Gabriel J. E. Worrall, Bradford B. Pera, Joanna Slowik, Agnieszka Gaal-Paavola, Emilia I. Niemela, Mika Jaaskelainen, Juha E. Zu Fraunberg, Mikael Von Und Lindgren, Antti Broderick, Joseph P. Werring, David J. Woo, Daniel Redon, Richard Bijlenga, Philippe Kamatani, Yoichiro Veldink, Jan H. Ruigrok, Ynte M. Department of Neurology and Neurosurgery University Medical Center Utrecht Brain Center Utrecht University Utrecht the Netherlands Department of Pathology and Immunology Faculty of Medicine University of Geneva Geneva Switzerland Neurosurgery Division Department of Clinical Neurosciences Faculty of Medicine Geneva University Hospitals Geneva Switzerland l’institut du thorax Université de Nantes CHU Nantes INSERM CNRS Nantes France CHU Nantes Department of Neuroradiology Nantes France Stroke Research Centre University College London Queen Square Institute of Neurology London UK Department of Neurosurgery Klinikum rechts der Isar Technical University Munich Munich Germany Laboratory for Statistical and Translational Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Department of Cancer Biology Institute of Medical Science The University of Tokyo Tokyo Japan Department of Ophthalmology Graduate School of Medical Sciences Kyushu University Fukuoka Japan Department of Ocular Pathology and Imaging Science Graduate School of Medical Sciences Kyushu University Fukuoka Japan Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan Laboratory of Clinical Genome Sequencing Graduate School of Frontier Sciences The University of Tokyo Tokyo Japan Clinical Trial Service Unit and Epidemiological Studies Unit Nuffield Department of Population Health University of Oxford Oxford UK Medical Research Council Population Health Research Unit University of Oxford Oxford UK Department of Epidemiology School of Public Health Peking University Health Science Center Beijing China Montréal Neurological Institute and Hospital McGill University Montréal Québec Canada Lady Davis Institute Jewish General Hospital McGill University Montréal Québec Canada Centre for Medical Informatics Usher Institute University of Edinburgh Edinburgh UK UK Biobank Cheadle Stockport UK Neurogenetics Laboratory The National Hospital of Neurology and Ne

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