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Deciphering colorectal cancer genetics through multi-omic analysis of 100,204 cases and 154,587 controls of European and east Asian ancestries (vol 55, pg 89, 2023)

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NATURE GENETICS 2023年第3期55卷 519-520页

作者： Fernandez-Rozadilla, Ceres Timofeeva, Maria Chen, Zhishan Law, Philip Thomas, Minta Schmit, Stephanie Diez-Obrero, Virginia Hsu, Li Fernandez-Tajes, Juan Palles, Claire Sherwood, Kitty Briggs, Sarah Svinti, Victoria Donnelly, Kevin Farrington, Susan Blackmur, James Vaughan-Shaw, Peter Shu, Xiao-ou Long, Jirong Cai, Qiuyin Guo, Xingyi Lu, Yingchang Broderick, Peter Studd, James Huyghe, Jeroen Harrison, Tabitha Conti, David Dampier, Christopher Devall, Mathew Schumacher, Fredrick Melas, Marilena Rennert, Gad Obon-Santacana, Mireia Martin-Sanchez, Vicente Moratalla-Navarro, Ferran Oh, Jae Hwan Kim, Jeongseon Jee, Sun Ha Jung, Keum Ji Kweon, Sun-Seog Shin, Min-Ho Shin, Aesun Ahn, Yoon-Ok Kim, Dong-Hyun Oze, Isao Wen, Wanqing Matsuo, Keitaro Matsuda, Koichi Tanikawa, Chizu Ren, Zefang Gao, Yu-Tang Jia, Wei-Hua Hopper, John Jenkins, Mark Win, Aung Ko Pai, Rish Figueiredo, Jane Haile, Robert Gallinger, Steven Woods, Michael Newcomb, Polly Duggan, David Cheadle, Jeremy Kaplan, Richard Maughan, Timothy Kerr, Rachel Kerr, David Kirac, Iva Bohm, Jan Mecklin, Lukka-Pekka Jousilahti, Pekka Knekt, Paul Aaltonen, Lauri Rissanen, Harri Pukkala, Eero Eriksson, Johan Cajuso, Tatiana Hanninen, Ulrika Kondelin, Johanna Palin, Kimmo Tanskanen, Tomas Renkonen-Sinisalo, Laura Zanke, Brent Mannisto, Satu Albanes, Demetrius Weinstein, Stephanie Ruiz-Narvaez, Edward Palmer, Julie Buchanan, Daniel Platz, Elizabeth Visvanathan, Kala Ulrich, Cornelia Siegel, Erin Brezina, Stefanie Gsur, Andrea Campbell, Peter Chang-Claude, Jenny Hoffmeister, Michael Brenner, Hermann Slattery, Martha Potter, John Tsilidis, Konstantinos Schulze, Matthias Gunter, Marc Murphy, Neil Castells, Antoni Castellvi-Bel, Sergi Moreira, Leticia Arndt, Volker Shcherbina, Anna Stern, Mariana Pardamean, Bens Bishop, Timothy Giles, Graham Southey, Melissa Idos, Gregory McDonnell, Kevin Abu-Ful, Zomoroda Greenson, Joel Shulman, Katerina Lejbkowicz, Flavio Offit, Kenneth Su, Yu-Ru Steinfelder, Robert Keku, Temitope van Guelpen, Bethany Hudson, Thomas Hampel, Heather Pearlman, Edinburgh Cancer Research Centre Institute of Genomics and Cancer University of Edinburgh Edinburgh UK Genomic Medicine Group Instituto de Investigacion Sanitaria de Santiago Santiago de Compostela Spain Colon Cancer Genetics Group Medical Research Council Human Genetics Unit Institute of Genetics and Cancer University of Edinburgh Edinburgh UK Danish Institute for Advanced Study Department of Public Health University of Southern Denmark Odense Denmark Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University Medical Center Nashville TN USA Division of Genetics and Epidemiology Institute of Cancer Research London UK Public Health Sciences Division Fred Hutchinson Cancer Research Center Seattle WA USA Genomic Medicine Institute Cleveland Clinic Cleveland OH USA Population and Cancer Prevention Program Case Comprehensive Cancer Center Cleveland OH USA Colorectal Cancer Group ONCOBELL Program Bellvitge Biomedical Research Institute Barcelona Spain Oncology Data Analytics Program Catalan Institute of Oncology Barcelona Spain Consortium for Biomedical Research in Epidemiology and Public Health Madrid Madrid Spain Department of Clinical Sciences Faculty of Medicine University of Barcelona Barcelona Spain Department of Biostatistics School of Public Health University of Washington Seattle WA USA Institute of Cancer and Genomic Sciences College of Medical and Dental Sciences University of Birmingham Birmingham UK Department of Public Health Richard Doll Building University of Oxford Oxford UK Department of Biomedical Informatics Vanderbilt University School of Medicine Nashville TN USA Department of Preventive Medicine USC Norris Comprehensive Cancer Center Keck School of Medicine University of Southern California Los Angeles CA USA Center for Public Health Genomics Department of Public Health Sciences University of Virginia Charlottesville VA USA Department of Populat

Colorectal cancer (CRC) is a leading cause of mortality worldwide. We conducted a genome-wide association study meta-analysis of 100,204 CRC cases and 154,587 controls of European and east Asian ancestry, identifying 205 independent risk associations, of which 50 were unreported. We performed integrative genomic, transcriptomic and methylomic analyses across large bowel mucosa and other tissues. Transcriptome- and methylome-wide association studies revealed an additional 53 risk associations. We identified 155 high-confidence effector genes functionally linked to CRC risk, many of which had no previously established role in CRC. These have multiple different functions and specifically indicate that variation in normal colorectal homeostasis, proliferation, cell adhesion, migration, immunity and microbial interactions determines CRC risk. Crosstissue analyses indicated that over a third of effector genes most probably act outside the colonic mucosa. Our findings provide insights into colorectal oncogenesis and highlight potential targets across tissues for new CRC treatment and chemoprevention strategies.

关键词： Colorectal cancer Epigenomics Genome-wide association studies Transcriptomics

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Assessing Trustworthy AI in Times of COVID-19: Deep Learning for Predicting a Multiregional Score Conveying the Degree of Lung Compromise in COVID-19 Patients

IEEE Transactions on Technology and Society

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IEEE Transactions on Technology and Society 2022年第4期3卷 272-289页

作者： Allahabadi, Himanshi Amann, Julia Balot, Isabelle Beretta, Andrea Binkley, Charles Bozenhard, Jonas Bruneault, Frederick Brusseau, James Candemir, Sema Cappellini, Luca Alessandro Chakraborty, Subrata Cherciu, Nicoleta Cociancig, Christina Coffee, Megan Ek, Irene Espinosa-Leal, Leonardo Farina, Davide Fieux-Castagnet, Genevieve Frauenfelder, Thomas Gallucci, Alessio Giuliani, Guya Golda, Adam Van Halem, Irmhild Hildt, Elisabeth Holm, Sune Kararigas, Georgios Krier, Sebastien A. Kuhne, Ulrich Lizzi, Francesca Madai, Vince I. Markus, Aniek F. Masis, Serg Mathez, Emilie Wiinblad Mureddu, Francesco Neri, Emanuele Osika, Walter Ozols, Matiss Panigutti, Cecilia Parent, Brendan Pratesi, Francesca Moreno-Sanchez, Pedro A. Sartor, Giovanni Savardi, Mattia Signoroni, Alberto Sormunen, Hanna-Maria Spezzatti, Andy Srivastava, Adarsh Stephansen, Annette F. Theng, Lau Bee Tithi, Jesmin Jahan Tuominen, Jarno Umbrello, Steven Vaccher, Filippo Vetter, Dennis Westerlund, Magnus Wurth, Renee Zicari, Roberto V. Ey Netherlands Enterprise Intelligence Department Amsterdam1083 HP Netherlands Eth Zurich Health Ethics and Policy Lab Department of Health Sciences and Technology Zürich8092 Switzerland Center for Diplomatic and Strategic Studies Postgraduate Studies in Diplomacy and International Relations Paris75015 France Pisa56124 Italy Hackensack Meridian Health Bioethics Center EdisonNJ08820 United States University of Oxford Faculty of Philosophy OxfordOX2 6GG United Kingdom Collège André- Laurendeau Philosophie Department MontrealQCH8N 2J4 Canada Université du Québec À Montréal École des Médias MontrealQCH2L 2C4 Canada Pace University Philosophy Department New YorkNY10038 United States The Ohio State University Wexner Medical Center Department of Radiology ColumbusOH43210 United States Humanitas Research Hospital Department of Radiology Milan20089 Italy Humanitas University Department of Biomedical Sciences Milan20089 Italy University of New England Faculty of Science Agriculture Business and Law ArmidaleNSW2351 Australia University of Technology Sydney Faculty of Engineering and Information Technology SydneyNSW2007 Australia Scuola Superiore Sant'Anna European Centre of Excellence on the Regulation of Robotics and Ai Pisa56127 Italy University of Bremen Group of Computer Architecture Bremen28359 Germany New York University Grossman School of Medicine Division of Infectious Diseases and Immunology Department of Medicine New YorkNY10016 United States Digital Institute Ai Research Section Stockholm16731 Sweden Arcada University of Applied Sciences Department of Business Management and Analytics Helsinki00550 Finland University of Brescia Radiological Sciences and Public Health Department of Medical and Surgical Specialties Brescia25121 Italy Sncf Reseau Sa Ethique Groupe La Plaine93418 France Institute of Diagnostic and Interventional Radiology University Hospital Zurich Zürich8091 Switzerland Eindhoven University of Tech

This article's main contributions are twofold: 1) to demonstrate how to apply the general European Union's High-Level Expert Group's (EU HLEG) guidelines for trustworthy AI in practice for the domain of healthcare and 2) to investigate the research question of what does 'trustworthy AI' mean at the time of the COVID-19 pandemic. To this end, we present the results of a post-hoc self-assessment to evaluate the trustworthiness of an AI system for predicting a multiregional score conveying the degree of lung compromise in COVID-19 patients, developed and verified by an interdisciplinary team with members from academia, public hospitals, and industry in time of pandemic. The AI system aims to help radiologists to estimate and communicate the severity of damage in a patient's lung from Chest X-rays. It has been experimentally deployed in the radiology department of the ASST Spedali Civili clinic in Brescia, Italy, since December 2020 during pandemic time. The methodology we have applied for our post-hoc assessment, called Z-Inspection®, uses sociotechnical scenarios to identify ethical, technical, and domain-specific issues in the use of the AI system in the context of the pandemic. © 2020 IEEE.

关键词： COVID-19

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Enhancing the sustainability and effectiveness of non-governmental organizations: An integrated neutrosophic decision-making model for determining the most effective corporate governance strategies

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engineering Applications of Artificial Intelligence 2025年 156卷

作者： Emrah Ayhan Hakan Gökhan Gündoğdu Ahmet Aytekin Ahmet Furkan Karakaya Vladimir Simic Dragan Pamucar Department of Political Science and Public Administration Faculty of Economics and Administrative Sciences Anadolu University Tepebaşı 26470 Eskişehir Türkiye Department of Business Administration Hopa Faculty of Economics and Administrative Sciences Artvin Çoruh University Hopa 08100 Artvin Türkiye Public Administration Master Program Graduate Education Institute Anadolu University Tepebaşı 26470 Eskişehir Türkiye University of Belgrade Faculty of Transport and Traffic Engineering Vojvode Stepe 305 11010 Belgrade Serbia Yuan Ze University College of Engineering Department of Industrial Engineering and Management Taoyuan City 320315 Taiwan Department of Computer Science and Engineering College of Informatics Korea University 145 Anam-ro Seongbuk-gu Seoul 02841 Republic of Korea Department of Operations Research and Statistics Faculty of Organizational Sciences University of Belgrade Belgrade Serbia Department of Mechanics and Mathematics Western Caspian University Baku Azerbaijan İstinye University Faculty of Engineering and Natural Sciences Industrial Engineering Department Sarıyer 34396 İstanbul Türkiye

This research explores the development of effective corporate governance strategies for non-governmental organizations (NGOs) by evaluating both critical decision criteria and innovative organizational models. Based on an extensive literature review, seven governance criteria were identified: credibility and non-profit orientation, regular information flow and transparency, level of institutionalization, frequency of leadership turnover, internal and external stakeholder relations, annual budget, and ideological or religious motivation. In addition, five innovative organizational models were selected as strategic alternatives: continuous learning organization, technology-oriented policy development, income diversification, pluralistic governance, and transformational leadership. The empirical data were gathered through interviews with 16 experts from academia, civil society, and public institutions in Türkiye. To address the complexity and uncertainty of decision-making processes, a hybrid type-2 neutrosophic number (T2NN) multi-criteria decision-making methodology is introduced. The T2NN-ranking comparison and T2NN-criteria importance through intercriteria correlation methods are used to determine the weight of criteria, while T2NN-stable preference ordering towards ideal solution is utilized to rank the alternative models. Results show that the level of institutionalization is the most significant criterion, and income diversification is the most effective organizational model for improving NGO sustainability. The study not only provides practical guidance for NGO leaders but also introduces a robust methodological approach applicable to governance challenges under uncertain conditions.

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Evidence-Based Health informatics as the Foundation for the COVID-19 Response: A Joint Call for Action

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Methods of Information in Medicine 2021年第6期59卷 183-192页

作者： Luis Fernandez-Luque Andre W. Kushniruk Andrew Georgiou Arindam Basu Carolyn Petersen Charlene Ronquillo Chris Paton Christian Nøhr Craig E. Kuziemsky Dari Alhuwail Diane Skiba Elaine Huesing Elia Gabarron Elizabeth M. Borycki Farah Magrabi Kerstin Denecke Linda W. P. Peute Max Topaz Najeeb Al-Shorbaji Paulette Lacroix Romaric Marcilly Ronald Cornet Shashi B. Gogia Shinji Kobayashi Sriram Iyengar Thomas M. Deserno Tobias Mettler Vivian Vimarlund Xinxin Zhu Adhera Health Inc. Palo Alto California United States School of Health Information Science University of Victoria Victoria Canada Australian Institute of Health Innovation Macquarie University Macquarie New South Wales Australia School of Health Sciences University of Canterbury Christchurch New Zealand Division of Biomedical Statistics and Informatics Mayo Clinic Rochester Minnesota United States Daphne Cockwell School of Nursing Ryerson University Ryerson Toronto Canada Department of Information Science University of Otago Dunedin New Zealand Nuffield Department of Medicine University of Oxford Oxford United Kingdom Centre for Health Informatics and Technology Maersk McKinney Moller Institute University of Southern Denmark Denmark Office of Research Services MacEwan University Edmonton AB Canada Department of Information Science Kuwait University Kuwait Health Informatics Unit Dasman Diabetes Institute Kuwait University of Colorado Denver Colorado United States IMIA CEO Norwegian Centre for E-health Research University Hospital of North Norway Tromsø Norway Institute for Medical Informatics Bern University of Applied Sciences Bern Switzerland Medical Informatics Amsterdam UMC University of Amsterdam Amsterdam The Netherlands Columbia University Medical Center Data Science Institute Columbia University Columbia United States Amman Jordan University of Victoria Victoria Canada Univ. Lille Inserm CHU Lille ULR 2694 - METRICS: Évaluation des technologies de santé et des pratiques médicales F-59000 Lille France Society for Administration of Telemedicine and Healthcare Informatics New Delhi India National Institute of Public Health Japan The University of Arizona Arizona United States Peter L. Reichertz Institute for Medical Informatics of TU Braunschweig and Hannover Medical School Braunschweig Germany Swiss Graduate School of Public Administration University of Lausanne Lausanne Switzerland Department of Computer and Information Science (IDA)

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Short-Term Effects of a Therapeutic Diet on Biochemical Parameters in Hemodialysis Patients: A Randomized Crossover Trial

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Journal of renal nutrition : the official journal of the Council on Renal Nutrition of the National Kidney Foundation 2023年第6期33卷 731-739页

作者： Wan-Chuan Tsai Shih-Ping Hsu Yen-Ling Chiu Hon-Yen Wu Chia-Chin Luan Ju-Yeh Yang Mei-Fen Pai Cheng-Jui Lin Wan-Yu Lin Wen-Huei Sun Yu-Sen Peng Division of Nephrology Department of Internal Medicine Far Eastern Memorial Hospital New Taipei City Taiwan Center for General Education Lee-Ming Institute of Technology New Taipei City Taiwan. School of Life Science National Taiwan Normal University Taipei City Taiwan. Graduate Program in Biomedical Informatics Yuan Ze University Taoyuan City Taiwan. Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei City Taiwan Faculty of Medicine School of Medicine National Yang-Ming University Taipei City Taiwan. Dietary Department Far Eastern Memorial Hospital New Taipei City Taiwan. Division of Nephrology Department of Internal Medicine Far Eastern Memorial Hospital New Taipei City Taiwan. Division of Nephrology Department of Internal Medicine Mackay Memorial Hospital Taipei City Taiwan Department of Medicine Mackay Medical College Taipei City Taiwan Mackay Junior College of Medicine Nursing and Management Taipei City Taiwan. Institute of Epidemiology and Preventive Medicine College of Public Health National Taiwan University Taipei City Taiwan. Dietary Department Far Eastern Memorial Hospital New Taipei City Taiwan. Electronic address: 830636231@mail.femh.org.tw. Department of Applied Cosmetology Lee-Ming Institute of Technology New Taipei City Taiwan Department of Electrical Engineering Yuan Ze University Taoyuan City Taiwan. Electronic address: taan70@***.

OBJECTIVE:Although unhealthy diets exacerbate nutritional and metabolic derangements in patients with end-stage kidney disease (ESKD), how therapeutic diets that possess a variety of different dietary strategies acutely modify diverse biochemical parameters related to cardiovascular disease remains underexplored. METHODS:Thirty-three adults with end-stage kidney disease undergoing thrice-weekly hemodialysis participated in a randomized crossover trial comparing a therapeutic diet with their usual diets for 7 days, separated by a 4-week washout period. The therapeutic diet was characterized by adequate calorie and protein amounts, natural food ingredients with a low phosphorus-to-protein ratio, higher portions of plant-based food, and high fiber content. The primary outcome measure was the mean difference in the change-from-baseline intact fibroblast growth factor 23 (FGF23) level between the 2 diets. The other outcomes of interest included changes in mineral parameters, uremic toxins, and high-sensitivity C-reactive protein (hs-CRP) levels. RESULTS:Compared with the usual diet, the therapeutic diet lowered intact FGF23 levels (P = .001), decreased serum phosphate levels (P < .001), reduced intact parathyroid hormone (PTH) levels (P = .003), lowered C-terminal FGF23 levels (P = .03), increased serum calcium levels (P = .01), and tended to lower total indoxyl sulfate levels (P = .07) but had no significant effect on hs-CRP levels. Among these changes, reduction in serum phosphate level achieved in 2 days, modifications of intact PTH and calcium levels in 5 days, and reductions in intact and C-terminal FGF23 levels in 7 days of therapeutic diet intervention. CONCLUSION:Within the 1-week intervention period, the dialysis-specific therapeutic diet rapidly reversed mineral abnormalities and tended to decrease total indoxyl sulfate levels in patients undergoing hemodialysis but had no effect on inflammation. Future studies to assess the long-term effects of such therapeuti

关键词： FGF23 dialysis inflammation therapeutic diet uremic toxin

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Impact of Intention to Use to a Document Management System (Case Study Approach) 3

Impact of Intention to Use to a Document Management System (...

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3rd International Conference on Information Management and Technology, ICIMTech 2018

作者： Hartono, Sugiarto Kosala, Raymondus Raymond Supangkat, Suhono Harso Ranti, Benny Information Systems Department Computer Science Department BINUS Graduate Program-Doctor of Computer Science Jakarta11480 Indonesia Computer Science Department Bina Nusantara University BINUS Graduate Program-Doctor of Computer Science Jakarta11480 Indonesia Bandung Institute of Technology School of Electrical Engineering and Informatics Bandung Indonesia

ISBN: (纸本)9781538658215

Document management system makes user to access information anytime and anywhere. The purpose of this research is to analyze what variables have impact on the intention to use of document management system. To achieve the objectives conducted by identification problem on the research model developed from the model of Technology Acceptance Model and Unified Theory of Acceptance and Use of Technology to the use of document management system. Furthermore, the data obtained from the respondents tested outer model, inner model test, hypothesis test and to produce a comprehensive analysis will be conducted Importance Performance Analysis. This research will result in a comprehensive analysis and able to provide recommendations and solutions for improvement from the implementation DMS has been done earlier. © 2018 IEEE.

关键词： Information services

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The Multi-modality Cell Segmentation Challenge: Towards Universal Solutions

arXiv

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arXiv 2023年

作者： Ma, Jun Xie, Ronald Ayyadhury, Shamini Ge, Cheng Gupta, Anubha Gupta, Ritu Gu, Song Zhang, Yao Lee, Gihun Kim, Joonkee Lou, Wei Li, Haofeng Upschulte, Eric Dickscheid, Timo de Almeida, José Guilherme Wang, Yixin Han, Lin Yang, Xin Labagnara, Marco Gligorovski, Vojislav Scheder, Maxime Rahi, Sahand Jamal Kempster, Carly Pollitt, Alice Espinosa, Leon Mignot, Tâm Middeke, Jan Moritz Eckardt, Jan-Niklas Li, Wangkai Li, Zhaoyang Cai, Xiaochen Bai, Bizhe Greenwald, Noah F. Van Valen, David Weisbart, Erin Cimini, Beth A. Cheung, Trevor Brück, Oscar Bader, Gary D. Wang, Bo Peter Munk Cardiac Centre University Health Network TorontoON Canada Department of Laboratory Medicine and Pathobiology University of Toronto TorontoON Canada Vector Institute TorontoON Canada Department of Molecular Genetics University of Toronto TorontoON Canada Donnelly Centre University of Toronto TorontoON Canada Princess Margaret Cancer Centre University Health Network TorontoON Canada School of Medicine and Pharmacy Ocean University of China Qingdao China New Delhi India Laboratory Oncology Dr. BRA-IRCH All India Institute of Medical Sciences New Delhi India Department of Image Reconstruction Nanjing Anke Medical Technology Co. Ltd. Nanjing China Shanghai Artificial Intelligence Laboratory Shanghai China Graduate School of AI KAIST Seoul Korea Republic of Shenzhen Research Institute of Big Data Shenzhen China Shenzhen China Helmholtz AI Research Center Jülich Jülich Germany Faculty of Mathematics and Natural Sciences Institute of Computer Science Heinrich Heine University Düsseldorf Düsseldorf Germany Hinxton United Kingdom Champalimaud Foundation - Centre for the Unknown Lisbon Portugal Department of Bioengineering Stanford University Palo AltoCA United States Tandon School of Engineering New York University New YorkNY United States School of Biomedical Engineering Health Science Center Shenzhen University Shenzhen China Lausanne Switzerland School of Biological Sciences University of Reading Reading United Kingdom Laboratoire de Chimie Bactérienne CNRS Université Aix Marseille UMR Institut de Microbiologie de la Méditerranée Marseille France Department of Internal Medicine I University Hospital Dresden Technical University Dresden Dresden Germany Else Kroener Fresenius Center for Digital Health Technical University Dresden Dresden Germany Department of Automation University of Science and Technology of China Hefei China Institute of Advanced Technology University of Science and Technology of China Hefei Chi

Cell segmentation is a critical step for quantitative single-cell analysis in microscopy images. Existing cell segmentation methods are often tailored to specific modalities or require manual interventions to specify hyper-parameters in different experimental settings. Here, we present a multi-modality cell segmentation benchmark, comprising over 1500 labeled images derived from more than 50 diverse biological experiments. The top participants developed a Transformer-based deep-learning algorithm that not only exceeds existing methods but can also be applied to diverse microscopy images across imaging platforms and tissue types without manual parameter adjustments. This benchmark and the improved algorithm offer promising avenues for more accurate and versatile cell analysis in microscopy imaging. © 2023, CC BY-NC-ND.

关键词： Deep learning

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Changing life expectancy in European countries 1990–2021: a subanalysis of causes and risk factors from the Global Burden of Disease Study 2021

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The Lancet Public Health 2025年第3期10卷 e172-e188页

作者： Steel, Nicholas Bauer-Staeb, Clarissa Maria Mercedes Ford, John A. Abbafati, Cristiana Abdalla, Mohammed Altigani Abdelkader, Atef Abdi, Parsa Zuñiga, Roberto Ariel Abeldaño Abiodun, Olugbenga Olusola Abolhassani, Hassan Abu-Gharbieh, Eman Abukhadijah, Hana J. Abu-Zaid, Ahmed Addo, Isaac Yeboah Addolorato, Giovanni Adekanmbi, Victor Adetunji, Juliana Bunmi Adeyeoluwa, Temitayo Esther Agardh, Emilie E. Agyemang-Duah, Williams Ahmad, Danish Ahmed, Ayman Ahmed, Syed Anees Akinosoglou, Karolina Akkaif, Mohammed Ahmed Al Awaidy, Salah Al Hasan, Syed Mahfuz Al Zaabi, Omar Ali Mohammed Aldridge, Robert W. Algammal, Abdelazeem M. Al-Gheethi, Adel Ali Saeed Ali, Abid Ali, Mohammed Usman Ali, Syed Shujait Ali, Waad Alicandro, Gianfranco Alif, Sheikh Mohammad Al-Jumaily, Adel Allebeck, Peter Alrawashdeh, Ahmad Al-Rifai, Rami H. Alsabri, Mohammed A. Alshahrani, Najim Z. Aluh, Deborah Oyine Al-Wardat, Mohammad Al-Zyoud, Walid A. Amiri, Sohrab Anderlini, Deanna Andrei, Catalina Liliana Anil, Abhishek Anvari, Saeid Anyasodor, Anayochukwu Edward Appiah, Seth Christopher Yaw Aquilano, Michele Arabloo, Jalal Arafat, Mosab Areda, Demelash Aremu, Abdulfatai Armani, Keivan Armocida, Benedetta Ärnlöv, Johan Asaduzzaman, Muhammad Astell-Burt, Thomas Aujayeb, Avinash Ausloos, Marcel Azadnajafabad, Sina Aziz, Shahkaar Azzam, Ahmed Y. Babu, Giridhara Rathnaiah Badache, Andreea Corina Badiye, Ashish D. Bahramian, Saeed Baig, Atif Amin Baker, Jennifer L. Bansal, Hansi Bärnighausen, Till Winfried Barone, Mark Thomaz Ugliara Barrow, Amadou Barteit, Sandra Bashir, Shahid Bashiru, Hameed Akande Basso, João Diogo Bastan, Mohammad-Mahdi Basu, Sanjay Batra, Kavita Bauckneht, Matteo Baune, Bernhard T. Beghi, Massimiliano Beiranvand, Maryam Béjot, Yannick Bell, Michelle L. Bello, Olorunjuwon Omolaja Belo, Luis Beloukas, Apostolos Beneke, Alice A. Bettencourt, Paulo J.G. Bhagavathula, Akshaya Srikanth Bhala, Neeraj Bhaskar, Sonu Bisulli, Francesca Bjørge, Tone Bodunrin, Aadam Olalekan Carvajal, Alejandro Botero Bouaoud, Souad Brayne, Carol Brenner, H Department of Primary Care and Public Health University of East Anglia Norwich United Kingdom Office for Health Improvement and Disparities Department of Health and Social Care London United Kingdom Department of Legal and Economic Studies La Sapienza University Rome Italy Rome Italy Hull York Medical School University of Hull Hull United Kingdom Department of Mathematics and Sciences Ajman University Ajman United Arab Emirates Department of Medicine Memorial University St. John's NL Canada Postgraduate Department University of Sierra Sur Miahuatlan de Porfirio Diaz Mexico Yhteiskuntadatatieteen keskus (Centre for Social Data Science) Helsinki Finland Department of Internal Medicine Federal Medical Centre Abuja Nigeria Research Center for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Department of Medical Biochemistry and Biophysics Karolinska Institutet (Karolinska Institute) Stockholm Sweden Department of Clinical Sciences University of Sharjah Sharjah United Arab Emirates Department of Biopharmaceutics and Clinical Pharmacy University of Jordan Amman Jordan Medical Research Center Hamad Medical Corporation Doha Qatar Department of Biochemistry and Molecular Medicine Alfaisal University Riyadh Saudi Arabia College of Graduate Health Sciences University of Tennessee Memphis TN United States School of Medicine Sydney NSW Australia Centre for Social Research in Health University of New South Wales Sydney NSW Australia Internal Medicine and Alcohol Related Disease Unit Fondazione Policlinico Universitario A. Gemelli IRCCS Rome Italy Department of Medical and Surgical Sciences Università Cattolica di Roma (Catholic University of Rome) Rome Italy Department of Obstetrics and Gynecology University of Texas Medical Branch Galveston TX United States Department of Biochemistry Osun State University Osogbo Nigeria Department of Pharmacology and Therapeutics University of Medical Sciences Ondo Ondo Nigeria Department of Veteri

Background: Decades of steady improvements in life expectancy in Europe slowed down from around 2011, well before the COVID-19 pandemic, for reasons which remain disputed. We aimed to assess how changes in risk factors and cause-specific death rates in different European countries related to changes in life expectancy in those countries before and during the COVID-19 pandemic. Methods: We used data and methods from the Global Burden of Diseases, Injuries, and Risk Factors Study 2021 to compare changes in life expectancy at birth, causes of death, and population exposure to risk factors in 16 European Economic Area countries (Austria, Belgium, Denmark, Finland, France, Germany, Greece, Iceland, Ireland, Italy, Luxembourg, the Netherlands, Norway, Portugal, Spain, and Sweden) and the four UK nations (England, Northern Ireland, Scotland, and Wales) for three time periods: 1990–2011, 2011–19, and 2019–21. Changes in life expectancy and causes of death were estimated with an established life expectancy cause-specific decomposition method, and compared with summary exposure values of risk factors for the major causes of death influencing life expectancy. Findings: All countries showed mean annual improvements in life expectancy in both 1990–2011 (overall mean 0·23 years [95% uncertainty interval [UI] 0·23 to 0·24]) and 2011–19 (overall mean 0·15 years [0·13 to 0·16]). The rate of improvement was lower in 2011–19 than in 1990–2011 in all countries except for Norway, where the mean annual increase in life expectancy rose from 0·21 years (95% UI 0·20 to 0·22) in 1990–2011 to 0·23 years (0·21 to 0·26) in 2011–19 (difference of 0·03 years). In other countries, the difference in mean annual improvement between these periods ranged from –0·01 years in Iceland (0·19 years [95% UI 0·16 to 0·21] vs 0·18 years [0·09 to 0·26]), to –0·18 years in England (0·25 years [0·24 to 0·25] vs 0·07 years [0·06 to 0·08]). In 2019–21, there was an overall decrease in mean annual life expectancy a

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GREGoR: Accelerating Genomics for Rare Diseases

arXiv

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arXiv 2024年

作者： Dawood, Moez Heavner, Ben Wheeler, Marsha M. Ungar, Rachel A. LoTempio, Jonathan Wiel, Laurens Berger, Seth Bernstein, Jonathan A. Chong, Jessica X. Délot, Emmanuèle C. Eichler, Evan E. Gibbs, Richard A. Lupski, James R. Shojaie, Ali Talkowski, Michael E. Wagner, Alex H. Wei, Chia-Lin Wellington, Christopher Wheeler, Matthew T. Carvalho, Claudia M.B. Gifford, Casey A. May, Susanne Miller, Danny E. Rehm, Heidi L. Sedlazeck, Fritz J. Vilain, Eric O'Donnell-Luria, Anne Posey, Jennifer E. Chadwick, Lisa H. Bamshad, Michael J. Montgomery, Stephen B. Human Genome Sequencing Center Baylor College of Medicine HoustonTX United States Department of Molecular and Human Genetics Baylor College of Medicine HoustonTX United States Medical Scientist Training Program Baylor College of Medicine HoustonTX United States Department of Biostatistics University of Washington SeattleWA United States Department of Genetics School of Medicine Stanford University StanfordCA United States Department of Pathology School of Medicine Stanford University Stanford CA United States Stanford Center for Biomedical Ethics School of Medicine Stanford University Stanford CA United States Institute for Clinical and Translational Science University of California IrvineCA United States Division of Cardiovascular Medicine School of Medicine Stanford University Stanford CA United States Division of Genetics and Metabolism Children’s National Rare Disease Institute WashingtonDC United States Center for Genetic Medicine Research Children’s National Rare Disease Institute WashingtonDC United States Department of Genomics and Precision Medicine George Washington University WashingtonDC United States Department of Pediatrics School of Medicine Stanford University Stanford CA United States Department of Pediatrics Dvision of Genetic Medicine University of Washington SeattleWA United States Brotman Baty Institute for Precision Medicine University of Washington SeattleWA United States Department of Genome Sciences University of Washington SeattleWA United States Howard Hughes Medical Institute University of Washington SeattleWA United States Department of Pediatrics Baylor College of Medicine HoustonTX United States Center for Genomic Medicine Massachusetts General Hospital BostonMA United States Program in Medical and Population Genetics Broad Institute of MIT and Harvard BostonMA United States Department of Neurology Massachusetts General Hospital Harvard Medical School BostonMA United States Stanley Center for

Rare diseases are collectively common, affecting approximately one in twenty individuals worldwide. In recent years, rapid progress has been made in rare disease diagnostics due to advances in DNA sequencing, development of new computational and experimental approaches to prioritize genes and genetic variants, and increased global exchange of clinical and genetic data. However, more than half of individuals suspected to have a rare disease lack a genetic diagnosis. The Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium was initiated to study thousands of challenging rare disease cases and families and apply, standardize, and evaluate emerging genomics technologies and analytics to accelerate their adoption in clinical practice. Further, all data generated, currently representing ~7500 individuals from ~3000 families, is rapidly made available to researchers worldwide via the Genomic Data science Analysis, Visualization, and informatics Lab-space (AnVIL) to catalyze global efforts to develop approaches for genetic diagnoses in rare diseases (https://***/data). The majority of these families have undergone prior clinical genetic testing but remained unsolved, with most being exome-negative. Here, we describe the collaborative research framework, datasets, and discoveries comprising GREGoR that will provide foundational resources and substrates for the future of rare disease genomics. © 2024, CC BY.

关键词： Genome

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Big Data Governance for Building A Smart Cities

Big Data Governance for Building A Smart Cities

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International Conference on ICT For Smart Society (ICISS)

作者： Novan Zulkarnain Raymond Kosala Benny Ranti Suhono Harso Supangkat Computer Science Department BINUS Graduate Program Doctor of Computer Science Information Systems Department Bina Nusantara University Jakarta Indonesia Computer Science Department Bina Nusantara University Jakarta Indonesia Computer Science Department Universitas Indonesia Depok Indonesia School of Electrical and Informatics Engineering Institute of Technology Bandung Bandung Indonesia

There have been many studies conducted related to Smart City, IT Governance and Big Data. In this study aims to find out how the relationship between the three and how to form a framework to explain it. The methodology used is qualitative by looking for some literature on smart city framework, IT Governance framework, and a Big Data framework. From these results, an overall picture of the relationship between the three is concluded, where Big Data has a role in IT Governance. and also the relationship of IT Governance to the realization of Smart City. And the final results of this study produce a framework to explain the relationship between Smart City, IT Governance and Big Data.

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