检索结果-内蒙古大学图书馆

ANALYSIS OF A MOVABLE BOUNDARY ACCESS TECHNIQUE FOR A MULTISERVICE MULTIBEAM SATELLITE SYSTEM

INTERNATIONAL JOURNAL OF SATELLITE COMMUNICATIONS 1994年第3期12卷 299-312页

作者： BOHM, S ELHAKEEM, AK MURTHY, KMS HACHICHA, M KADOCH, M Department of Electrical and Computer Engineering Concordia University 1455 De Maisonneuve Blvd. West Montreal H3A 1M8 Canada Was born in Montreal Canada on 14 September 1966. He received the B. Eng. degree in electrical engineering from Concordia University Montreal Canada in 1989. He is at present completing the M.A.Sc. degree in electrical engineering at Concordia University. (S'75–S'79–M'79–SM'86) received the Ph.D. degree from Southern Methodist University Dallas TX in 1979. He spent the next two years working as a Visiting Professor in Egypt after which he moved to Ottawa Canada in 1982. He assumed teaching and research positions in Carleton and Manitoba Univerities and later moved to Concordia University Montreal Canada in 1983 where he is now a Professor in the Electrical and Computer Engineering Department. He has published numerous papers in IEEE and international journals in the areas of spread spectrum and networking. He is a well-known expert in these areas and serves as a consultant to many companies. His current research interests include wide-band metropolitan networks switching architectures and performance of on-board multibeam satellites acquisitionless CDMA networks code distribution and orthogonalization of CDMA signals responsive congestion control for ATM-based networks ARQ techniques and investigation of the novel SUGAR CDMA systems in fading channels. Dr. Elhakeem is a Senior Member of the Canadian Electrical Engineering Society and Armed Forces Association. He has chaired numerous technical sessions in IEEE Conferences was the Technical Program Chairman for IEEE Montech 1986 Montreal Canada. Dr. Elhakeem is the key guest editor of theIEEE Journal of Selected Areas in Communicationsfor the May June issues 1993 covering CDMA networks. Advanced Technology & Networks VISTAR Telecommunications Inc. Ottawa Ontario K1G 3J4 Canada . He is ITU's Specialist Consultant and Chief Advisor for a number of ITU/UNDP projects including VSATs Rural Networks Digital Broadc

In this paper, the performance of a new movable boundary accessing (MBA) technique for future integrated services multibeam satellite systems is studied. The multiservice environment considered includes both asynchronous and isochronous traffic consisting of video, voice, file transfer and interactive data. The movable boundary access technique proposed here will maximize the utilization of the up-link frame capacity. It is shown that the potential user population is substantially increased with the use of a moving boundary policy with minimal overhead.

关键词： MOVABLE BOUNDARY ACCESS TECHNIQUE MF-TDMA DAMA MULTIBEAM SATELLITE

来源：评论

学校读者我要写书评

暂无评论

Characterising acute and chronic care needs: insights from the Global Burden of Disease study 2019

引用

Nature communications 2025年第1期16卷 4235-4235页

作者： Cecilia Anza-Ramirez J. Jaime Miranda Benedetta Armocida Jorge César Correia Harriette Gillian Christine Van Spall David Beran Amirali Aali Kalkidan Hassen Abate Semagn Mekonnen Abate Cristiana Abbafati Mohsen Abbasi-Kangevari Zeinab Abbasi-Kangevari Zahra Aryan Sina Azadnajafabad Mohammadreza Azangou-Khyavy Seyyed-Hadi Ghamari Mohammad Keykhaei Javad Khanali Sara Momtazmanesh Fateme Montazeri Shayan Rahmani Mohammad-Mahdi Rashidi Nazila Rezaei Negar Rezaei Sahar Saeedi Moghaddam Hossein Hassanian-Moghaddam Ali-Asghar Kolahi Ali Nikoobar Hedayat Abbastabar Ahmed M. Abdel-Azeem Michael Abdelmasseh Juan Sanabria Sherief Abd-Elsalam Ahmed Abdelwahab Gholamreza Abdoli Mohammad Abdollahi Meriem Abdoun Deldar Morad Abdulah Abu Yousuf Md Abdullah Ame Mehadi Abdurehman Getachew Abebe Aidin Abedi Chirag P. Doshi Vida Abedi Hassan Abidi Richard Gyan Aboagye Hassan Abolhassani Nima Rezaei Lucas Guimarães Abreu Michael R. M. Abrigo Yonas Derso Abtew Hiwa Abubaker Ali Eman Abu-Gharbieh Hiba Jawdat Barqawi Rabih Halwani Maha Mohamed Saber-Ayad Iman M. Talaat Ahmed Abu-Zaid Manfred Mario Kokou Accrombessi Juan Manuel Acuna Denberu Eshetie Adane Tigist Demssew Adane Isaac Yeboah Addo Giovanni Addolorato Oluwafemi Atanda Adeagbo Victor Adekanmbi Miracle Ayomikun Adesina Isaac Iyinoluwa Olufadewa Olatunji O. Adetokunboh Daniel Adedayo Adeyinka Qorinah Estiningtyas Sakilah Adnani Aanuoluwapo Adeyimika Afolabi Olayinka Stephen Ilesanmi Muhammad Sohail Afzal Saira Afzal Gina Agarwal Prerna Agarwal Pradyumna Agasthi Anurag Agrawal Marcela Agudelo-Botero Adolfo Martinez-Valle Bright Opoku Ahinkorah Aqeel Ahmad Sajjad Ahmad Sohail Ahmad Tauseef Ahmad Ali Ahmadi Siamak Sabour Keivan Ahmadi Sanjay Basu Sepideh Ahmadi Ali Ahmed Shaun Wen Huey Lee Ayman Ahmed Haroon Ahmed Jivan Qasim Ahmed Gahin Abdulraheem Tayib Yahya Yahya Luai A. Ahmed Iffat Elbarazi Syed Mahboob Shah Janardhana P. Aithala Marjan Ajami Budi Aji Hossein Akbarialiabad Yibeltal Akelew Meisam Akhlaghdoust Elham Jamshidi Addis Aklilu Azene Tesfaye Melat Woldemariam Maxwell Ak CRONICAS Center of Excellence in Chronic Diseases Universidad Peruana Cayetano Heredia Lima Peru School of Medicine Universidad Peruana Cayetano Heredia Lima Peru Sydney School of Public Health Faculty of Medicine and Health University of Sydney Sydney NSW Australia Faculty of Epidemiology and Population Health London School of Hygiene & Tropical Medicine London UK Division of Tropical and Humanitarian Medicine University of Geneva Geneva Switzerland Department of Cardiovascular Endocrine-metabolic Diseases and Aging Istituto Superiore di Sanità Rome Italy Division of Endocrinology Diabetology Nutrition and Therapeutic Patient Education Department of Medicine Geneva University Hospitals Geneva Switzerland Department of Medicine and Department of Health Research Evidence and Impact McMaster University Hamilton ON Canada Research Institute of St. Joe’s Hamilton ON Canada Population Health Research Institute Hamilton Canada Geneva University Hospitals Geneva Switzerland Faculty of Medicine Mashhad University of Medical Sciences Mashhad Iran Department of Nutrition and Dietetics Jimma University Jimma Ethiopia Anesthesiology Department Dilla University Addis Ababa Ethiopia Department of Juridical and Economic Studies La Sapienza University Rome Italy Non-Communicable Diseases Research Center Tehran University of Medical Sciences Tehran Iran Social Determinants of Health Research Center Shahid Beheshti University of Medical Sciences Tehran Iran Brigham and Women’s Hospital Harvard University Boston MA USA Students’ Scientific Research Center (SSRC) Tehran University of Medical Sciences Tehran Iran School of Medicine Tehran University of Medical Sciences Tehran Iran School of Medicine Shahid Beheshti University of Medical Sciences Tehran Iran Endocrinology and Metabolism Research Institute Tehran University of Medical Sciences Tehran Iran Chapter of Addiction Medicine University of Sydney Sydney NSW Australia Advanced Diagnostic and Intervent

Chronic care manages long-term, progressive conditions, while acute care addresses short-term conditions. Chronic conditions increasingly strain health systems, which are often unprepared for these demands. This study examines the burden of conditions requiring acute versus chronic care, including sequelae. Conditions and sequelae from the Global Burden of Diseases study 2019 were classified into acute or chronic care categories. Data were analysed by age, sex, and socio-demographic index, presenting total numbers and contributions to burden metrics such as Disability-Adjusted Life Years (DALYs), Years Lived with Disability (YLD), and Years of Life Lost (YLL). Approximately 68% of DALYs were attributed to chronic care, while 27% were due to acute care. Chronic care needs increased with age, representing 86% of YLDs and 71% of YLLs, and accounting for 93% of YLDs from sequelae. These findings highlight that chronic care needs far exceed acute care needs globally, necessitating health systems to adapt accordingly. © 2025. The Author(s).

关键词：

来源：评论

学校读者我要写书评

暂无评论

26th Annual Computational Neuroscience Meeting (CNS*2017) of the Organization for Computational Neuroscience Antwerp, Belgium, July 15-20, 2017

引用

BMC NEUROSCIENCE 2017年第SUPPL 1期18卷 59-59页

作者： [Anonymous] Indiana University Purdue University Indianapolis Indianapolis IN 46032 USA Stark Neurosciences Research Institute Indiana University School of Medicine Indianapolis IN 46032 USA Department of Mathematics East Carolina University Greenville NC 27858 USA Jülich Supercomputing Centre Forschungszentrum Jülich 52425 Jülich Germany Future Systems Swiss National Supercomputing Centre 8092 Zurich Switzerland User Engagement and Support Swiss National Supercomputing Centre 6900 Lugano Switzerland Institut de Neurosciences des Systèmes Aix Marseille Univ 13005 Marseille France Simulation Lab Neuroscience Forschungszentrum Jülich Jülich Germany Department of Experimental Psychology Ghent University 9000 Ghent Belgium Donders Center for Cognitive Neuroimaging Radboud University 6525HR Nijmegen The Netherlands Department of Electrical Computer and Energy Engineering University of Colorado Boulder CO 80309 USA Department of Neurosurgery Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Otolaryngology Johns Hopkins School of Medicine Baltimore MD 21287 USA INSERM U968 Paris France Sorbonne Universités UPMC University Paris 06 UMR_S 968 Institut de la Vision Paris France CNRS UMR_7210 Paris France Department of Computer Architecture and Technology University of Granada (CITIC) Granada Spain Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS Institut de la Vision Paris France Department of Adaptive Machine Systems Osaka University Osaka Japan Department of Computer Science University of Cergy-Pontoise Cergy-Pontoise France Department of Physics and Astronomy College of Charleston Charleston SC 29424 USA School of Physics Faculty of Science University of Sydney Sydney NSW 2006 Australia Center of Excellence for Integrative Brain Function Australian Research Council Sydney Australia Max Planck Institute for Human Cognitive and Brain Sciences Saxony Lei

来源：评论

学校读者我要写书评

暂无评论

INTRODUCTION

引用

Bulletin of the American Meteorological Society 2024年第8期105卷 S1-S11页

作者： Boyer, T. Blunden, J. Dunn, R.J.H. NOAA/NESDIS National Centers for Environmental Information Silver Spring Maryland NOAA/NESDIS National Centers for Environmental Information Asheville North Carolina Met Office Hadley Centre Exeter United Kingdom European Centre for Medium-Range Weather Forecasts Reading United Kingdom University of Maryland College Park Maryland Scripps Institution of Oceanography University of California San Diego La Jolla California NOAA/NWS National Centers for Environmental Prediction Climate Prediction Center College Park Maryland Brandenburg University of Technology (BTU) Cottbus-Senftenberg Germany Servicio Meteorológico Nacional Buenos Aires Argentina NOAA/OAR Physical Sciences Laboratory Boulder Colorado European Centre for Medium-Range Weather Forecasts Bonn Germany Center for Geophysical Research and School of Physics University of Costa Rica San José Costa Rica Department of Meteorology and National Centre for Earth Observation University of Reading Reading United Kingdom Centro Nacional de Monitoramento e Alertas de Desastres Naturais CEMADEN São Paulo Brazil Université Grenoble Alpes Institut des Géosciences de l’Environnement IRD CNRS Grenoble INP Grenoble France Hampton University Hampton Virginia Seychelles Meteorological Authority Mahe Seychelles Section for Glaciers Ice and Snow Norwegian Water Resources and Energy Directorate Oslo Norway National Research Institute for Agriculture Food and Environment (INRAE) CARRTEL Université Savoie Mont Blanc Thonon les Bains France Graduate School of Agriculture Osaka Metropolitan University Sakai Japan Science Faculty Universidad Nacional de Colombia Bogotá Colombia University of Bremen Bremen Germany NOAA Global Monitoring Laboratory Boulder Colorado Servicio Nacional de Meteorología e Hidrología del Perú Lima Perú Centro de Investigaciones sobre Desertificación – Spanish National Research Council (CSIC-UV-GVA) Valencia Spain Hydro-Climate Extremes Lab (H-CEL) Ghent University Ghent Belgium Department o

In 2023, La Niña conditions that generally prevailed in the eastern Pacific Ocean from mid-2020 into early 2023 gave way to a strong El Niño by October. Atmospheric concentrations of Earth’s major greenhouse gases—carbon dioxide, methane, and nitrous oxide—all increased to record-high levels. The annual global average carbon dioxide concentration in the atmosphere rose to 419.3±0.1 ppm, which is 50% greater than the pre-industrial level. The growth from 2022 to 2023 was 2.8 ppm, the fourth highest in the record since the 1960s. The combined short-term effects of El Niño and the long-term effects of increasing levels of heat-trapping gases in the atmosphere contributed to new records for many essential climate variables reported here. The annual global temperature across land and oceans was the highest in records dating as far back as 1850, with the last seven months (June–December) having each been record warm. Over land, the globally averaged temperature was also record high. Dozens of countries reported record or near-record warmth for the year, including China and continental Europe as a whole (warmest on record), India and Russia (second warmest), and Canada (third warmest). Intense and widespread heatwaves were reported around the world. In Vietnam, an all-time national maximum temperature record of 44.2°C was observed at Tuong Duong on 7 May, surpassing the previous record of 43.4°C at Huong Khe on 20 April 2019. In Brazil, the air temperature reached 44.8°C in Araçuaí in Minas Gerais on 20 November, potentially a new national record and 12.8°C above normal. The effect of rising temperatures was apparent in the cryosphere, where snow cover extent by June 2023 was the smallest in the 56-year record for North America and seventh smallest for the Northern Hemisphere overall. Heatwaves contributed to the greatest average mass balance loss for Alpine glaciers around the world since the start of the record in 1970. Due to rapid volume loss beginning in 2021, St. A

关键词：

来源：评论

学校读者我要写书评

暂无评论

Hearing loss prevalence and years lived with disability, 1990-2019: Findings from the Global Burden of Disease study 2019

引用

The Lancet 2021年第10278期397卷 996-1009页

作者： Haile, Lydia M. Kamenov, Kaloyan Briant, Paul Svitil Orji, Aislyn U. Steinmetz, Jaimie D. Abdoli, Amir Abdollahi, Mohammad Abu-Gharbieh, Eman Afshin, Ashkan Ahmed, Haroon Rashid, Tarik Ahmed Akalu, Yonas Alahdab, Fares Alanezi, Fahad Mashhour Alanzi, Turki M. Al Hamad, Hanadi Ali, Liaqat Alipour, Vahid Al-Raddadi, Rajaa M. Amu, Hubert Arabloo, Jalal Arab-Zozani, Morteza Arulappan, Judie Ashbaugh, Charlie Atnafu, Desta Debalkie Babar, Zaheer-Ud-Din Baig, Atif Amin Banik, Palash Chandra Bärnighausen, Till Winfried Barrow, Amadou Bender, Rose G. Bhagavathula, Akshaya Srikanth Bhardwaj, Nikha Bhardwaj, Pankaj Bibi, Sadia Bijani, Ali Burkart, Katrin Cederroth, Christopher R. Charan, Jaykaran Choudhari, Sonali Gajanan Chu, Dinh-Toi Couto, Rosa A.S. Dagnew, Amare Belachew Dagnew, Baye Dahlawi, Saad M.A. Dai, Xiaochen Dandona, Lalit Dandona, Rakhi Desalew, Assefa Dhamnetiya, Deepak Dhimal, Mandira Lamichhane Dhimal, Meghnath Doyle, Kerrie E. Duncan, Bruce B. Ekholuenetale, Michael Filip, Irina Fischer, Florian Franklin, Richard Charles Gaidhane, Abhay Motiramji Gaidhane, Shilpa Gallus, Silvano Ghamari, Farhad Ghashghaee, Ahmad Ghozali, Ghozali Gilani, Syed Amir Glǎvan, Ionela-Roxana Golechha, Mahaveer Goulart, Barbara Niegia Garcia Gupta, Veer Bala Gupta, Vivek Kumar Hamidi, Samer Hammond, Billy Randall Hay, Simon I. Hayat, Khezar Heidari, Golnaz Hoffman, Howard J. Hopf, Kathleen Pillsbury Hosseinzadeh, Mehdi Househ, Mowafa Hussain, Rabia Hwang, Bing-Fang Iavicoli, Ivo Ibitoye, Segun Emmanuel Ilesanmi, Olayinka Stephen Irvani, Seyed Sina Naghibi Islam, Sheikh Mohammed Shariful Iwagami, Masao Jacob, Louis Jayapal, Sathish Kumar Jha, Ravi Prakash Jonas, Jost B. Kalhor, Rohollah Al-Salihi, Nawzad Kameran Kandel, Himal Kasa, Ayele Semachew Kayode, Gbenga A. Khalilov, Rovshan Khan, Ejaz Ahmad Khatib, Mahalaqua Nazli Kosen, Soewarta Koyanagi, Ai Kumar, G. Anil Landires, Ivan Lasrado, Savita Lim, Stephen S. Liu, Xuefeng Lobo, Stany W. Lugo, Alessandra Makki, Alaa Mendoza, Walter Mersha, Amanual Getnet Mihretie, Kebadnew Mulatu Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Noncommunicable Diseases World Health Organization (WHO) Geneva Switzerland Department of Parasitology and Mycology Jahrom University of Medical Sciences Jahrom Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran University of Medical Sciences Tehran Iran School of Pharmacy Tehran University of Medical Sciences Tehran Iran Clinical Sciences Department University of Sharjah Sharjah United Arab Emirates Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Department of Biosciences COMSATS Institute of Information Technology Islamabad Pakistan Department of Computer Science and Engineering University of Kurdistan Hewler Erbil Iraq Department of Medical Physiology University of Gondar Gondar Ethiopia Mayo Evidence-based Practice Center Mayo Clinic Foundation for Medical Education and Research Rochester MN United States Imam Abdulrahman Bin Faisal University Dammam Saudi Arabia Health Information Management and Technology Department Dammam Saudi Arabia Geriatric and Long Term Care Department Hamad Medical Corporation Doha Qatar Rumailah Hospital Hamad Medical Corporation Doha Qatar Department of Biological Sciences National University of Medical Sciences (NUMS) Rawalpindi Pakistan Health Management and Economics Research Center Tehran Iran Department of Community Medicine King Abdulaziz University Jeddah Saudi Arabia Department of Population and Behavioural Sciences University of Health and Allied Sciences Ho Ghana Social Determinants of Health Research Center Birjand University of Medical Sciences Birjand Iran Department of Maternal and Child Health Sultan Qaboos University Muscat Oman Department of Health System and Health Economics Bahir Dar University Bahir Dar Ethiopia Department of Pharmacy University of Huddersfield Huddersfield United Kingdom Unit of Biochemistry Universiti

Background: Hearing loss affects access to spoken language, which can affect cognition and development, and can negatively affect social wellbeing. We present updated estimates from the Global Burden of Disease (GBD) study on the prevalence of hearing loss in 2019, as well as the condition's associated disability. Methods: We did systematic reviews of population-representative surveys on hearing loss prevalence from 1990 to 2019. We fitted nested meta-regression models for severity-specific prevalence, accounting for hearing aid coverage, cause, and the presence of tinnitus. We also forecasted the prevalence of hearing loss until 2050. Findings: An estimated 1·57 billion (95% uncertainty interval 1·51–1·64) people globally had hearing loss in 2019, accounting for one in five people (20·3% [19·5–21·1]). Of these, 403·3 million (357·3–449·5) people had hearing loss that was moderate or higher in severity after adjusting for hearing aid use, and 430·4 million (381·7–479·6) without adjustment. The largest number of people with moderate-to-complete hearing loss resided in the Western Pacific region (127·1 million people [112·3–142·6]). Of all people with a hearing impairment, 62·1% (60·2–63·9) were older than 50 years. The Healthcare Access and Quality (HAQ) Index explained 65·8% of the variation in national age-standardised rates of years lived with disability, because countries with a low HAQ Index had higher rates of years lived with disability. By 2050, a projected 2·45 billion (2·35–2·56) people will have hearing loss, a 56·1% (47·3–65·2) increase from 2019, despite stable age-standardised prevalence. Interpretation: As populations age, the number of people with hearing loss will increase. Interventions such as childhood screening, hearing aids, effective management of otitis media and meningitis, and cochlear implants have the potential to ameliorate this burden. Because the burden of moderate-to-complete hearing loss is concentrated in countries with low health-ca

关键词：

来源：评论

学校读者我要写书评

暂无评论

Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

引用

Nature Communications 2025年第1期16卷 1-18页

作者： Maria Zanti Denise G. O’Mahony Kristia Yiangou Kyriaki Michailidou Michael T. Parsons Amanda B. Spurdle Leila Dorling Joe Dennis Marc Naven Antonis C. Antoniou Manjeet K. Bolla Qin Wang Douglas F. Easton Nicholas J. Boddicker Wenan Chen Chunling Hu Steven N. Hart Fergus J. Couch Thomas U. Ahearn Jonine D. Figueroa Montserrat García-Closas Christine B. Ambrosone Song Yao Irene L. Andrulis Gord Glendon Paul L. Auer Caroline Baynes Don M. Conroy Alison M. Dunning Craig Luccarini Clara Bodelon James M. Hodge Alpa V. Patel Lauren R. Teras Natalia V. Bogdanova Stig E. Bojesen Kristen D. Brantley Nicola J. Camp Archie Campbell Jose E. Castelao Melissa H. Cessna Jenny Chang-Claude Fei Chen Christopher A. Haiman Georgia Chenevix-Trench Kamila Czene Arcangela De Nicolo Susan M. Domchek Katherine L. Nathanson Thilo Dörk A. Heather Eliassen D. Gareth Evans Peter A. Fasching Henrik Flyger Manuela Gago-Dominguez Anna González-Neira Rocio Nuñez-Torres Felix Grassmann Andreas Hadjisavvas Mihalis I. Panayiotidis Ute Hamann Muhammad U. Rashid Diana Torres Mikael B. A. Hartman Weang-Kee Ho Reiner Hoppe Sacha J. Howell Anna Jakubowska Elza K. Khusnutdinova Yon-Dschun Ko Peter Kraft Vessela N. Kristensen James V. Lacey Jingmei Li Geok Hoon Lim Veronique Kiak-Mien Tan Sara Lindström Artitaya Lophatananon Kenneth Muir Arto Mannermaa Maria Elena Martinez Dimitrios Mavroudis Roger L. Milne Melissa C. Southey Nadia Obi Janet E. Olson Celine M. Vachon Julie R. Palmer Gary R. Zirpoli Paul D. P. Pharoah Eric C. Polley Kathryn J. Ruddy Siddhartha Yadav Emmanouil Saloustros Elinor J. Sawyer Marjanka K. Schmidt Soo Hwang Teo Amy Trentham-Dietz Thérèse Truong Jeffrey N. Weitzel Melissa S. Cline Peter Devilee Sean V. Tavtigian David E. Goldgar Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus Department of Medical Genetics Oslo University Hospital Oslo Norway Population Health Program QIMR Berghofer Medical Research Institute Brisbane Queensland Australia Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge UK Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge UK Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN USA Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN USA Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD USA Usher Institute of Population Health Sciences and Informatics The University of Edinburgh Edinburgh UK Cancer Research UK Edinburgh Centre The University of Edinburgh Edinburgh UK Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY USA Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI USA Department of Population Science American Cancer Society Atlanta GA USA Radiation Oncology Research Unit Hannover Medical School Hannover Germany Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Internal Medicine and Hu

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data ofBRCA1andBRCA2from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207BRCA1andBRCA2variants, with 6909 being coding, covering 23.4% ofBRCA1andBRCA2VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants; exhibiting 99.1% sensitivity and 95.3% specificity forBRCA1and 93.3% sensitivity and 86.6% specificity forBRCA2. This approach provides case-control evidence for 787 unclassified variants; these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease study 2019

引用

The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

关键词：

来源：评论

学校读者我要写书评

暂无评论

Proceedings of the 8th Annual Conference on the Science of Dissemination and Implementation : Washington, DC, USA. 14-15 December 2015

引用

Implementation science : IS 2016年第2期11 Suppl 2卷 100页

作者： Chambers, David Simpson, Lisa Hill-Briggs, Felicia Neta, Gila Vinson, Cynthia Beidas, Rinad Marcus, Steven Aarons, Gregory Hoagwood, Kimberly Schoenwald, Sonja Evans, Arthur Hurford, Matthew Rubin, Ronnie Hadley, Trevor Barg, Frances Walsh, Lucia Adams, Danielle Mandell, David Martin, Lindsey Mignogna, Joseph Mott, Juliette Hundt, Natalie Kauth, Michael Kunik, Mark Naik, Aanand Cully, Jeffrey McGuire, Alan White, Dominique Bartholomew, Tom McGrew, John Luther, Lauren Rollins, Angie Salyers, Michelle Cooper, Brittany Funaiole, Angie Richards, Julie Lee, Amy Lapham, Gwen Caldeiro, Ryan Lozano, Paula Gildred, Tory Achtmeyer, Carol Ludman, Evette Addis, Megan Marx, Larry Bradley, Katharine VanDeinse, Tonya Wilson, Amy Blank Stacey, Burgin Powell, Byron Bunger, Alicia Cuddeback, Gary Barnett, Miya Stadnick, Nicole Brookman-Frazee, Lauren Lau, Anna Dorsey, Shannon Pullmann, Michael Mitchell, Shannon Schwartz, Robert Kirk, Arethusa Dusek, Kristi Oros, Marla Hosler, Colleen Gryczynski, Jan Barbosa, Carolina Dunlap, Laura Lounsbury, David O’Grady, Kevin Brown, Barry Damschroder, Laura Waltz, Thomas Ritchie, Mona Atkins, David Imel, Zac E. Xiao, Bo Can, Doğan Georgiou, Panayiotis Narayanan, Shrikanth Berkel, Cady Gallo, Carlos Sandler, Irwin Brown, C. Hendricks Wolchik, Sharlene Mauricio, Anne Marie Mehrotra, Sanjay Chandurkar, Dharmendra Bora, Siddhartha Das, Arup Tripathi, Anand Saggurti, Niranjan Raj, Anita Hughes, Eric Jacobs, Brian Kirkendall, Eric Loeb, Danielle Trinkley, Katy Yang, Michael Sprowell, Andrew Nease, Donald Lyon, Aaron Lewis, Cara Boyd, Meredith Melvin, Abigail Nicodimos, Semret Liu, Freda Jungbluth, Nathanial Flynn, Allen Landis-Lewis, Zach Sales, Anne Baloh, Jure Ward, Marcia Zhu, Xi Bennett, Ian Unutzer, Jurgen Mao, Johnny Proctor, Enola Vredevoogd, Mindy Chan, Ya-Fen Williams, Nathaniel Green, Phillip Bernstein, Steven Rosner, June-Marie DeWitt, Michelle Tetrault, Jeanette Dziura, James Hsiao, Allen Sussman, Scott O’Connor, Patrick Toll, Benjamin Jones, Michael Gassaway, Julie Tobin, Jonathan Zatzic Division of Cancer Control and Population Sciences National Cancer Institute National Institutes of Health Rockville USA AcademyHealth Washington USA Department of Medicine and Welch Center for Prevention Epidemiology and Clinical Research Johns Hopkins Medical Institutions Baltimore USA Psychiatry University of Pennsylvania Philadelphia USA Family Medicine and Community Health University of Pennsylvania Philadelphia USA School of Social Policy and Practice University of Pennsylvania Philadelphia USA Psychiatry UC San Diego La Jolla USA Child & Adolescent Psychiatry The Child Study Center at NYU Langone Medical Center New York NY New York USA Psychiatry and Behavioral Sciences MUSC Charleston USA DBHIDS City of Philadelphia Philadelphia USA CBH City of Philadelphia Philadelphia USA Psychiatry University of Pennsylvania Perelman School of Medicine Philadelphia USA Health Services Research & Development Department of Veterans Affairs & Baylor College of Medicine Houston USA Treatment Core Department of Veterans Affairs Waco USA National Center for PTSD Executive Division Department of Veterans Affairs White River Junction USA HSR&D HSR&D Center for Health Information and Communication Roudebush VA Medical Center Indianapolis USA Psychology Indiana University Purdue University Indianapolis Indianapolis USA Department of Psychiatric Rehabilitation and Counseling Rutgers University Newark USA Health Services Research & Development Richard L. Roudebush VAMC Indianapolis USA IUPUI Department of Psychology ACT Center of Indiana Indianapolis USA Human Development Washington State University Pullman USA Prevention Science Washington State University Pullman USA Group Health Research Institute Group Health Seattle USA Behavioral Health Services Group Health Seattle USA Preventive Care Group Health Seattle USA Health Services Research & Development Primary and Specialty Medical Care Service VA Puget Sound Seattle USA School of Social Work Un

A1 Introduction to the 8th Annual Conference on the Science of Dissemination and Implementation: Optimizing Personal and Population Health David Chambers, Lisa Simpson D1 Discussion forum: Population health D&I research Felicia Hill-Briggs D2 Discussion forum: Global health D&I research Gila Neta, Cynthia Vinson D3 Discussion forum: Precision medicine and D&I research David Chambers S1 Predictors of community therapists’ use of therapy techniques in a large public mental health system Rinad Beidas, Steven Marcus, Gregory Aarons, Kimberly Hoagwood, Sonja Schoenwald, Arthur Evans, Matthew Hurford, Ronnie Rubin, Trevor Hadley, Frances Barg, Lucia Walsh, Danielle Adams, David Mandell S2 Implementing brief cognitive behavioral therapy (CBT) in primary care: Clinicians' experiences from the field Lindsey Martin, Joseph Mignogna, Juliette Mott, Natalie Hundt, Michael Kauth, Mark Kunik, Aanand Naik, Jeffrey Cully S3 Clinician competence: Natural variation, factors affecting, and effect on patient outcomes Alan McGuire, Dominique White, Tom Bartholomew, John McGrew, Lauren Luther, Angie Rollins, Michelle Salyers S4 Exploring the multifaceted nature of sustainability in community-based prevention: A mixed-method approach Brittany Cooper, Angie Funaiole S5 Theory informed behavioral health integration in primary care: Mixed methods evaluation of the implementation of routine depression and alcohol screening and assessment Julie Richards, Amy Lee, Gwen Lapham, Ryan Caldeiro, Paula Lozano, Tory Gildred, Carol Achtmeyer, Evette Ludman, Megan Addis, Larry Marx, Katharine Bradley S6 Enhancing the evidence for specialty mental health probation through a hybrid efficacy and implementation study Tonya VanDeinse, Amy Blank Wilson, Burgin Stacey, Byron Powell, Alicia Bunger, Gary Cuddeback S7 Personalizing evidence-based child mental health care within a fiscally mandated policy reform Miya Barnett, Nicole Stadnick, Lauren Brookman-Frazee, Anna Lau S8 Leveraging an existing

关键词： Veteran Affair Motivational Interview Qualitative Comparative Analysis Community That Care Supplemental Nutrition Assistance program

来源：评论

学校读者我要写书评

暂无评论

Proceedings from the 9th annual conference on the science of dissemination and implementation: Washington, DC, USA. 14-15 December 2016

引用

Implement Sci 2017年第SUPPL 1期12卷 48-48页

作者： David Chambers Lisa Simpson Gila Neta Ulrica von Thiele Schwarz Antoinette Percy-Laurry Gregory A. Aarons Ross Brownson Amanda Vogel Shannon Wiltsey Stirman Kenneth Sherr Rachel Sturke Wynne E. Norton Allyson Varley Cynthia Vinson Lisa Klesges Suzanne Heurtin-Roberts M. Rashad Massoud Leighann Kimble Arne Beck Claire Neely Jennifer Boggs Carmel Nichols Wen Wan Erin Staab Neda Laiteerapong Nathalie Moise Ravi Shah Susan Essock Margaret Handley Amy Jones Jay Carruthers Karina Davidson Lauren Peccoralo Lloyd Sederer Todd Molfenter Ashley Scudder Sarah Taber-Thomas Kristen Schaffner Amy Herschell Eva Woodward Jeffery Pitcock Mona Ritchie JoAnn Kirchner Julia E. Moore Sobia Khan Shusmita Rashid Jamie Park Melissa Courvoisier Sharon Straus Daniel Blonigen Allison Rodriguez Luisa Manfredi Andrea Nevedal Joel Rosenthal David Smelson Christine Timko Nicole Stadnick Jennifer Regan Miya Barnett Anna Lau Lauren Brookman-Frazee Erick Guerrero Karissa Fenwick Yinfei Kong Gregory Aarons Rebecca Lengnick-Hall Benjamin Henwood Nina Sayer Craig Rosen Robert Orazem Brandy Smith Lindsey Zimmerman David Lounsbury Rachel Kimerling Jodie A. Trafton Steven Lindley Rahul Bhargava Hal Roberts Laura Gibson Gabriel J. Escobar Vincent Liu Benjamin Turk Arona Ragins Patricia Kipnis Ashley Ketterer Gruszkowski Michael W. Kennedy Emily Rentschler Drobek Lior Turgeman Aleksandra Sasha Milicevic Terrence L. Hubert Larissa Myaskovsky Youxu C. Tjader Robert J. Monte Kathryn G. Sapnas Edmond Ramly Diane R Lauver Christie M Bartels Shereef Elnahal Andrea Ippolito Hillary Peabody Carolyn Clancy Randall Cebul Thomas Love Douglas Einstadter Shari Bolen Brook Watts Vera Yakovchenko Angela Park William Lukesh Donald R. Miller David Thornton Mari-Lynn Drainoni Allen L. Gifford Shawna Smith Julia Kyle Mark S Bauer Daniel Eisenberg Celeste Liebrecht Michelle Barbaresso Amy Kilbourne Elyse Park Giselle Perez Jamie Ostroff Sarah Greene Michael Parchman Brian Austin Eric Larson Stefanie Ferreri Chris Shea Megan Smith Kea Turner Jennifer Bacci Kyle Bigham Geoffr Division of Cancer Control and Population Sciences National Cancer Institute Rockville MD 20850 USA AcademyHealth Washington DC 20009 USA Department of Learning Informatics Management and Ethics Karolinska Institutet Stockholm 17177 Sweden Department of Psychiatry University of California San Diego San Diego CA 92093 USA George Warren Brown School of Social Work Washington University in St. Louis St. Louis MO 63130 USA Center for Global Health National Cancer Institute Rockville MD 20850 USA Dissemination and Training Division VA National Center for PTSD Palo Alto CA 94305 USA Department of Global Health University of Washington Seattle WA 98105 USA Center for Global Health Studies Fogarty International Center National Institutes of Health Bethesda MD 20912 USA School of Public Health University of Alabama at Birmingham Birmingham AL 35243 USA School of Public Health University of Memphis Memphis TN 38152 USA USAID Applying Science to Strengthen and Improve Systems (ASSIST) Project Bethesda Maryland 20814 USA Institute for Health Research Kaiser Permanente Denver CO 80231 USA ICSI Institute for Clinical Systems Improvement Bloomington MN 55425 USA Medicine University of Chicago Chicago IL 60637 USA Medicine Columbia University Medical Center New York NY 10032 USA Psychiatry Columbia University New York NY 10032 USA General Internal Medicine Epidemiology and Biostatistics University of California San Francisco San Francisco CA 94110 USA New York State Office of Mental Health New York NY 10001 USA Medicine Icahn School of Medicine at Mount Sinai New York NY 10029 USA Center for Health Enhancement System Studies University of Wisconsin Madison WI 53706 USA Department of Psychiatry University of Pittsburgh Pittsburgh PA 15213 USA Psychology University at Buffalo Buffalo NY 14260 USA Department of Psychology West Virginia University Morgantown WV 26506 USA MIRECC VA North Little Rock AR 72114 USA QUERI for Team-Based Behavioral Health Centr

来源：评论

学校读者我要写书评

暂无评论

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

引用

Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

关键词：

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：