检索结果-内蒙古大学图书馆

arXiv 2025年

作者： Kim, Junmo Lee, Namkyeong Kim, Jiwon Kim, Kwangsoo Interdisciplinary Program in Bioengineering Seoul National University Korea Republic of Dept. of Industrial and Systems Engineering KAIST Korea Republic of Interdisciplinary Program of Medical Informatics Seoul National University Korea Republic of Dept. of Transdisciplinary Medicine ICMIT Seoul National University Hospital Korea Republic of Center for Data Science Healthcare AI Research Institute Seoul National University Hospital Korea Republic of Dept. of Medicine College of Medicine Seoul National University Korea Republic of

Electronic health record (EHR) foundation models have been an area ripe for exploration with their improved performance in various medical tasks. Despite the rapid advances, there exists a fundamental limitation: Processing unseen medical codes out of the vocabulary. This problem limits the generality of EHR foundation models and the integration of models trained with different vocabularies. To deal with this problem, we propose MedRep for EHR foundation models based on the observational medical outcome partnership (OMOP) common data model (CDM), providing the integrated medical concept representations and the basic data augmentation strategy for patient trajectories. For concept representation learning, we enrich the information of each concept with a minimal definition through large language model (LLM) prompts and enhance the text-based representations through graph ontology of OMOP vocabulary. Trajectory augmentation randomly replaces selected concepts with other similar concepts that have closely related representations to let the model practice with the concepts out-of-vocabulary. Finally, we demonstrate that EHR foundation models trained with MedRep better maintain the prediction performance in external datasets. Our code implementation is publicly available at https://***/kicarussays/MedRep. Copyright © 2025, The Authors. All rights reserved.

关键词： Electronic health record

来源：评论

学校读者我要写书评

暂无评论

Imputation of missing values for generating typical meteorological year (TMY) with data decomposition and recurrent neural networks

引用

IOP Conference Series: Earth and Environmental science 2022年第1期1007卷

作者： K Chreng H S Lee R P Pradana T Q Trong I D G Arya Putra H Nimiya Transdisciplinary Science and Engineering Program Graduate School of Advanced Science and Engineering Hiroshima University 1-5-1 Kagamiyama Higashi-Hiroshima Hiroshima 739-8529 Japan Division of Planning and Technique Electricité du Cambodge Phnom Penh Cambodia Center for Research and Development Indonesian Agency for Meteorology Climatology and Geophysics (BMKG) Jakarta Indonesia Graduate School of Science and Engineering Kagoshima University Kagoshima Japan

Typical meteorological year (TMY) for a specific location is critical information when designing low-carbon and energy-saving buildings. However, in developing countries, long-term observations of weather are now readily available and even mixed with missing values. In this study, a nonlinear autoregressive (NAR) recurrent neural network model in combination with improved complete ensemble empirical mode decomposition with adaptive noise (ICEEMDAN) method is demonstrated for treating the missing values in observed daily average air temperature at Bogor City in Indonesia. The prediction results for missing values indicate that the ICEEMDAN-NAR hybrid model performs very well with high accuracy when compared with the observed in the validation and model comparison phases. Particularly, the relatively lower frequency oscillation modes in observed data can be predicted well. Thus, this method can be used for relatively medium- and long-term prediction of missing values with respect to the given data/input period. critical to consider cities and buildings from the eyes of older people in society.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Phase-change metal ink with pH-controlled chemical sintering for versatile and scalable fabrication of variable stiffness electronics

引用

science Advances 2025年第22期11卷 eadv4921页

作者： Simok Lee Gun-Hee Lee Inho Kang Woojin Jeon Semin Kim Yejin Ahn Choong Yeon Kim Do A Kwon Michael D. Dickey Steve Park Seongjun Park Jae-Woong Jeong School of Electrical Engineering Korea Advanced Institute of Science and Technology (KAIST) 291 Daehak-ro Yuseong-gu Daejeon 34141 Republic of Korea. Medical Research Center Seoul National University Seoul 03080 Republic of Korea. Departments of Cogno-Mechatronics Engineering and Optics and Mechatronics Engineering Pusan National University Busan 46241 Republic of Korea. Graduate School of Semiconductor Technology Korea Advanced Institute of Science and Technology (KAIST) 291 Daehak-ro Yuseong-gu Daejeon 34141 Republic of Korea. KAIST Information and Electronics Research Institute Daejeon 34141 Republic of Korea. Research Laboratory of Electronics Massachusetts Institute of Technology (MIT) Cambridge MA 02139 USA. Department of Mechanical Engineering Massachusetts Institute of Technology (MIT) Cambridge MA 02139 USA. Department of Chemical and Biomolecular Engineering North Carolina State University (NCSU) Raleigh NC 27606 USA. Department of Materials Science and Engineering Korea Advanced Institute of Science and Technology (KAIST) 291 Daehak-ro Yuseong-gu Daejeon 34141 Republic of Korea. KAIST Institute for NanoCentury Daejeon 34141 Republic of Korea. Department of Biomedical Sciences College of Medicine Seoul National University Seoul 03080 Republic of Korea. School of Transdisciplinary Innovations Seoul National University Seoul 03080 Republic of Korea. Interdisciplinary Program in Bioengineering College of Engineering Seoul National University Seoul 08826 Republic of Korea. Department of Transdisciplinary Medicine Seoul National University Hospital Seoul 03080 Republic of Korea. KAIST Institute for Health Science and Technology Daejeon 34141 Republic of Korea.

Variable stiffness electronics represent the forefront of adaptive technology, integrating rigid and soft electronics in a single system through dynamic mechanical modulation. While gallium’s high modulus tuning ratio and rapid phase transitions make it ideal for transformative electronic systems (TES), its liquid-state instability, high surface tension, and unintended phase transitions during processing pose substantial challenges. Here, we introduce STiffness-Adjustable temperature-Responsive ink (STAR ink), a chemically sinterable gallium composite electronic ink designed to overcome these obstacles. STAR ink enables high-resolution (~50 micrometers) circuit patterning, large-scale batch fabrication, and three-dimensional structure coating at room temperature. Through pH-controlled chemical sintering, STAR ink–based TES exhibits exceptional mechanical tunability (tuning ratio: 1465) and electrical conductivity (2.27 × 106 siemens per meter). Demonstrated applications—from multilayered variable stiffness printed circuit boards (PCBs) matching standard PCBs’ complexity to body-temperature responsive neural probe—underscore STAR ink’s potential for reconfigurable electronics across consumer electronics and biomedical devices.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Chemical complexity of phosphorous bearing species in various regions of the interstellar medium

arXiv

引用

arXiv 2021年

作者： Sil, Milan Srivastav, Satyam Bhat, Bratati Mondal, Suman Kumar Gorai, Prasanta Ghosh, Rana Shimonishi, Takashi Chakrabarti, Sandip K. Sivaraman, Bhalamurugan Pathak, Amit Nakatani, Naoki Furuya, Kenji Das, Ankan Indian Centre for Space Physics 43 Chalantika Garia Station Road Kolkata700084 India Department of Physics Institute of Science Banaras Hindu University Varanasi221005 India Department of Space Earth & Environment Chalmers University of Technology GothenburgSE-412 96 Sweden Center for Transdisciplinary Research Niigata University Nishi-ku Niigata950-2181 Japan Environmental Science Program Department of Science Faculty of Science Niigata University Nishi-ku Niigata950-2181 Japan Physical Research Laboratory Navrangpura Ahmedabad380009 India Institute for Catalysis Hokkaido University N21W10 Kita-ku Sapporo Hokkaido001-0021 Japan Department of Chemistry Graduate School of Science and Engineering Tokyo Metropolitan University 1-1 Minami-Osawa Hachioji Tokyo192-0397 Japan Center for Computational Sciences University of Tsukuba Tsukuba305-8577 Japan National Astronomical Observatory of Japan Tokyo181-8588 Japan

Phosphorus related species are not known to be as omnipresent in space as hydrogen, carbon, nitrogen, oxygen, and sulfur-bearing species. Astronomers spotted very few P-bearing molecules in the interstellar medium and circumstellar envelopes. Limited discovery of the P-bearing species imposes severe constraints in modeling the P-chemistry. In this paper, we carry out extensive chemical models to follow the fate of P-bearing species in diffuse clouds, photon-dominated or photodissociation regions (PDRs), and hot cores/corinos. We notice a curious correlation between the abundances of PO and PN and atomic nitrogen. Since N atoms are comparatively abundant in diffuse clouds and PDRs than in the hot core/corino region, PO/PN reflects 1 in the late warm-up evolutionary phase of the hot core/corino regions. During the end of the post-warm-up phase, we obtain PO/PN > 1 for hot core and 3along with various impurities. We notice that SO2overlaps with the PH3bending-scissoring modes around ∼ (1000 - 1100) cm-1. We also find that the presence of CO2can strongly influence the intensity of the stretching modes around ∼ 2400 cm-1of PH3 © 2021, CC0.

关键词： Radiative transfer

来源：评论

学校读者我要写书评

暂无评论

Is there any linkage between interstellar aldehyde and alcohol?

arXiv

引用

arXiv 2021年

作者： Mondal, Suman Kumar Gorai, Prasanta Sil, Milan Ghosh, Rana Etim, Emmanuel E. Chakrabarti, Sandip K. Shimonishi, Takashi Nakatani, Naoki Furuya, Kenji Tan, Jonathan C. Das, Ankan Indian Centre for Space Physics 43 Chalantika Garia Station Road Kolkata700084 India Department of Space Earth and Environment Chalmers University of Technology GothenburgSE-412 96 Sweden Department of Chemical Sciences Federal University Wukari Katsina-Ala Road P.M.B. 1020 Taraba State Wukari Nigeria Center for Transdisciplinary Research Niigata University Nishi-ku Niigata950-2181 Japan Environmental Science Program Department of Science Faculty of Science Niigata University Nishi-ku Niigata950-2181 Japan Institute for Catalysis Hokkaido University N21W10 Kita-ku Hokkaido Sapporo001-0021 Japan Center for Computational Sciences University of Tsukuba Tsukuba305-8577 Japan Department of Astronomy University of Virginia CharlottesvilleVA22904 United States Department of Chemistry Graduate School of Science and Engineering Tokyo Metropolitan University 1-1 Minami-Osawa Hachioji Tokyo192-0397 Japan National Astronomical Observatory of Japan Tokyo181-8588 Japan

It is speculated that there might be some linkage between interstellar aldehydes and their corresponding alcohols. Here, an observational study and astrochemical modeling are coupled together to illustrate the connection between them. The ALMA cycle 4 data of a hot molecular core, G10.47+0.03 is utilized for this study. Various aldehydes (acetaldehyde, propanal, and glycolaldehyde), alcohols (methanol and ethylene glycol), and a ketone (acetone) are identified in this source. The excitation temperatures and the column densities of these species were derived via the rotation diagram method assuming LTE conditions. An extensive investigation is carried out to understand the formation of these species. Six pairs of aldehyde-alcohol: i) methanal and methanol;ii) ethanal and ethanol;iii) propanal and 1-propanol;iv) propenal and allyl alcohol;v) propynal and propar gyl alcohol;vi) glycolaldehyde and ethylene glycol;vii) along with one pair of ketone-alcohol (acetone and isopropanol) and viii) ketene-alcohol (ethenone and vinyl alcohol) are considered for this study. Two succes sive hydrogenation reactions in the ice phase are examined to form these alcohols from aldehydes, ketone, and ketene, respectively. Quantum chemical methods are extensively executed to review the ice phase formation route and the kinetics of these species. Based on the obtained kinetic data, astrochemical modeling is employed to derive the abundances of these aldehydes, alcohols, ketone, and ketene in this source. It is seen that our model could successfully explain the observed abundances of various species in this hot molecular core. Copyright © 2021, The Authors. All rights reserved.

关键词： Acetone

来源：评论

学校读者我要写书评

暂无评论

Chemistry and physics of a low-metallicity hot core in the Large Magellanic Cloud

arXiv

引用

arXiv 2020年

作者： Shimonishi, Takashi Das, Ankan Sakai, Nami Tanaka, Kei E.I. Aikawa, Yuri Onaka, Takashi Watanabe, Yoshimasa Nishimura, Yuri Center for Transdisciplinary Research Niigata University Ikarashi-ninocho 8050 Nishi-ku Niigata950-2181 Japan Environmental Science Program Department of Science Faculty of Science Niigata University Ikarashi-ninocho 8050 Nishi-ku Niigata950-2181 Japan Indian Centre for Space Physics 43 Chalantika Garia Station Road Kolkata700084 India RIKEN 2-1 Hirosawa Wako Saitama351-0198 Japan Department of Earth and Space Science Osaka University Toyonaka Osaka560-0043 Japan ALMA Project National Astronomical Observatory of Japan Mitaka Tokyo181-8588 Japan Department of Astronomy Graduate School of Science University of Tokyo 7-3-1 Hongo Bunkyo-ku Tokyo113-0033 Japan Department of Physics Faculty of Science and Engineering 2-1-1 Hodokubo Hino Tokyo191-0042 Japan College of Engineering Nihon University 1 Nakagawara Tokusada Tamuramachi Koriyama Fukushima963-8642 Japan Institute of Astronomy University of Tokyo 2-21-1 Osawa Mitaka Tokyo181-0015 Japan

We here present the results of 0.1 pc-scale observations in 250 and 350 GHz towards a newly-discovered hot molecular core in a nearby low-metallicity galaxy, the Large Magellanic Cloud (LMC), with the Atacama Large Millimeter/submillimeter Array. A variety of C/N/O/Si/S-bearing molecules are detected towards the high-mass young stellar object, ST16. A rotating protostellar envelope is for the first time detected outside our Galaxy by SO2 and 34SO lines. An outflow cavity is traced by CCH and CN. The isotope abundance of sulfur in the source is estimated to be 32S/34S = 17 and 32S/33S = 53 based on SO, SO2, and CS isotopologues, suggesting that both 34S and 33S are overabundant in the LMC. Rotation diagram analyses show that the source is associated with hot gas (>100 K) traced by high-excitation lines of CH3OH and SO2, as well as warm gas (∼50 K) traced by CH3OH, SO2, 34SO, OCS, CH3CN lines. A comparison of molecular abundances between LMC and Galactic hot cores suggests that organic molecules (e.g., CH3OH, a classical hot core tracer) show a large abundance variation in low metallicity, where the present source is classified into an organic-poor hot core. Our astrochemical simulations suggest that different grain temperature during the initial ice-forming stage would contribute to the chemical differentiation. In contrast, SO2 shows similar abundances within all the known LMC hot cores and the typical abundance roughly scales with the LMC's metallicity. Nitrogen-bearing molecules are generally less abundant in the LMC hot cores, except for NO. The present results suggest that chemical compositions of hot cores do not always simply scale with the metallicity. Copyright © 2020, The Authors. All rights reserved.

关键词： Astrophysics

来源：评论

学校读者我要写书评

暂无评论

Silicone breast implant modification review: Overcoming capsular contracture

引用

Biomaterials Research 2018年第1期22卷 319-327页

作者： Shin, Byung Ho Kim, Byung Hwi Kim, Sujin Lee, Kangwon Choy, Young Bin Heo, Chan Yeong Seoul National University College of Medicine Department of Biomedical Engineering Seoul 03080 South Korea Seoul National University Department of Transdisciplinary Studies Graduate School of Convergence Science and Technology Seoul 08826 South Korea Seoul National University Interdisciplinary Program for Bioengineering College of Engineering Seoul 08826 South Korea Seoul National University Department of Plastic and Reconstructive Surgery College of Medicine Seoul 03080 South Korea Seoul National University Bundang Hospital Department of Plastic and Reconstructive Surgery Seongnam 13620 South Korea Seoul National University Institute of Medical and Biological Engineering Medical Research Center Seoul 03080 South Korea Advanced Institutes of Convergence Technology Suwon Gyeonggi-do 16229 South Korea

Background: Silicone implants are biomaterials that are frequently used in the medical industry due to their physiological inertness and low toxicity. However, capsular contracture remains a concern in long-term transplantation. To date, several studies have been conducted to overcome this problem. This review summarizes and explores these trends. Main body: First, we examined the overall foreign body response from initial inflammation to fibrosis capsule formation in detail and introduced various studies to overcome capsular contracture. Secondly, we introduced that the main research approaches are to inhibit fibrosis with anti-inflammatory drugs or antibiotics, to control the topography of the surface of silicone implants, and to administer plasma treatment. Each study examined aspects of the various mechanisms by which capsular contracture could occur, and addressed the effects of inhibiting fibrosis. Conclusion: This review introduces various silicone surface modification methods to date and examines their limitations. This review will help identify new directions in inhibiting the fibrosis of silicone implants. © 2018 The Author(s).

关键词： Capsular contracture Fibrosis Foreign body reaction Inflammation Modification Silicone implant

来源：评论

学校读者我要写书评

暂无评论

Promoting global education in science and engineering: An experience in Indonesian high schools

引用

Journal of Physics: Conference Series 2019年第1期1175卷

作者： F Triawan M K Biddinika S Hanaoka F Takahashi M Aziz Mechanical Engineering Study Program Sampoerna University Jl. Raya Pasar Minggu Kav 16 Jakarta Selatan 12780 Indonesia Department of Transdisciplinary Science and Engineering Tokyo Institute of Technology 2-12-1 Ookayama Meguro Tokyo 152-8550 Japan School of Environment and Society Tokyo Institute of Technology 4259 Nagatsuta Midori Yokohama 226-8503 Japan Center for Waste Management and Bioenergy Universitas Janabadra Jl. Tentara Rakyat Mataram 58 Bumijo Jetis Yogyakarta 55231 Indonesia Institute of Innovative Research Tokyo Institute of Technology 2-12-1 Ookayama Meguro Tokyo 152-8550 Japan

Japan has initiated higher education reform in which internationalization is one of the challenges as a way to improve excellence in research and competitiveness within Asia and the world. In becoming the 'Asian Gateway' to the rest of the world, Japan also invites students from Asian countries to pursue higher education in Japan. However, language problem is often considered as one of the barriers faced by international students – not only from Asian countries – in Japan, especially for undergraduate program since the program is mostly held in Japanese language. The Global Scientists and Engineers program (GSEP) is the international bachelor of engineering degree program in Tokyo Institute of Technology (Tokyo Tech). It does not require any Japanese language ability since the whole program would be taught in English. This paper presents the experience of promotional activities of the program in Indonesia in order to identify the challenges, to document the method, and to outline some recommendations for improvement. The promotion was held by presentation in front of 13 (thirteen) high schools in Jakarta and nearby. After the promotional presentation, participants were also requested to express their interest in applying the program as well as their perceived usefulness of the presentation.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Toward the integration of speciation research

引用

Evolutionary Journal of the Linnean Society 2024年第1期3卷

作者： Stankowski, Sean Cutter, Asher D Satokangas, Ina Lerch, Brian A Rolland, Jonathan Smadja, Carole M Segami Marzal, J Carolina Cooney, Christopher R Feulner, Philine G D Domingos, Fabricius Maia Chaves Bicalho North, Henry L Yamaguchi, Ryo Butlin, Roger K Wolf, Jochen B W Coughlan, Jenn Heidbreder, Patrick Hernández-Gutiérrez, Rebeca Barnard-Kubow, Karen B Peede, David Rancilhac, Loïs Salvador, Rodrigo Brincalepe Thompson, Ken A Stacy, Elizabeth A Moyle, Leonie C Garlovsky, Martin D Maulana, Arif Kantelinen, Annina Cacho, N Ivalú Schneemann, Hilde Domínguez, Marisol Dopman, Erik B Lohse, Konrad Rometsch, Sina J Comeault, Aaron A Merrill, Richard M Scordato, Elizabeth S C Singhal, Sonal Pärssinen, Varpu Lackey, Alycia C R Kumar, Sanghamitra Meier, Joana I Barton, Nicholas Fraïsse, Christelle Ravinet, Mark Kulmuni, Jonna Institute of Science and Technology Austria (ISTA) Klosterneuburg Austria Department of Ecology and Evolution University of Sussex Brighton United Kingdom Ecology & Evolutionary Biology University of Toronto Toronto Canada Organismal and Evolutionary Biology Research Programme University of Helsinki Helsinki Finland Department of Biology University of North Carolina at Chapel Hill Chapel Hill NC United States Centre de Recherche sur la Biodiversité et l’Environnement (CRBE) Université de Toulouse CNRS IRD Toulouse INP Université Toulouse 3 – Paul Sabatier (UT3) Toulouse France Institut des Sciences de l’Evolution de Montpellier ISEM Univ. Montpellier CNRS IRD Montpellier France Department of Biology Duke University Durham NC United States Ecology and Evolutionary Biology School of Biosciences University of Sheffield Sheffield United Kingdom Department of Fish Ecology and Evolution Centre of Ecology Evolution and Biogeochemistry EAWAG Swiss Federal Institute of Aquatic Science and Technology Kastanienbaum Switzerland Division of Aquatic Ecology and Evolution Institute of Ecology and Evolution University of Bern Bern Switzerland Departamento de Zoologia Universidade Federal do Paraná Curitiba PR Brazil Department of Zoology University of Cambridge Cambridge United Kingdom Department of Advanced Transdisciplinary Sciences Hokkaido University Sapporo Japan Department of Zoology & Biodiversity Research Centre University of British Columbia Vancouver Canada Department of Marine Sciences University of Gothenburg Gothenburg Sweden Division of Evolutionary Biology LMU Munich Munich Germany Department of Ecology & Evolutionary Biology Yale University New Haven CT United States Department of Evolution Ecology and Organismal Biology University of California Riverside Riverside CA United States Department of Biology James Madison University Harrisonburg VA United States Department of Ecology Evolution and Organismal Biology Brown University Provi

Speciation research—the scientific field focused on understanding the origin and diversity of species—has a long and complex history. While relevant to one another, the specific goals and activities of speciation researchers are highly diverse, and scattered across a collection of different perspectives. Thus, our understanding of speciation will benefit from efforts to bridge scientific findings and the diverse people who do the work. In this paper, we outline two ways of integrating speciation research: (i) scientific integration, through the bringing together of ideas, data, and approaches; and (ii) social integration, by creating ways for a diversity of researchers to participate in the scientific process. We then discuss five challenges to integration: (i) the multidisciplinary nature of speciation research, (ii) the complex language of speciation; (iii) a bias toward certain study systems; (iv) the challenges of working across scales; and (v) inconsistent measures and reporting standards. We provide practical steps that individuals and groups can take to help overcome these challenges, and argue that integration is a team effort in which we all have a role to play.

关键词：

来源：评论

学校读者我要写书评

暂无评论

Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

引用

Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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：