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arXiv 2024年

作者： Turishcheva, Polina Fahey, Paul G. Vystrčilová, Michaela Hansel, Laura Froebe, Rachel Ponder, Kayla Qiu, Yongrong Willeke, Konstantin F. Bashiri, Mohammad Baikulov, Ruslan Zhu, Yu Ma, Lei Yu, Shan Huang, Tiejun Li, Bryan M. De Wulf, Wolf Kudryashova, Nina Hennig, Matthias H. Rochefort, Nathalie L. Onken, Arno Wang, Eric Ding, Zhiwei Tolias, Andreas S. Sinz, Fabian H. Ecker, Alexander S. Institute of Computer Science University of Göttingen Campus Institute Data Science Germany Department of Neuroscience Center for Neuroscience and Artificial Intelligence Baylor College of Medicine HoustonTX United States Department of Ophthalmology Byers Eye Institute Stanford University School of Medicine StanfordCA United States Stanford Bio-X Stanford University StanfordCA United States Wu Tsai Neurosciences Institute Stanford University StanfordCA United States International Max Planck Research School for Intelligent Systems Tübingen Germany Institute for Bioinformatics and Medical Informatics Tübingen University Germany lRomul Russia Institute of Automation Chinese Academy of Sciences China Beijing Academy of Artificial Intelligence China The Alan Turing Institute United Kingdom School of Informatics University of Edinburgh United Kingdom Centre for Discovery Brain Sciences University of Edinburgh United Kingdom Simons Initiative for the Developing Brain University of Edinburgh United Kingdom Department of Electrical Engineering Stanford University StanfordCA United States Max Planck Institute for Dynamics and Self-Organization Göttingen Germany

Understanding how biological visual systems process information is challenging because of the nonlinear relationship between visual input and neuronal responses. Artificial neural networks allow computational neuroscientists to create predictive models that connect biological and machine vision. Machine learning has benefited tremendously from benchmarks that compare different model on the same task under standardized conditions. However, there was no standardized benchmark to identify state-of-the-art dynamic models of the mouse visual system. To address this gap, we established the SENSORIUM 2023 Benchmark Competition with dynamic input, featuring a new large-scale dataset from the primary visual cortex of ten mice. This dataset includes responses from 78,853 neurons to 2 hours of dynamic stimuli per neuron, together with the behavioral measurements such as running speed, pupil dilation, and eye movements. The competition ranked models in two tracks based on predictive performance for neuronal responses on a held-out test set: one focusing on predicting in-domain natural stimuli and another on out-of-distribution (OOD) stimuli to assess model generalization. As part of the NeurIPS 2023 competition track, we received more than 160 model submissions from 22 teams. Several new architectures for predictive models were proposed, and the winning teams improved the previous state-of-the-art model by 50%. Access to the dataset as well as the benchmarking infrastructure will remain online at ***. © 2024, CC BY-NC-ND.

关键词： Neurons

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A Geoelectric Approach for Karst Groundwater Analysis

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IOP Conference Series: Earth and Environmental science 2022年第1期998卷

作者： Amallia Ferhat Taufik Seizarsyah Mohammad Prasanto Bimantio Nanda Satya Nugraha Dian Pratama Putra Teddy Suparyanto Alam Ahmad Hidayat Bens Pardamean Agribusiness Department Institute of Agricultural STIPER Yogyakarta 55282 Indonesia Geophysical Engineering Department Universitas Pembangunan Nasional 'Veteran' Yogyakarta Indonesia Agricultural Crop Technology Department Institute of Agricultural STIPER Yogyakarta 55282 Indonesia Forestry Department Institute of Agricultural STIPER Yogyakarta 55282 Indonesia Agricultural Engineering Department Institute of Agricultural STIPER Yogyakarta 55282 Indonesia Bioinformatics and Data Science Research Center Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program – Master of Computer Science Bina Nusantara University Jakarta Indonesia 11480

Artesian well is one of the major efforts to obtain water source for fulfilling water demands in Eroniti Conservation park, Ponjong, Yogyakarta by drilling deep into several soil layers. Vertical Electrical Sounding (VES) method is the most common approach to determine the existence of groundwater. The method probes layers of rock below the ground surface based on their electrical properties, since the electrical resistivity of each layer is theoretically different. This study aims to utilize the VES approach for investigating the properties of the rock layers in the area to explore groundwater sources. We install six different VES points in the observation area using Schlumberger electrode configuration. The methodology of the work consists of three steps: the planning of the placement of the sounding points, the measurement step performed by a unit of IRIS SYSCAL Resistivity meter, and the data analysis and interpretation. Employing the resistivity analysis, we conclude that the observed region consists of Mediterranean soil as a result of weathering of limestone as well as lithology of the limestone. Furthermore, there are two types of aquifer found in the area: a perched aquifer found 27 meters below the ground surface of VES point 1 and a confined aquifer 166 meters below the ground surface of VES point 2 and 6.

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Redefining pandemic preparedness:Multidisciplinary insights from the CERP modelling workshop in infectious diseases,workshop report

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Infectious Disease Modelling 2024年第2期9卷 501-518页

作者： Marta C.Nunes Edward Thommes Holger Fröhlich Antoine Flahault Julien Arino Marc Baguelin Matthew Biggerstaff Gaston Bizel-Bizellot Rebecca Borchering Giacomo Cacciapaglia Simon Cauchemez Alex Barbier-Chebbah Carsten Claussen Christine Choirat Monica Cojocaru Catherine Commaille-Chapus Chitin Hon Jude Kong Nicolas Lambert Katharina B.Lauer Thorsten Lehr Cédric Mahe Vincent Marechal Adel Mebarki Seyed Moghadas Rene Niehus Lulla Opatowski Francesco Parino Gery Pruvost Andreas Schuppert Rodolphe Thiébaut Andrea Thomas-Bachli Cecile Viboud Jianhong Wu Pascal Crépey Laurent Coudeville Center of Excellence in Respiratory Pathogens(CERP) Hospices Civils de Lyon(HCL)and Centre International de Recherche en Infectiologie(CIRI)Équipe SantéPubliqueÉpidémiologie etÉcologieÉvolutive des Maladies Infectieuses(PHE3ID)Inserm U1111CNRS UMR5308ENS de LyonUniversitéClaude Bernard Lyon 1LyonFrance South African Medical Research Council Vaccines&Infectious Diseases Analytics Research UnitFaculty of Health SciencesUniversity of the WitwatersrandJohannesburgSouth Africa New Products and Innovation(NPI) Sanofi Vaccines(Global)TorontoOntarioCanada Department of Mathematics and Statistics University of GuelphGuelphOntarioCanada Fraunhofer Institute for Algorithms and Scientific Computing(SCAI) Department of BioinformaticsSchloss BirlinghovenSankt AugustinGermany University of Bonn Bonn-Aachen International Center for IT(b-it)BonnGermany Institute of Global Health Faculty of MedicineUniversity of GenevaGenevaSwitzerland and Swiss School of Public HealthZürichSwitzerland Department of Mathematics University of ManitobaWinnipegManitobaCanada MRC Centre for Global Infectious Disease Analysis School of Public HealthImperial College LondonLondonUK Centre for Mathematical Modelling of Infectious Diseases Department of Infectious Disease EpidemiologyLondon School of Hygiene&Tropical MedicineLondonUK National Center for Immunization and Respiratory Diseases(NCIRD) US Centers for Disease Control and Prevention(CDC)AtlantaGAUSA Departement of Computational Biology Departement of Global HealthInstitut PasteurParisFrance Institut de Physique des Deux Infinis de Lyon(IP2I) UMR5822IN2P3/CNRSUniversitéClaude Bernard Lyon 1VilleurbanneFrance Mathematical Modelling of Infectious Diseases Unit Institut PasteurUniversitéParis CitéUMR2000 CNRSParisFrance Decision and Bayesian Computation Institut PasteurUniversitéParis CitéCNRS UMR 3571France Fraunhofer-Institute for Translational Medicine and Pharmacology HamburgGermany Institute of Global Health Faculty of MedicineUniversity of

In July 2023,the center of Excellence in Respiratory Pathogens organized a two-day workshop on infectious diseases modelling and the lessons learnt from the Covid-19 *** report summarizes the rich discussions that occurred during the *** workshop participants discussed multisource data integration and highlighted the benefits of combining traditional surveillance with more novel data sources like mobility data,social media,and wastewater *** advancements were noted in the development of predictive models,with examples from various countries showcasing the use of machine learning and artificial intelligence in detecting and monitoring disease *** role of open collaboration between various stakeholders in modelling was stressed,advocating for the continuation of such partnerships beyond the pandemic.A major gap identified was the absence of a common international framework for data sharing,which is crucial for global pandemic ***,the workshop underscored the need for robust,adaptable modelling frameworks and the integration of different data sources and collaboration across sectors,as key elements in enhancing future pandemic response and preparedness.

关键词： Modelling Covid-19 Infectious diseases Pandemic preparedness Workshop

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The status of the human gene catalogue

arXiv

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arXiv 2023年

作者： Amaral, Paulo Carbonell-Sala, Silvia De La Vega, Francisco M. Faial, Tiago Frankish, Adam Gingeras, Thomas Guigo, Roderic Harrow, Jennifer L. Hatzigeorgiou, Artemis G. Johnson, Rory Murphy, Terence D. Pertea, Mihaela Pruitt, Kim D. Pujar, Shashikant Takahashi, Hazuki Ulitsky, Igor Varabyou, Ales Wells, Christine A. Yandell, Mark Carninci, Piero Salzberg, Steven L. INSPER Institute of Education and Research SP São Paulo Brazil Dr. Aiguader 88 Catalonia Barcelona08003 Spain Department of Biomedical Data Science Stanford University School of Medicine StanfordCA United States Tempus Labs Inc. ChicagoIL United States Nature Genetics San FranciscoCA United States European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton CambridgeCB10 1SD United Kingdom Department of Functional Genomics Cold Spring Harbor Laboratory Cold Spring HarborNY United States Catalonia Barcelona Spain Centre for Genomics Research Discovery Sciences AstraZeneca Da Vinci Building. Melbourn Science Park RoystonSG8 6HB United Kingdom Universithy of Thessaly Department of Computer Science and Biomedical Informatics Lamia Greece Hellenic Pasteur Institute Athens Greece School of Biology and Environmental Science University College Dublin DublinD04 V1W8 Ireland Conway Institute of Biomedical and Biomolecular Research University College Dublin DublinD04 V1W8 Ireland Department of Medical Oncology Inselspital Bern University Hospital University of Bern Bern3010 Switzerland Department for BioMedical Research University of Bern Bern3008 Switzerland National Center for Biotechnology Information National Library of Medicine National Institutes of Health BethesdaMD20894 United States Center for Computational Biology Johns Hopkins University BaltimoreMD United States Department of Biomedical Engineering Johns Hopkins University BaltimoreMD United States Laboratory for Transcriptome Technology RIKEN Center for Integrative Medical Sciences Kanagawa Yokohama230-0045 Japan Department of Immunology and Regenerative Biology Department of Molecular Neuroscience Weizmann Institute of Science Rehovot76100 Israel Department of Computer Science Johns Hopkins University BaltimoreMD United States Stem Cell Systems Department of Anatomy and Physiology Faculty of Medicine Dentistry and Health Scien

Scientists have been trying to identify all of the genes in the human genome since the initial draft of the genome was published in 2001. Over the intervening years, much progress has been made in identifying protein-coding genes, and the estimated number has shrunk to fewer than 20,000, although the number of distinct protein-coding isoforms has expanded dramatically. The invention of high-throughput RNA sequencing and other technological breakthroughs have led to an explosion in the number of reported non-coding RNA genes, although most of them do not yet have any known function. A combination of recent advances offers a path forward to identifying these functions and towards eventually completing the human gene catalogue. However, much work remains to be done before we have a universal annotation standard that includes all medically significant genes, maintains their relationships with different reference genomes, and describes clinically relevant genetic variants. © 2023, CC BY.

关键词： Genes

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Author Correction: The landscape of viral associations in human cancers

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Nature genetics 2023年第6期55卷 1077页

作者： Marc Zapatka Ivan Borozan Daniel S Brewer Murat Iskar Adam Grundhoff Malik Alawi Nikita Desai Holger Sültmann Holger Moch Colin S Cooper Roland Eils Vincent Ferretti Peter Lichter Division of Molecular Genetics German Cancer Research Center (DKFZ) Heidelberg Germany. Informatics and Bio-computing Program Ontario Institute for Cancer Research Toronto Ontario Canada. Norwich Medical School University of East Anglia Norwich UK. Earlham Institute Norwich UK. Heinrich-Pette-Institute Leibniz Institute for Experimental Virology Hamburg Germany. German Center for Infection Research (DZIF) Partner Site Hamburg-Borstel-Lübeck-Riems Hamburg Germany. Bioinformatics Core University Medical Center Hamburg-Eppendorf Hamburg Germany. Bioinformatics Group Department of Computer Science University College London London UK. Biomedical Data Science Laboratory Francis Crick Institute London UK. National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany. Division of Cancer Genome Research German Cancer Research Center (DKFZ) Heidelberg Germany. German Cancer Consortium (DKTK) Heidelberg Germany. Department of Pathology and Molecular Pathology University and University Hospital Zürich Zurich Switzerland. Institute of Cancer Research London UK. University of East Anglia Norwich UK. Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany. Department of Bioinformatics and Functional Genomics Institute of Pharmacy and Molecular Biotechnology Heidelberg University and BioQuant Center Heidelberg Germany. Center for Digital Health Berlin Institute of Health and Charité Universitätsmedizin Berlin Berlin Germany. Ontario Institute for Cancer Research MaRS Centre Toronto Ontario Canada. Department of Biochemistry and Molecular Medicine University of Montreal Montreal Québec Canada. Division of Molecular Genetics German Cancer Research Center (DKFZ) Heidelberg Germany. peter.lichter@dkfz-heidelberg.de. German Cancer Consortium (DKTK) Heidelberg Germany. peter.lichter@dkfz-heidelberg.de.

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Patterns of somatic structural variation in human cancer genomes (vol 578, pg 112, 2020)

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NATURE 2023年第7948期614卷 E38-E38页

作者： Li, Yilong Roberts, Nicola D. Wala, Jeremiah A. Shapira, Ofer Schumacher, Steven E. Kumar, Kiran Khurana, Ekta Waszak, Sebastian Korbel, Jan O. Haber, James E. Imielinski, Marcin Weischenfeldt, Joachim Beroukhim, Rameen Campbell, Peter J. Cancer Genome Project Wellcome Trust Sanger Institute Hinxton UK Totient Inc Cambridge MA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Haematology University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Korea Advanced Institute of Science and Technology Daejeon South Korea Department of Zoology Genetics and Physical Anthropology University of Santiago de Compostela Santiago de Compostela Spain Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) University of Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain Centre for Research in Molecular Medicine and Chronic Diseases (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain Department of Zoology Genetics and Physical Anthropology (CiMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain The Broad Institute of Harvard and MIT Cambridge MA USA Bioinformatics and Integrative Genomics Harvard University Cambridge MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Harvard Medical School Boston MA USA Massachusetts General Hospital Center for Cancer Research Charlestown MA USA Dana-Farber Cancer Institute Boston MA USA Department of Biostatistics and Computational Biology Dana-Farber Cancer Institute and Harvard Medical School Boston MA USA Weill Cornell Medical College New York NY USA Department of Physiology and Biophysics Weill Cornell Medicine New York NY USA Institute for Computational Biomedicine Weill Cornell Medicine New York NY USA Controlled Department and Institution New York NY USA Englander Institute for Precision Medicine Weill Cornell Medicine Ne

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Subgrouping of Burkitt lymphoma variants by DNA methylation is driven by an EBV-associated epigenotype

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Hematological Oncology 2023年第S2期41卷

作者： S. Glaser C. Del Val R. Wagener H. Kretzmer W. Klapper M. Hummel O. Ammerpohl P. Lichter B. Burkhardt L. Trümper S. Mbulaiteye Institute of Human Genetics Ulm University and Ulm University Medical Center Ulm Germany Department of Computer Science and Artifical Intelligence Andalusian Research Institute in Data Science and Computational Intelligence (DaSCI) Universtiy of Granada Granada Spain Transciptome Bioinformatics Group LIFE Research Center for Civilization Diseases University of Leipzig Leipzig Germany Department of Pathology University of Kiel/University Hospital Schleswig-Holstein Kiel Germany Institute of Pathology Charité – University Medicine Berlin Berlin Germany Division of Molecular Genetics German Cancer Research Center Heidelberg Germany Department of Pediatric Hematology and Oncology University Hospital Münster Münster Germany Hematology and Oncology University of Göttingen Göttingen Germany Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Bethesda MC USA

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Declaración PRISMA 2020: una guía actualizada para la publicación de revisiones sistemáticas

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Revista Española de Cardiología (English Edition) 2021年第9期74卷 790-799页

作者： Matthew J. Page Joanne E. McKenzie Patrick M. Bossuyt Isabelle Boutron Tammy C. Hoffmann Cynthia D. Mulrow Larissa Shamseer Jennifer M. Tetzlaff Elie A. Akl Sue E. Brennan Roger Chou Julie Glanville Jeremy M. Grimshaw Asbjørn Hróbjartsson Manoj M. Lalu Tianjing Li Elizabeth W. Loder Evan Mayo-Wilson David Moher School of Public Health and Preventive Medicine Monash University Melbourne Australia Department of Clinical Epidemiology Biostatistics and Bioinformatics Amsterdam University Medical Centres University of Amsterdam Amsterdam Países Bajos Université de Paris Centre of Epidemiology and Statistics (CRESS) Inserm F 75004 Paris Francia Institute for Evidence-Based Healthcare Faculty of Health Sciences and Medicine Bond University Gold Coast Australia University of Texas Health Science Center at San Antonio San Antonio Texas Estados Unidos Annals of Internal Medicine Knowledge Translation Program Li Ka Shing Knowledge Institute Toronto Canadá School of Epidemiology and Public Health Faculty of Medicine University of Ottawa Ottawa Canada Evidence Partners Ottawa Canadá Clinical Research Institute American University of Beirut Beirut Líbano Department of Health Research Methods Evidence and Impact McMaster University Hamilton Ontario Canadá Department of Medical Informatics and Clinical Epidemiology Oregon Health & Science University Portland Oregón Estados Unidos York Health Economics Consortium (YHEC Ltd) University of York York Reino Unido Clinical Epidemiology Program Ottawa Hospital Research Institute Ottawa Canadá School of Epidemiology and Public Health University of Ottawa Ottawa Canadá Department of Medicine University of Ottawa Ottawa Canadá Centre for Evidence-Based Medicine Odense Odense University Hospital Odense Dinamarca Department of Clinical Research University of Southern Denmark Odense Dinamarca Open Patient data Explorative Network Odense University Hospital Odense Dinamarca Department of Anesthesiology and Pain Medicine The Ottawa Hospital Ottawa Canadá Clinical Epidemiology Program Blueprint Translational Research Group Ottawa Hospital Research Institute Ottawa Canadá Regenerative Medicine Program Ottawa Hospital Research Institute Ottawa Canadá Department of Ophthalmology School of Medicine University of Colorado Denver Den

La declaración PRISMA ( Preferred Reporting Items for Systematic reviews and Meta-Analyses ), publicada en 2009, se diseñó para ayudar a los autores de revisiones sistemáticas a documentar de manera transparente el porqué de la revisión, qué hicieron los autores y qué encontraron. Durante la última década, ha habido muchos avances en la metodología y terminología de las revisiones sistemáticas, lo que ha requerido una actualización de esta guía. La declaración prisma 2020 sustituye a la declaración de 2009 e incluye una nueva guía de presentación de las publicaciones que refleja los avances en los métodos para identificar, seleccionar, evaluar y sintetizar estudios. La estructura y la presentación de los ítems ha sido modificada para facilitar su implementación. En este artículo, presentamos la lista de verificación PRISMA 2020 con 27 ítems, y una lista de verificación ampliada que detalla las recomendaciones en la publicación de cada ítem, la lista de verificación del resumen estructurado PRISMA 2020 y el diagrama de flujo revisado para revisiones sistemáticas. The Preferred Reporting Items for Systematic reviews and Meta-Analyses (PRISMA) statement, published in 2009, was designed to help systematic reviewers transparently report why the review was done, what the authors did, and what they found. Over the past decade, advances in systematic review methodology and terminology have necessitated an update to the guideline. The PRISMA 2020 statement replaces the 2009 statement and includes new reporting guidance that reflects advances in methods to identify, select, appraise, and synthesise studies. The structure and presentation of the items have been modified to facilitate implementation. In this article, we present the PRISMA 2020 27-item checklist, an expanded checklist that details reporting recommendations for each item, the PRISMA 2020 abstract checklist, and the revised flow diagrams for original and updated reviews. Full English text available from : ***

关键词： Guía de publicación Revisión sistemática Metanálisis Escritura médica Publishing guide Systematic review Meta-analysis Medical writing

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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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.

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*** as digital platform for vegetation analysis and estimation of carbon stock in KEHATI aqua park

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AIP Conference Proceedings 2024年第1期3026卷

作者： Nanda Satya Nugraha Dian Pratama Putra Mohammad Prasanto Bimantio Amallia Ferhat Rama Zakaria Rudi Nirwantono Teddy Suparyanto Bens Pardamean Faculty of Forestry Institute of Agriculture STIPER Yogyakarta Indonesia 55282 Faculty of Agriculture Institute of Agriculture STIPER Yogyakarta Indonesia 55282 Faculty of Agricultural Technology Institute of Agriculture STIPER Yogyakarta Indonesia 55282 PT. Tirta Investama Pabrik Klaten Klaten Central Java Indonesia 57474 Bioinformatics & Data Science Research Center Bina Nusantara University Jakarta Indonesia 1148 Biotechnology Department Faculty of Engineering Bina Nusantara University Jakarta Indonesia 11480 Computer Science Department BINUS Graduate Program - Master of Computer Science Program Bina Nusantara University Jakarta Indonesia 11480

KEHATI AQUA Park is one of the green areas managed by PT. Tirta Investama Klaten (Klaten Factory). This area is located in Wangen and Ponggok Villages, Polanharjo District, Klaten Regency, Central Java, and is an integral part of the company’s seriousness in carbon reduction movement. When maintenance of the area is important for the sustainability of the park, there is however no data on the trees inventory in the area. Therefore, this study aims to invent the trees at KEHATI AQUA Park and evaluate the potential of the area to become a carbon sink using *** application. This study was conducted at the KEHATI AQUA Park. The census method was performed to collect tree data, and the result was recorded in *** application. The carbon stock calculation was estimated using the application according to the tree data submitted in the application. The study included a total of 1048 plantation spots in 51 tree species. From those numbers, about 738 trees existed, and the remaining spots were blank spaces. Based on the condition of the trees, those were 660 good trees, 17 dry trees, and 61 under pest infection. The carbon stock estimation at KEHATI AQUA Park Klaten in the next five years (2026) is around 40 tons of carbon. Therefore, it can be concluded that the park is valuable as an area to preserve biodiversity and as a carbon sink.

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