检索结果-内蒙古大学图书馆

Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

Biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

来源：评论

学校读者我要写书评

暂无评论

Identifying the best machine learning algorithms for brain tumor segmentation, progression assessment, and overall survival prediction in the BRATS challenge

arXiv

引用

arXiv 2018年

作者： Bakas, Spyridon Reyes, Mauricio Jakab, Andras Bauer, Stefan Rempfler, Markus Crimi, Alessandro Shinohara, Russell Takeshi Berger, Christoph Ha, Sung Min Rozycki, Martin Prastawa, Marcel Alberts, Esther Lipkova, Jana Freymann, John Kirby, Justin Bilello, Michel Fathallah-Shaykh, Hassan M. Wiest, Roland Kirschke, Jan Wiestler, Benedikt Colen, Rivka Kotrotsou, Aikaterini Lamontagne, Pamela Marcus, Daniel Milchenko, Mikhail Nazeri, Arash Weber, Marc-Andr Mahajan, Abhishek Baid, Ujjwal Gerstner, Elizabeth Kwon, Dongjin Acharya, Gagan Agarwal, Manu Alam, Mahbubul Albiol, Alberto Albiol, Antonio Albiol, Francisco J. Alex, Varghese Allinson, Nigel Amorim, Pedro H.A. Amrutkar, Abhijit Anand, Ganesh Andermatt, Simon Arbel, Tal Arbelaez, Pablo Avery, Aaron Azmat, Muneeza Pranjal, B. Bai, Wenjia Banerjee, Subhashis Barth, Bill Batchelder, Thomas Batmanghelich, Kayhan Battistella, Enzo Beers, Andrew Belyaev, Mikhail Bendszus, Martin Benson, Eze Bernal, Jose Bharath, Halandur Nagaraja Biros, George Bisdas, Sotirios Brown, James Cabezas, Mariano Cao, Shilei Cardoso, Jorge M. Carver, Eric N. Casamitjana, Adri Castillo, Laura Silvana Cat, Marcel Cattin, Philippe Cérigues, Albert Chagas, Vinicius S. Chandra, Siddhartha Chang, Yi-Ju Chang, Shiyu Chang, Ken Chazalon, Joseph Chen, Shengcong Chen, Wei Chen, Jefferson W. Chen, Zhaolin Cheng, Kun Choudhury, Ahana Roy Chylla, Roger Clrigues, Albert Colleman, Steven Colmeiro, Ramiro German Rodriguez Combalia, Marc Costa, Anthony Cui, Xiaomeng Dai, Zhenzhen Dai, Lutao Daza, Laura Alexandra Deutsch, Eric Ding, Changxing Dong, Chao Dong, Shidu Dudzik, Wojciech Eaton-Rosen, Zach Egan, Gary Escudero, Guilherme Estienne, Tho Everson, Richard Fabrizio, Jonathan Fan, Yong Fang, Longwei Feng, Xue Ferrante, Enzo Fidon, Lucas Fischer, Martin French, Andrew P. Fridman, Naomi Fu, Huan Fuentes, David Gao, Yaozong Gates, Evan Gering, David Gholami, Amir Gierke, Willi Glocker, Ben Gong, Mingming Gonzlez-Vill, Sandra Grosges, T. Guan, Yuanfang Guo, Sheng Gupta, Sudeep Han, Woo-Sup Han, Il Song Harmuth, Ko Center for Biomedical Image Computing and Analytics University of Pennsylvania PhiladelphiaPA United States Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Institute for Surgical Technology and Biomechanics University of Bern Bern Switzerland Center for MR-Research University Children's Hospital Zurich Zurich Switzerland Support Centre for Advanced Neuroimaging Inselspital Institute for Diagnostic and Interventional Neuroradiology Bern University Hospital Bern Switzerland University Hospital of Zurich Zurich Switzerland Center for Clinical Epidemiology and Biostatistics University of Pennsylvania Philadelphia United States Image-Based Biomedical Modeling Group Technical University of Munich Munich Germany Icahn School of Medicine Mount Sinai Health System New YorkNY United States Leidos Biomedical Research Inc. Frederick National Laboratory for Cancer Research FrederickMD21701 United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD20814 United States Department of Neurology University of Alabama at Birmingham BirminghamAL United States Department of Diagnostic Radiology University of Texas MD Anderson Cancer Center HoustonTX United States Department of Psychology Washington University St. LouisMO United States Neuroimaging Informatics and Analysis Center Washington University St. LouisMO United States Department of Radiology Washington University St. LouisMO United States Institute of Diagnostic and Interventional Radiology Pediatric Radiology and Neuroradiology University Medical Center Rostock Ernst-Heydemann-Str. 6 Rostock18057 Germany Tata Memorial Centre Homi Bhabha National Institute Mumbai India Shri Guru Gobind Singhji Institute of Engineering and Technology Nanded India NVIDIA Santa Clara

Gliomas are the most common primary brain malignancies, with different degrees of aggressiveness, variable prognosis and various heterogeneous histologic sub-regions, i.e., peritumoral edematous/invaded tissue, necrotic core, active and non-enhancing core. This intrinsic heterogeneity is also portrayed in their radio-phenotype, as their sub-regions are depicted by varying intensity profiles disseminated across multi-parametric magnetic resonance imaging (mpMRI) scans, reflecting varying biological properties. Their heterogeneous shape, extent, and location are some of the factors that make these tumors difficult to resect, and in some cases inoperable. The amount of resected tumor is a factor also considered in longitudinal scans, when evaluating the apparent tumor for potential diagnosis of progression. Furthermore, there is mounting evidence that accurate segmentation of the various tumor sub-regions can offer the basis for quantitative image analysis towards prediction of patient overall survival. This study assesses the state-of-the-art machine learning (ML) methods used for brain tumor image analysis in mpMRI scans, during the last seven instances of the International Brain Tumor Segmentation (BraTS) challenge, i.e., 2012-2018. Specifically, we focus on i) evaluating segmentations of the various glioma sub-regions in pre-operative mpMRI scans, ii) assessing potential tumor progression by virtue of longitudinal growth of tumor sub-regions, beyond use of the RECIST/RANO criteria, and iii) predicting the overall survival from pre-operative mpMRI scans of patients that underwent gross total resection. Finally, we investigate the challenge of identifying the best ML algorithms for each of these tasks, considering that apart from being diverse on each instance of the challenge, the multi-institutional mpMRI BraTS dataset has also been a continuously evolving/growing dataset. Copyright © 2018, The Authors. All rights reserved.

关键词： Tumors

来源：评论

学校读者我要写书评

暂无评论

Genetic analysis of over 1 million people identifies 535 new loci associated with blood pressure traits (vol 50, pg 1412, 2018)

引用

NATURE GENETICS 2018年第12期50卷 1755-1755页

作者： Evangelou, Evangelos Warren, Helen R. Mosen-Ansorena, David Mifsud, Borbala Pazoki, Raha Gao, He Ntritsos, Georgios Dimou, Niki Cabrera, Claudia P. Karaman, Ibrahim Fu Liang Ng Evangelou, Marina Witkowska, Katarzyna Tzanis, Evan Hellwege, Jacklyn N. Giri, Ayush Edwards, Digna R. Velez Sun, Yan V. Cho, Kelly Gaziano, J. Michael Wilson, Peter W. F. Tsao, Philip S. Kovesdy, Csaba P. Esko, Tonu Magi, Reedik Milani, Lili Almgren, Peter Boutin, Thibaud Debette, Stephanie Ding, Jun Giulianini, Franco Holliday, Elizabeth G. Jackson, Anne U. Li-Gao, Ruifang Lin, Wei-Yu Luan, Jian'an Mangino, Massimo Oldmeadow, Christopher Prins, Bram Peter Qian, Yong Sargurupremraj, Muralidharan Shah, Nabi Surendran, Praveen Theriault, Sebastien Verweij, Niek Willems, Sara M. Zhao, Jing-Hua Amouyel, Philippe Connell, John de Mutsert, Renee Doney, Alex S. F. Farrall, Martin Menni, Cristina Morris, Andrew D. Noordam, Raymond Pare, Guillaume Poulter, Neil R. Shields, Denis C. Stanton, Alice Thom, Simon Abecasis, Goncalo Amin, Najaf Arking, Dan E. Ayers, Kristin L. Barbieri, Caterina M. Batini, Chiara Bis, Joshua C. Blake, Tineka Bochud, Murielle Boehnke, Michael Boerwinkle, Eric Boomsma, Dorret I. Bottinger, Erwin P. Braund, Peter S. Brumat, Marco Campbell, Archie Campbell, Harry Chakravarti, Aravinda Chambers, John C. Chauhan, Ganesh Ciullo, Marina Cocca, Massimiliano Collins, Francis Cordell, Heather J. Davies, Gail de Borst, Martin H. de Geus, Eco J. Deary, Ian J. Deelen, Joris Del Greco, Fabiola M. Demirkale, Cumhur Yusuf Dorr, Marcus Ehret, Georg B. Elosua, Roberto Enroth, Stefan Erzurumluoglu, A. Mesut Ferreira, Teresa Franberg, Mattias Franco, Oscar H. Gandin, Ilaria Gasparini, Paolo Giedraitis, Vilmantas Gieger, Christian Girotto, Giorgia Goel, Anuj Gow, Alan J. Gudnason, Vilmundur Guo, Xiuqing Gyllensten, Ulf Hamsten, Anders Harris, Tamara B. Harris, Sarah E. Hartman, Catharina A. Havulinna, Aki S. Hicks, Andrew A. Hofer, Edith Hofman, Albert Hottenga, Jouke-Jan Huffman, Jennifer E. Hwang, Shih-Jen Ingelsson, Erik James, Alan Jansen Department of Epidemiology and Biostatistics Imperial College London London UK Department of Hygiene and Epidemiology University of Ioannina Medical School Ioannina Greece William Harvey Research Institute Barts and The London School of Medicine and Dentistry Queen Mary University of London London UK National Institute for Health Research Barts Cardiovascular Biomedical Research Center Queen Mary University of London London UK MRC-PHE Centre for Environment and Health Imperial College London London UK Department of Mathematics Imperial College London London UK Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Medical Center Tennessee Valley Healthcare System (626)/Vanderbilt University Nashville TN USA Vanderbilt Genetics Institute Vanderbilt Epidemiology Center Department of Obstetrics and Gynecology Vanderbilt University Medical Center Tennessee Valley Health Systems VA Nashville TN USA Department of Epidemiology Emory University Rollins School of Public Health Atlanta GA USA Department of Biomedical Informatics Emory University School of Medicine Atlanta GA USA Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA Division of Aging Department of Medicine Brigham and Women’s Hospital Department of Medicine Harvard Medical School Boston MA USA Atlanta VAMC and Emory Clinical Cardiovascular Research Institute Atlanta GA USA VA Palo Alto Health Care System Division of Cardiovascular Medicine Stanford University School of Medicine Stanford CA USA Nephrology Section Memphis VA Medical Center and University of Tennessee Health Science Center Memphis TN USA Estonian Genome Center University of Tartu Tartu Estonia Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Department Clinical Sciences Malmö Lund University Malmö Sweden MRC Human Genetics Un

High blood pressure is a highly heritable and modifiable risk factor for cardiovascular disease. We report the largest genetic association study of blood pressure traits (systolic, diastolic and pulse pressure) to date in over 1 million people of European ancestry. We identify 535 novel blood pressure loci that not only offer new biological insights into blood pressure regulation but also highlight shared genetic architecture between blood pressure and lifestyle exposures. Our findings identify new biological pathways for blood pressure regulation with potential for improved cardiovascular disease prevention in the future.

关键词： Cardiovascular diseases Genome informatics Genome-wide association studies

来源：评论

学校读者我要写书评

暂无评论

Democratising Knowledge Representation with BioCypher

arXiv

引用

arXiv 2022年

作者： Lobentanzer, Sebastian Aloy, Patrick Baumbach, Jan Bohar, Balazs Charoentong, Pornpimol Danhauser, Katharina Doğan, Tunca Dreo, Johann Dunham, Ian Fernandez-Torras, Adrià Gyori, Benjamin M. Hartung, Michael Hoyt, Charles Tapley Klein, Christoph Korcsmaros, Tamas Maier, Andreas Mann, Matthias Ochoa, David Pareja-Lorente, Elena Popp, Ferdinand Preusse, Martin Probul, Niklas Schwikowski, Benno Sen, Bünyamin Strauss, Maximilian T. Turei, Denes Ulusoy, Erva Heidrun Wodke, Judith Andrea Saez-Rodriguez, Julio Heidelberg University Faculty of Medicine Heidelberg University Hospital Institute for Computational Biomedicine Bioquant Heidelberg Germany The Barcelona Institute of Science and Technology Catalonia Barcelona Spain Catalonia Barcelona Spain Institute for Computational Systems Biology University of Hamburg Germany Earlham Institute Norwich United Kingdom Biological Research Centre Szeged Hungary Heidelberg University Im Neuenheimer Feld 267 Heidelberg69120 Germany Im Neuenheimer Feld 460 Heidelberg69120 Germany Department of Pediatrics Dr. von Hauner Children’s Hospital University Hospital LMU Munich Germany Biological Data Science Lab Department of Computer Engineering Hacettepe University Ankara Turkey Department of Bioinformatics Graduate School of Health Sciences Hacettepe University Ankara Turkey Computational Systems Biomedicine Lab Department of Computational Biology Institut Pasteur Université Paris Cité Paris France Bioinformatics and Biostatistics Hub Institut Pasteur Université Paris Cité Paris France Wellcome Genome Campus Cambridgeshire HinxtonCB10 1SD United Kingdom Open Targets Wellcome Genome Campus Cambridgeshire HinxtonCB10 1SD United Kingdom Laboratory of Systems Pharmacology Harvard Medical School Boston United States Imperial College London London United Kingdom Quadram Institute Bioscience Norwich United Kingdom Proteomics Program Novo Nordisk Foundation Centre for Protein Research University of Copenhagen Copenhagen Denmark Department of Proteomics and Signal Transduction Max Planck Institute of Biochemistry Martinsried Germany Im Neuenheimer Feld 460 Heidelberg69120 Germany Neuherberg Germany Medical Informatics Laboratory University Medicine Greifswald Germany

Standardising the representation of biomedical knowledge among all researchers is an insurmountable task, hindering the effectiveness of many computational methods. To facilitate harmonisation and interoperability despite this fundamental challenge, we propose to standardise the framework of knowledge graph creation instead. We implement this standardisation in BioCypher, a FAIR (findable, accessible, interoperable, reusable) framework to transparently build biomedical knowledge graphs while preserving provenances of the source data. Mapping the knowledge onto biomedical ontologies helps to balance the needs for harmonisation, human and machine readability, and ease of use and accessibility to nonspecialist researchers. We demonstrate the usefulness of this framework on a variety of use cases, from maintenance of task-specific knowledge stores, to interoperability between biomedical domains, to on-demand building of task-specific knowledge graphs for federated learning. BioCypher (https://***) frees up valuable developer time;we encourage further development and usage by the community. © 2022, CC BY-NC-ND.

关键词： Ontology

来源：评论

学校读者我要写书评

暂无评论

The generation challenge programme platform: Semantic standards and workbench for crop science

引用

International Journal of Plant Genomics 2008年第1期2008卷 369601页

作者： Bruskiewich, Richard Senger, Martin Davenport, Guy Ruiz, Manuel Rouard, Mathieu Hazekamp, Tom Takeya, Masaru Doi, Koji Satoh, Kouji Costa, Marcos Simon, Reinhard Balaji, Jayashree Akintunde, Akinnola Mauleon, Ramil Wanchana, Samart Shah, Trushar Anacleto, Mylah Portugal, Arllet Ulat, Victor Jun Thongjuea, Supat Braak, Kyle Ritter, Sebastian Dereeper, Alexis Skofic, Milko Rojas, Edwin Martins, Natalia Pappas, Georgios Alamban, Ryan Almodiel, Roque Barboza, Lord Hendrix Detras, Jeffrey Manansala, Kevin Mendoza, Michael Jonathan Morales, Jeffrey Peralta, Barry Valerio, Rowena Zhang, Yi Gregorio, Sergio Hermocilla, Joseph Echavez, Michael Yap, Jan Michael Farmer, Andrew Schiltz, Gary Lee, Jennifer Casstevens, Terry Jaiswal, Pankaj Meintjes, Ayton Wilkinson, Mark Good, Benjamin Wagner, James Morris, Jane Marshall, David Collins, Anthony Kikuchi, Shoshi Metz, Thomas McLaren, Graham Van Hintum, Theo Crop Research Informatics Laboratory International Rice Research Institute (IRRI) DAPO Box 7777 Metro Manila Philippines Crop Research Informatics Laboratory International Maize and Wheat Improvement Center (CIMMYT) DF 06600 Mexico Apdo. Postal 6-641 Mexico Centre International de Recherche Agronomique Pour le Développement (CIRAD) 34398 Montpellier Cedex 5 Avenue Agropolis France Bioversity International 00057 Maccarese (Fiumicino) Rome Via dei Tre Denari 472/a Italy National Institute for Agrobiological Sciences (NIAS) Tsukuba Ibaraki 305-8602 Kannondai 2-1-2 Japan Empresa Brasileira de Pesquisa Agropecuaria (EMBRAPA) Brasilia DF 70770-900 Parque Estaçao Biologia Final W5 Norte Brazil Centro Internacional de la Papa (CIP) Lima 12 Avenida La Molina 1895 La Molina Peru International Crops Research Institute for the Semi-Arid Tropics Patancheru Andhra Pradesh 502324 India International Center for Agricultural Research in the Dry Areas Aleppo P.O. Box 5466 Syrian Arab Republic National Center for Genetic Engineering and Biotechnology 113 Thailand Science Park Klong Luang Pathumthani 12120 Phahonyothin Road Klong 1 Thailand Institute of Computer Science College of Arts and Sciences University of the Philippines Los Banos Laguna 4031 Philippines Department of Computer Science University of the Philippines Melchor Hall Diliman Quezon City 1101 Philippines National Center for Genome Resources Santa Fe NM 87505 2935 Rodeo Park Drive East United States Scottish Crop Research Institute Invergowrie Dundee DD2 5DA United Kingdom Department of Plant Breeding Cornell University Ithaca NY 14853 United States African Centre for Gene Technologies Lynnwood Ridge 0040 P.O. Box 75011 South Africa Department of Medical Genetics Faculty of Medicine University of British Columbia Vancouver BC V6T 1Z3 Canada School of Computing Science Simon Fraser Universtiy Burnaby BC V5A 1S6 8888 University Drive Canada Bioinformatics Graduate Program Genome Sciences Centre BC

The Generation Challenge programme (GCP) is a global crop research consortium directed toward crop improvement through the application of comparative biology and genetic resources characterization to plant breeding. A key consortium research activity is the development of a GCP crop bioinformatics platform to support GCP research. This platform includes the following: (i) shared, public platform-independent domain models, ontology, and data formats to enable interoperability of data and analysis flows within the platform;(ii) web service and registry technologies to identify, share, and integrate information across diverse, globally dispersed data sources, as well as to access high-performance computational (HPC) facilities for computationally intensive, high-throughput analyses of project data;(iii) platform-specific middleware reference implementations of the domain model integrating a suite of public (largely open-access/-source) databases and software tools into a workbench to facilitate biodiversity analysis, comparative analysis of crop genomic data, and plant breeding decision making.

关键词：

来源：评论

学校读者我要写书评

暂无评论

QU-BraTS: MICCAI BraTS 2020 Challenge on Quantifying Uncertainty in Brain Tumor Segmentation - Analysis of Ranking Scores and Benchmarking Results

arXiv

引用

arXiv 2021年

作者： Mehta, Raghav Filos, Angelos Baid, Ujjwal Sako, Chiharu McKinley, Richard Rebsamen, Michael Dätwyler, Katrin Meier, Raphael Radojewski, Piotr Murugesan, Gowtham Krishnan Nalawade, Sahil Ganesh, Chandan Wagner, Ben Yu, Fang F. Fei, Baowei Madhuranthakam, Ananth J. Maldjian, Joseph A. Daza, Laura Gómez, Catalina Arbeláez, Pablo Dai, Chengliang Wang, Shuo Reynaud, Hadrien Mo, Yuanhan Angelini, Elsa Guo, Yike Bai, Wenjia Banerjee, Subhashis Pei, Linmin Murat, A.K. Rosas-González, Sarahi Zemmoura, Ilyess Tauber, Clovis Vu, Minh H. Nyholm, Tufve Löfstedt, Tommy Ballestar, Laura Mora Vilaplana, Veronica McHugh, Hugh Talou, Gonzalo Maso Wang, Alan Patel, Jay Chang, Ken Hoebel, Katharina Gidwani, Mishka Arun, Nishanth Gupta, Sharut Aggarwal, Mehak Singh, Praveer Gerstner, Elizabeth R. Kalpathy-Cramer, Jayashree Boutry, Nicolas Huard, Alexis Vidyaratne, Lasitha Rahman, Md Monibor Iftekharuddin, Khan M. Chazalon, Joseph Puybareau, Elodie Tochon, Guillaume Ma, Jun Cabezas, Mariano Llado, Xavier Oliver, Arnau Valencia, Liliana Valverde, Sergi Amian, Mehdi Soltaninejad, Mohammadreza Myronenko, Andriy Hatamizadeh, Ali Feng, Xue Dou, Quan Tustison, Nicholas Meyer, Craig Shah, Nisarg A. Talbar, Sanjay Weber, Marc-André Mahajan, Abhishek Jakab, Andras Wiest, Roland Fathallah-Shaykh, Hassan M. Nazeri, Arash Milchenko, Mikhail Marcus, Daniel Kotrotsou, Aikaterini Colen, Rivka Freymann, John Kirby, Justin Davatzikos, Christos Menze, Bjoern Bakas, Spyridon Gal, Yarin Arbel, Tal McGill University MontrealQC Canada Group University of Oxford Oxford United Kingdom University of Pennsylvania PhiladelphiaPA United States Department of Radiology Perelman School of Medicine The University of Pennsylvania PhiladelphiaPA United States Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States University Institute of Diagnostic and Interventional Neuroradiology University of Bern Inselspital Bern University Hospital Bern Switzerland Department of Radiology University of Texas Southwestern Medical Center DallasTX United States Department of Bioengineering University of Texas DallasTX United States Advanced Imaging Research Center University of Texas Southwestern Medical Center DallasTX United States Universidad de los Andes Bogotá Colombia Data Science Institute Imperial College London London United Kingdom NIHR Imperial BRC ITMAT Data Science Group Imperial College London London United Kingdom Department of Brain Sciences Imperial College London London United Kingdom Machine Intelligence Unit Indian Statistical Institute Kolkata India Department of CSE University of Calcutta Kolkata India Department of Information Technology Uppsala University Uppsala Sweden Department of Diagnostic Radiology The University of Pittsburgh Medical Center PittsburghPA United States UMR U1253 iBrain Université de Tours Inserm Tours France Department of Radiation Sciences Umeå University Umeå Sweden Department of Computing Science Umeå University Umeå Sweden Signal Theory and Communications Department Universitat Politècnica de Catalunya Barcelona Tech Barcelona Spain Faculty of Medical and Health Sciences University of Auckland Auckland New Zealand Radiology Department Auckland City Hospital Auckland New Zealand Auckland Bioengineering Institute University of Auckland New Zealand Athinoula A. Martinos Center for Biomedical Imaging Department of Radiology

Deep learning (DL) models have provided state-of-the-art performance in various medical imaging benchmarking challenges, including the Brain Tumor Segmentation (BraTS) challenges. However, the task of focal pathology multi-compartment segmentation (e.g., tumor and lesion sub-regions) is particularly challenging, and potential errors hinder translating DL models into clinical workflows. Quantifying the reliability of DL model predictions in the form of uncertainties could enable clinical review of the most uncertain regions, thereby building trust and paving the way toward clinical translation. Several uncertainty estimation methods have recently been introduced for DL medical image segmentation tasks. Developing scores to evaluate and compare the performance of uncertainty measures will assist the end-user in making more informed decisions. In this study, we explore and evaluate a score developed during the BraTS 2019 and BraTS 2020 task on uncertainty quantification (QU-BraTS) and designed to assess and rank uncertainty estimates for brain tumor multi-compartment segmentation. This score (1) rewards uncertainty estimates that produce high confidence in correct assertions and those that assign low confidence levels at incorrect assertions, and (2) penalizes uncertainty measures that lead to a higher percentage of under-confident correct assertions. We further benchmark the segmentation uncertainties generated by 14 independent participating teams of QU-BraTS 2020, all of which also participated in the main BraTS segmentation task. Overall, our findings confirm the importance and complementary value that uncertainty estimates provide to segmentation algorithms, highlighting the need for uncertainty quantification in medical image analyses. Finally, in favor of transparency and reproducibility, our evaluation code is made publicly available at https://***/RagMeh11/QU-BraTS. © 2021, CC BY.

关键词： Benchmarking

来源：评论

学校读者我要写书评

暂无评论

Metadata Correction: Importance-Performance Analysis of Personal Health Records in Taiwan: A Web-Based Survey

引用

Journal of medical Internet research 2017年第6期19卷 e209页

作者： Hsiao-Hsien Rau Yi-Syuan Wu Chi-Ming Chu Fu-Chung Wang Min-Huei Hsu Chi-Wen Chang Kang-Hua Chen Yen-Liang Lee Senyeong Kao Yu-Lung Chiu Hsyien-Chia Wen Anis Fuad Chien-Yeh Hsu Hung-Wen Chiu Graduate Institute of Biomedical Informatics Taipei Medical University Taipei Taiwan. Administration Department Healthconn Corp Taipei Taiwan. Institute of Medical Informatics Department of Computer Science of Information Engineering National Cheng Kung University Tainan Taiwan. School Of Public Health National Defense Medical Center Taiepi Taiwan. National Health Insurance Administration Ministry of Health and Welfare Taiepi Taiwan. School of Nursing College of Medicine Chang Gung University Linkou Taiwan. Division of Endocrinology Department of Pediatrics Linkou Chang Gung Memorial Hospital Linkou Taiwan. Internet of Things Laboratory Chunghwa Telecom Laboratories TaoYuen Taiwan. School of Health Care Administration Taipei Medical University Taipei Taiwan. Department of Biostatistics Epidemiology and Population Health Faculty of Medicine Universitas Gadjah Mada Yogyakarta Indonesia. Department of Information Management National Taipei University of Nursing and Health Sciences Taipei Taiwan. Master Program in Global Health and Development Taipei Medical University Taipei Taiwan.

[This corrects the article DOI: .].

关键词：

来源：评论

学校读者我要写书评

暂无评论

JS08.6.A A connectivity signature for glioblastoma

引用

Neuro-Oncology 2022年第SUPPLEMENT_2期24卷 ii8-ii9页

作者： Hoffmann, D C Hai, L Wagener, R Mandelbaum, H Xie, R Hausmann, D Dominguez Azorín, D Weil, S Sievers, P Cebulla, G Ito, J Warnken, U Venkataramani, V Ernst, K Reibold, D Will, R Suvà, M L Herold-Mende, C Sahm, F Winkler, F Schlesner, M Wick, W Kessler, T Clinical Cooperation Unit Neurooncology German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Department of Neurology and Neurooncology Program National Center for Tumor Diseases Heidelberg University Hospital Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Bioinformatics and Omics Data Analytics DKFZ Heidelberg Germany Department of Neuropathology Institute of Pathology University Hospital Heidelberg Heidelberg Germany Clinical Cooperation Unit Neuropathology DKTK DKFZ Heidelberg Germany Department of Neuroanatomy Institute for Anatomy and Cell Biology Heidelberg University Heidelberg Germany Hopp Children's Cancer Center at the NCT Heidelberg (KiTZ) Heidelberg Germany Division of Pediatric Neurooncology DKTK DKFZ Heidelberg Germany Genomics and Proteomics Core Facility DKTK DKFZ Heidelberg Germany Broad Institute of Harvard and MIT Cambridge MA United States Department of Pathology and Center for Cancer Research Massachusetts General Hospital and Harvard Medical School Boston MA United States Department of Neurosurgery Heidelberg University Hospital Heidelberg Germany Biomedical Informatics Data Mining and Data Analytics Faculty of Applied Computer Science and Medical Faculty University of Augsburg Augsburg Germany

来源：评论

学校读者我要写书评

暂无评论

Forecasting: theory and practice

arXiv

引用

arXiv 2020年

作者： Petropoulos, Fotios Apiletti, Daniele Assimakopoulos, Vassilios Babai, Mohamed Zied Barrow, Devon K. Taieb, Souhaib Ben Bergmeir, Christoph Bessa, Ricardo J. Bijak, Jakub Boylan, John E. Browell, Jethro Carnevale, Claudio Castle, Jennifer L. Cirillo, Pasquale Clements, Michael P. Cordeiro, Clara Oliveira, Fernando Luiz Cyrino de Baets, Shari Dokumentov, Alexander Ellison, Joanne Fiszeder, Piotr Franses, Philip Hans Frazier, David T. Gilliland, Michael Gönül, M. Sinan Goodwin, Paul Grossi, Luigi Grushka-Cockayne, Yael Guidolin, Mariangela Guidolin, Massimo Gunter, Ulrich Guo, Xiaojia Guseo, Renato Harvey, Nigel Hendry, David F. Hollyman, Ross Januschowski, Tim Jeon, Jooyoung Jose, Victor Richmond R. Kang, Yanfei Koehler, Anne B. Kolassa, Stephan Kourentzes, Nikolaos Leva, Sonia Li, Feng Litsiou, Konstantia Makridakis, Spyros Martin, Gael M. Martinez, Andrew B. Meeran, Sheik Modis, Theodore Nikolopoulos, Konstantinos Önkal, Dilek Paccagnini, Alessia Panagiotelis, Anastasios Panapakidis, Ioannis Pavía, Jose M. Pedio, Manuela Pedregal, Diego J. Pinson, Pierre Ramos, Patrícia Rapach, David E. Reade, J. James Rostami-Tabar, Bahman Rubaszek, Michal Sermpinis, Georgios Shang, Han Lin Spiliotis, Evangelos Syntetos, Aris A. Talagala, Priyanga Dilini Talagala, Thiyanga S. Tashman, Len Thomakos, Dimitrios Thorarinsdottir, Thordis Todini, Ezio Arenas, Juan Ramón Trapero Wang, Xiaoqian Winkler, Robert L. Yusupova, Alisa Ziel, Florian School of Management University of Bath United Kingdom Politecnico di Torino Turin Italy Forecasting and Strategy Unit School of Electrical and Computer Engineering National Technical University of Athens Greece Kedge Business School France Department of Management Birmingham Business School University of Birmingham United Kingdom Belgium Faculty of Information Technology Monash University Melbourne Australia INESC TEC – Institute for Systems and Computer Engineering Technology and Science Porto Portugal Department of Social Statistics and Demography University of Southampton United Kingdom Centre for Marketing Analytics and Forecasting Lancaster University Management School Lancaster University United Kingdom School of Mathematics and Statistics University of Glasgow United Kingdom Department of Mechanical and Industrial Engineering University of Brescia Italy Magdalen College University of Oxford United Kingdom ZHAW School of Management and Law Zurich University of Applied Sciences Switzerland ICMA Centre Henley Business School University of Reading United Kingdom Faculdade de Ciências e Tecnologia Universidade do Algarve Portugal CEAUL Faculdade de Ciências Universidade de Lisboa Portugal Brazil Department of Business Informatics and Operations Management Faculty of Economics and Business Administration Universiteit Gent Belgium Let’s Forecast Australia Faculty of Economic Sciences and Management Nicolaus Copernicus University in Torun Poland Econometric Institute Erasmus School of Economics Rotterdam Netherlands Department of Econometrics and Business Statistics Monash University Melbourne Australia SAS United States Newcastle Business School Northumbria University Newcastle upon Tyne United Kingdom Department of Statistical Sciences University of Padua Italy Darden School of Business University of Virginia United States Finance Department Bocconi University Baffi-CAREFIN Centre Milan Italy Department of Tourism and Service Management MODUL Un

Forecasting has always been at the forefront of decision making and planning. The uncertainty that surrounds the future is both exciting and challenging, with individuals and organisations seeking to minimise risks and maximise utilities. The large number of forecasting applications calls for a diverse set of forecasting methods to tackle real-life challenges. This article provides a non-systematic review of the theory and the practice of forecasting. We provide an overview of a wide range of theoretical, state-of-the-art models, methods, principles, and approaches to prepare, produce, organise, and evaluate forecasts. We then demonstrate how such theoretical concepts are applied in a variety of real-life contexts. We do not claim that this review is an exhaustive list of methods and applications. However, we wish that our encyclopedic presentation will offer a point of reference for the rich work that has been undertaken over the last decades, with some key insights for the future of forecasting theory and practice. Given its encyclopedic nature, the intended mode of reading is non-linear. We offer cross-references to allow the readers to navigate through the various topics. We complement the theoretical concepts and applications covered by large lists of free or open-source software implementations and publicly-available databases. © 2020, CC BY.

关键词： Forecasting

来源：评论

学校读者我要写书评

暂无评论

TOI-2458 b: A mini-Neptune consistent with in situ hot Jupiter formation

arXiv

引用

arXiv 2024年

作者： Šubjak, Jan Gandolfi, Davide Goffo, Elisa Rapetti, David Jankowski, Dawid Mizuki, Toshiyuki Dai, Fei Serrano, Luisa M. Wilson, Thomas G. Goździewski, Krzysztof Nowak, Grzegorz Jenkins, Jon M. Twicken, Joseph D. Winn, Joshua N. Bieryla, Allyson Ciardi, David R. Cochran, William D. Collins, Karen A. Deeg, Hans J. Garcia, Rafael A. Guenther, Eike W. Hatzes, Artie P. Kabath, Petr Korth, Judith Latham, David W. Livingston, John H. Lund, Michael B. Mathur, Savita Narita, Norio Orell-Miquel, Jaume Palle, Enric Persson, Carina M. Redfield, Seth Schwarz, Richard P. Watanabe, David Ziegler, Carl Astronomical Institute Czech Academy of Sciences Fričova 298 Ondřejov251 65 Czech Republic Center for Astrophysics | Harvard & Smithsonian 60 Garden Street CambridgeMA02138 United States Dipartimento di Fisica Universita degli Studi di Torino via Pietro Giuria 1 TorinoI-10125 Italy Thuringer Landessternwarte Tautenburg Sternwarte 5 Tautenburg07778 Germany NASA Ames Research Center Moffett FieldCA94035 United States Research Institute for Advanced Computer Science Universities Space Research Association WashingtonDC20024 United States Institute of Astronomy Faculty of Physics Astronomy and Informatics Nicolaus Copernicus University Grudziadzka 5 Toruń87-100 Poland Astrobiology Center of NINS 2-21-1 Osawa Mitaka Tokyo181-8588 Japan National Astronomical Observatory of Japan 2-21-2 Osawa Mitaka Tokyo181-8588 Japan Institute for Astronomy University of Hawai'i 2680 Woodlawn Drive HonoluluHI96822 United States Department of Physics University of Warwick Gibbet Hill Road CoventryCV4 7AL United Kingdom SETI Institute Mountain ViewCA94043 United States Department of Astrophysical Sciences Princeton University PrincetonNJ08544 United States NASA Exoplanet Science Institute-Caltech/IPAC PasadenaCA91125 United States McDonald Observatory The University of Texas AustinTX United States Center for Planetary Systems Habitability The University of Texas AustinTX United States C. Via Lactea S/N Tenerife La LagunaE-38205 Spain Dept. de Astrofisica Tenerife La LagunaE-38206 Spain Universite Paris-Saclay Universite Paris Cite CEA CNRS AIM Gif-sur-Yvette91191 France Lund Observatory Division of Astrophysics Department of Physics Lund University Box 118 Lund22100 Sweden Astronomical Science Program Graduate University for Advanced Studies SOKENDAI 2-21-1 Osawa Mitaka Tokyo181-8588 Japan Komaba Institute for Science The University of Tokyo 3-8-1 Komaba Meguro Tokyo153-8902 Japan Chalmers University of Technology Departmen

We report on the discovery and spectroscopic confirmation of TOI-2458 b, a transiting mini-Neptune around an F-type star leaving the mainsequence with a mass of M*= 1.05 ± 0.03Mo, a radius of R*= 1.31 ± 0.03 Ro, an effective temperature of Teff = 6005 ± 50 K, and a metallicity of -0.10 ± 0.05 dex. By combining TESS photometry with high-resolution spectra acquired with the HARPS spectrograph, we found that the transiting planet has an orbital period of ∼3.74 days, a mass of Mp = 13.31±0.99M⊕ and a radius of Rp = 2.83±0.20 R⊕. The host star TOI-2458 shows a short activity cycle of ∼54 days revealed in the HARPS S-index and Hα times series. We took the opportunity to investigate other F stars showing activity cycle periods comparable to that of TOI-2458 and found that they have shorter rotation periods than would be expected based on the gyrochronology predictions. In addition, we determined TOI-2458's stellar inclination angle to be i*= 10.6+13.3 -10.6 degrees. We discuss that both phenomena (fast stellar rotation and planet orbit inclination) could be explained by in situ formation of a hot Jupiter interior to TOI-2458 b. It is plausible that this hot Jupiter was recently engulfed by the star. Analysis of HARPS spectra has identified the presence of another planet with a period of P = 16.55 ± 0.06 days and a minimum mass of Mp sin i = 10.22 ± 1.90M⊕. Using dynamical stability analysis, we constrained the mass of this planet to the range Mc (10, 25)M⊕. © 2024, CC BY.

关键词： Stars

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：