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Data Mining: The Classification Method to Predict the Types of Motorcycle Spare Parts to be Restocked

IOP Conference Series: Materials science and engineering 2019年第2期662卷

作者： S L B Ginting Y R Ginting Sutono A Rakhman Computer System Study Program Faculty of Engineering and Computer Science Universitas Komputer Indonesia Jl. Dipati Ukur 112-116 Bandung 40132 Indonesia Department of Mechanical Engineering Universitas Riau Kampus Bina Widya KM 12 5 Simpang Baru Pekanbaru 28293 Indonesia

The research intends to create an application which is able to analyse sales data in a motorcycle company to predict the types of spare parts which should be stocked. This prediction is crucial since problems are often encountered while restocking. For instance, when there have been some imprecisions occurring in deciding regarding the types of spare parts to restock, the spare parts accumulate. It can cause inefficiency in terms of storage, the products quality deteriorates due to having been stored for too long, and sometimes the best-selling products are not available in the warehouse. This application is developed with Naïve Bayes Classifier (NBC) method which has a high accuracy in predicting future occurrences. This method works by calculating the probability value in each attribute class and determining the optimal probability value. From the test results, 4500 training data with 200 sample test data has 90% similarity with the results of the restock decision without application. For 500 test data, the similarity was 96%. It is proven that this method has a high accuracy so that it can help the decision makers solved the company problem in predicting the types of motorcycle parts to be restocked.

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Monitoring electrical energy in electronic energy audits through internet of things technology

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Journal of Physics: Conference Series 2019年第7期1402卷

作者： M P T Sulistyanto K B Pranata A N Afandi S Sendari I Sulistiyowati Informatics Study Program Faculty of Science and Technology Universitas Kanjuruhan Malang Jl. S. Supriadi No. 48 Malang Jawa Timur Indonesia Physics Education Study Program Faculty of Science and Technology Universitas Kanjuruhan Malang Jl. S. Supriadi No. 48 Malang Jawa Timur Indonesia Department of Electrical Engineering Faculty of Engineering Universitas Negeri Malang Teknik Elektro Universitas Muhammadiyah Sidoarjo Jl. Raya Gelam 250 Candi Sidoarjo Jawa Timur Indonesia

Energy conservation, especially electricity, can be done by conducting an energy audit. Energy audit activities can analyse and find energy-saving opportunities from energy use. This study developed a prototype of a wireless electrical energy monitoring system on a laboratory scale to monitor the use of electrical energy from both electrical equipment using a microcontroller as a sensor node. These nodes have installed several sensors, namely the current sensor, humidity sensor, temperature sensor and light sensor. The protocol used in communication between nodes and servers is the HTTP protocol in the Internet of Things design that can communicate using internet network intermediaries. Data on the server can be monitored in real time using the application on the client side.

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The repertoire of mutational signatures in human cancer (vol 578, pg 94, 2020)

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NATURE 2023年第7948期614卷 E41-E41页

作者： Alexandrov, Ludmil B. Kim, Jaegil Haradhvala, Nicholas J. Huang, Mi Ni Ng, Alvin Wei Tian Wu, Yang Boot, Arnoud Covington, Kyle R. Gordenin, Dmitry A. Bergstrom, Erik N. Islam, S. M. Ashiqul Lopez-Bigas, Nuria Klimczak, Leszek J. McPherson, John R. Morganella, Sandro Sabarinathan, Radhakrishnan Wheeler, David A. Mustonen, Ville Getz, Gad Rozen, Steven G. Stratton, Michael R. Department of Cellular and Molecular Medicine Department of Bioengineering Moores Cancer Center University of California San Diego CA USA Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Department of Cellular and Molecular Medicine and Department of Bioengineering University of California San Diego La Jolla CA USA UC San Diego Moores Cancer Center San Diego CA USA University of California San Diego San Diego CA USA Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Massachusetts General Hospital Boston MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Laboratory for Medical Science Mathematics RIKEN Center for Integrative Medical Sciences Yokohama Japan Computational Biology Program Ontario Institute for Cancer Research Toronto ON Canada Programme in Cancer & Stem Cell Biology Duke-NUS Medical School Singapore Singapore Centre for Computational Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Duke-NUS Medical School Singapore Singapore Programme in Cancer and Stem Cell Biology Centre for Computational Biology Duke-NUS Medical School Singapore Singapore SingHealth Duke-NUS Institute of Precision Medicine National Heart Centre Singapore Singapore Singapore Cancer Science Institute of Singapore National University of Singapore Singapore Singapore Institute of Molecular and Cell Biology Singapore Singapore Laboratory of Cancer Epigenome Division of Medical Science National Cancer Centre Singapore Singapore Singapore Duke-NUS Medical School Singapore Singapore Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Dan L. Duncan Cancer Center Baylor College of Medicine Houston TX USA Department of Molecular and Human Genetics Baylor College of Medicine Houston TX USA Genome Integrity and Structural Biology Laboratory National Ins

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Retracted: LUC Algorithm in Visual Cryptography

Retracted: LUC Algorithm in Visual Cryptography

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2018 Workshop on Multidisciplinary and Its Applications: Applied Mathematics, computer science, Information Systems, and Information Technology, WMA-Mathcomtech 2018

作者： Achmad Daengs, G.S. Ratnadewi Alpha, Christian Dio Napitupulu, Darmawan Nurdiyanto, Heri Kurniasih, Nuning Hasibuan, Abdurrozaq Daengs, Achmad Manurung, Rosida Tiurma Mulyaningsih, Indrya Rahim, Robbi Sugianto, Castaka Agus Abdullah, Dahlan Department of Electrical Engineering Universitas Kristen Maranatha Bandung Indonesia Research Center for Quality System and Testing Technology Indonesian Institute of Sciences Banten Indonesia STMIK Dharma Wacana Indonesia Faculty of Communication Sciences Library and Information Science Program Universitas Padjadjaran Bandung Indonesia Universitas Islam Sumatera Utara Indonesia University of 45 Surabaya Indonesia Graduate Program in Scientific Psychology Universitas Kristen Maranatha Bandung Indonesia Department of Education Institut Agama Islam Negeri Syekh Nurjati Cirebon Indonesia School of Computer and Communication Engineering Universiti Malaysia Perlis Kubang Gajah Malaysia Politeknik TEDC Bandung Indonesia Department of Informatics Universitas Malikussaleh Aceh Utara Indonesia

Nowadays, messaging technology in digital data form more often used and not less messages that confidentially wanted. Then it should be modified so that can be understood only by the sender and the intended recipients. All of this system can be realization by using cryptography. LUC algorithms are introduced by Smith and Lennon in 1993. LUC algorithm is an algorithm that based on the use of Lucas sequence (specific arithmetic operations derived from Lucas row) that rarely used to enhance the security of the messages. In this research, LUC algorithm is combined with visual cryptography to process the encryption and the description of a colored image. Four different images were used in the trial here. The performance of the system is assessed using Structural similarity (SSIM) which has an assessment similar to human eye. If the image quality is the same as the original image, then the SSIM value is one. Whereas if the quality of decryption image is very different from the original image then the value of SSIM is zero. © Published under licence by IOP Publishing Ltd.

关键词： Information systems

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

arXiv

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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

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Federated Learning Enables Big Data for Rare Cancer Boundary Detection

arXiv

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arXiv 2022年

作者： Pati, Sarthak Baid, Ujjwal Edwards, Brandon Sheller, Micah Wang, Shih-Han Reina, G. Anthony Foley, Patrick Gruzdev, Alexey Karkada, Deepthi Davatzikos, Christos Sako, Chiharu Ghodasara, Satyam Bilello, Michel Mohan, Suyash Vollmuth, Philipp Brugnara, Gianluca Preetha, Chandrakanth J. Sahm, Felix Maier-Hein, Klaus Zenk, Maximilian Bendszus, Martin Wick, Wolfgang Calabrese, Evan Rudie, Jeffrey Villanueva-Meyer, Javier Cha, Soonmee Ingalhalikar, Madhura Jadhav, Manali Pandey, Umang Saini, Jitender Garrett, John Larson, Matthew Jeraj, Robert Currie, Stuart Frood, Russell Fatania, Kavi Huang, Raymond Y. Chang, Ken Balana, Carmen Capellades, Jaume Puig, Josep Trenkler, Johannes Pichler, Josef Necker, Georg Haunschmidt, Andreas Meckel, Stephan Shukla, Gaurav Liem, Spencer Alexander, Gregory S. Lombardo, Joseph Palmer, Joshua D. Flanders, Adam E. Dicker, Adam P. Sair, Haris I. Jones, Craig K. Venkataraman, Archana Jiang, Meirui So, Tiffany Y. Chen, Cheng Heng, Pheng Ann Dou, Qi Kozubek, Michal Lux, Filip Michálek, Jan Matula, Petr Keřkovský, Miloš Kopřivová, Tereza Dostál, Marek Vybíhal, Václav Vogelbaum, Michael A. Mitchell, J. Ross Farinhas, Joaquim Maldjian, Joseph A. Yogananda, Chandan Ganesh Bangalore Pinho, Marco C. Reddy, Divya Holcomb, James Wagner, Benjamin C. Ellingson, Benjamin M. Cloughesy, Timothy F. Raymond, Catalina Oughourlian, Talia Hagiwara, Akifumi Wang, Chencai To, Minh-Son Bhardwaj, Sargam Chong, Chee Agzarian, Marc Falcão, Alexandre Xavier Martins, Samuel B. Teixeira, Bernardo C.A. Sprenger, Flávia Menotti, David Lucio, Diego R. LaMontagne, Pamela Marcus, Daniel Wiestler, Benedikt Kofler, Florian Ezhov, Ivan Metz, Marie Jain, Rajan Lee, Matthew Lui, Yvonne W. McKinley, Richard Slotboom, Johannes Radojewski, Piotr Meier, Raphael Wiest, Roland Derrick, Murcia Fu, Eric Haas, Rourke Thompson, John Ormond, David Ryan Badve, Chaitra Sloan, Andrew E. Vadmal, Vachan Waite, Kristin Colen, Rivka R. Pei, Linmin Ak, Murat Srinivasan, Ashok Bapuraj, J. Rajiv Rao, Arvind Wang, Nicholas Yoshiaki, Ota Moritani, Tos University of Pennsylvania PhiladelphiaPA United States Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Pathology Laboratory Medicine Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University of Munich Bavaria Munich Germany Intel Corporation Santa ClaraCA United States Department of Quantitative Biomedicine University of Zurich Zurich Switzerland Department of Neuroradiology Heidelberg University Hospital Heidelberg Germany Heidelberg Germany Department of Neuropathology Heidelberg University Hospital Heidelberg Germany Division of Medical Image Computing German Cancer Research Center Heidelberg Germany Neurology Clinic Heidelberg University Hospital Heidelberg Germany Department of Radiology & Biomedical Imaging University of California San Francisco San FranciscoCA United States Symbiosis Center for Medical Image Analysis Symbiosis International University Maharashtra Pune India Department of Neuroimaging and Interventional Radiology National Institute of Mental Health and Neurosciences Karnataka Bangalore India Department of Radiology School of Medicine and Public Health University of Wisconsin MadisonWI United States Department of Medical Physics School of Medicine and Public Health University of Wisconsin MadisonWI United States Department of Neuroradiology Clinical Neuroscience Center University Hospital Zurich University of Zurich Zurich Switzerland Leeds Teaching Hospitals Trust Department of Radiology Leeds United Kingdom Department of Radiology Brigham and Women's Hospital Harvard Medical School BostonMA United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital CharlestownMA United States Catalan Institute of Oncology Badalona Spain Consorci MAR Parc de Salut de Barcelona Catalonia Spain Josep Trueta University Hospital Girona Spain

Although machine learning (ML) has shown promise in numerous domains, there are concerns about generalizability to out-of-sample data. This is currently addressed by centrally sharing ample, and importantly diverse, data from multiple sites. However, such centralization is challenging to scale (or even not feasible) due to various limitations. Federated ML (FL) provides an alternative to train accurate and generalizable ML models, by only sharing numerical model updates. Here we present findings from the largest FL study to-date, involving data from 71 healthcare institutions across 6 continents, to generate an automatic tumor boundary detector for the rare disease of glioblastoma, utilizing the largest dataset of such patients ever used in the literature (25,256 MRI scans from 6,314 patients). We demonstrate a 33% improvement over a publicly trained model to delineate the surgically targetable tumor, and 23% improvement over the tumor's entire extent. We anticipate our study to: 1) enable more studies in healthcare informed by large and diverse data, ensuring meaningful results for rare diseases and underrepresented populations, 2) facilitate further quantitative analyses for glioblastoma via performance optimization of our consensus model for eventual public release, and 3) demonstrate the effectiveness of FL at such scale and task complexity as a paradigm shift for multi-site collaborations, alleviating the need for data sharing. © 2022, CC BY.

关键词： Tumors

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Genomic basis for RNA alterations in cancer (vol 578, pg 129, 2020)

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NATURE 2023年第7948期614卷 E37-E37页

作者： Calabrese, Claudia Davidson, Natalie R. Demircioglu, Deniz Fonseca, Nuno A. He, Yao Lehmann, Kjong-Van Liu, Fenglin Shiraishi, Yuichi Soulette, Cameron M. Urban, Lara Greger, Liliana Li, Siliang Liu, Dongbing Perry, Marc D. Xiang, Qian Zhang, Fan Zhang, Junjun Bailey, Peter Erkek, Serap Hoadley, Katherine A. Hou, Yong Huska, Matthew R. Kilpinen, Helena Korbel, Jan O. Marin, Maximillian G. Markowski, Julia Nandi, Tannistha Pan-Hammarstrom, Qiang Pedamallu, Chandra Sekhar Siebert, Reiner Stark, Stefan G. Su, Hong Tan, Patrick Waszak, Sebastian M. Yung, Christina Zhu, Shida Awadalla, Philip Creighton, Chad J. Meyerson, Matthew Ouellette, B. F. Francis Wu, Kui Yang, Huanming Brazma, Alvis Brooks, Angela N. Goke, Jonathan Ratsch, Gunnar Schwarz, Roland F. Stegle, Oliver Zhang, Zemin European Molecular Biology Laboratory European Bioinformatics Institute Hinxton UK European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany CIBIO/InBIO - Research Center in Biodiversity and Genetic Resources Universidade do Porto Vairão Portugal Berlin Institute for Medical Systems Biology Max Delbruck Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) partner site Berlin Germany German Cancer Research Center (DKFZ) Heidelberg Germany Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine Berlin Germany German Cancer Consortium (DKTK) Partner site Berlin Berlin Germany European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Division of Computational Genomics and Systems Genetics German Cancer Research Center (DKFZ) Heidelberg Germany ETH Zurich Zurich Switzerland Memorial Sloan Kettering Cancer Center New York NY USA Weill Cornell Medical College New York NY USA SIB Swiss Institute of Bioinformatics Lausanne Switzerland University Hospital Zurich Zurich Switzerland Computational Biology Center Memorial Sloan Kettering Cancer Center New York NY USA Department of Biology ETH Zurich Zürich Switzerland Department of Computer Science ETH Zurich Zurich Switzerland Korea University Seoul South Korea Computational and Systems Biology Program Memorial Sloan Kettering Cancer Center 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 New York NY USA National University of Singapore Singapore Singapore Genome Institute of Singapore Singapore Singapore Computational and Systems Biology Genome Institute of Singap

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The evolutionary history of 2,658 cancers (vol 578, pg 122, 2020)

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NATURE 2023年第7948期614卷 E42-E42页

作者： Gerstung, Moritz Jolly, Clemency Leshchiner, Ignaty Dentro, Stefan C. Gonzalez, Santiago Rosebrock, Daniel Mitchell, Thomas J. Rubanova, Yulia Anur, Pavana Yu, Kaixian Tarabichi, Maxime Deshwar, Amit Wintersinger, Jeff Kleinheinz, Kortine Vazquez-Garcia, Ignacio Haase, Kerstin Jerman, Lara Sengupta, Subhajit Macintyre, Geoff Malikic, Salem Donmez, Nilgun Livitz, Dimitri G. Cmero, Marek Demeulemeester, Jonas Schumacher, Steven Fan, Yu Yao, Xiaotong Lee, Juhee Schlesner, Matthias Boutros, Paul C. Bowtell, David D. Zhu, Hongtu Getz, Gad Imielinski, Marcin Beroukhim, Rameen Sahinalp, S. Cenk Ji, Yuan Peifer, Martin Markowetz, Florian Mustonen, Ville Yuan, Ke Wang, Wenyi Morris, Quaid D. Spellman, Paul T. Wedge, David C. Van Loo, Peter European Molecular Biology Laboratory European Bioinformatics Institute (EMBL-EBI) Cambridge UK European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany Wellcome Sanger Institute Cambridge UK Genome Biology Unit European Molecular Biology Laboratory (EMBL) Heidelberg Germany University of Ljubljana Ljubljana Slovenia The Francis Crick Institute London UK Big Data Institute University of Oxford Oxford UK Wellcome Sanger Institute Wellcome Genome Campus Hinxton UK Big Data Institute Li Ka Shing Centre University of Oxford Oxford UK University of Cambridge Cambridge UK Cambridge University Hospitals NHS Foundation Trust Cambridge UK Department of Applied Mathematics and Theoretical Physics Centre for Mathematical Sciences University of Cambridge Cambridge UK Department of Epidemiology and Biostatistics Memorial Sloan Kettering Cancer Center New York NY USA Department of Statistics Columbia University New York NY USA Department of Haematology University of Cambridge Cambridge UK University of Leuven Leuven Belgium Broad Institute of MIT and Harvard Cambridge MA USA Center for Cancer Research Massachusetts General Hospital Charlestown MA USA Department of Pathology Massachusetts General Hospital Boston MA USA Harvard Medical School Boston MA USA Center for Cancer Research Massachusetts General Hospital Boston MA USA Dana-Farber Cancer Institute Boston MA USA Department of Medical Oncology Dana-Farber Cancer Institute Boston MA USA Department of Cancer Biology Dana-Farber Cancer Institute Boston MA USA Oxford NIHR Biomedical Research Centre Oxford UK Oxford NIHR Biomedical Research Centre University of Oxford Oxford UK University of Toronto Toronto Ontario Canada Vector Institute Toronto Ontario Canada Vector Institute Toronto ON Canada Department of Computer Science University of Toronto Toronto ON Canada Ontario Institute for Cancer Research Toronto Ontario Canada University of California Los Angeles

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

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NATURE GENETICS 2023年第3期55卷 519-520页

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

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

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

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FinnGen provides genetic insights from a well-phenotyped isolated population (vol 613, pg 508, 2023)

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NATURE 2023年第7952期615卷 E19-E19页

作者： Kurki, Mitja I. Karjalainen, Juha Palta, Priit Sipila, Timo P. Kristiansson, Kati Donner, Kati M. Reeve, Mary P. Laivuori, Hannele Aavikko, Mervi Kaunisto, Mari A. Loukola, Anu Lahtela, Elisa Mattsson, Hannele Laiho, Paivi Parolo, Pietro Della Briotta Lehisto, Arto A. Kanai, Masahiro Mars, Nina Ramo, Joel Kiiskinen, Tuomo Heyne, Henrike O. Veerapen, Kumar Rueger, Sina Lemmela, Susanna Zhou, Wei Ruotsalainen, Sanni Parn, Kalle Hiekkalinna, Tero Koskelainen, Sami Paajanen, Teemu Llorens, Vincent Gracia-Tabuenca, Javier Siirtola, Harri Reis, Kadri Elnahas, Abdelrahman G. Sun, Benjamin Foley, Christopher N. Aalto-Setala, Katriina Alasoo, Kaur Arvas, Mikko Auro, Kirsi Biswas, Shameek Bizaki-Vallaskangas, Argyro Carpen, Olli Chen, Chia-Yen Dada, Oluwaseun A. Ding, Zhihao Ehm, Margaret G. Eklund, Kari Farkkila, Martti Finucane, Hilary Ganna, Andrea Ghazal, Awaisa Graham, Robert R. Green, Eric M. Hakanen, Antti Hautalahti, Marco Hedman, Asa K. Hiltunen, Mikko Hinttala, Reetta Hovatta, Iiris Hu, Xinli Huertas-Vazquez, Adriana Huilaja, Laura Hunkapiller, Julie Jacob, Howard Jensen, Jan-Nygaard Joensuu, Heikki John, Sally Julkunen, Valtteri Jung, Marc Junttila, Juhani Kaarniranta, Kai Kahonen, Mika Kajanne, Risto Kallio, Lila Kalviainen, Reetta Kaprio, Jaakko Kerimov, Nurlan Kettunen, Johannes Kilpelainen, Elina Kilpi, Terhi Klinger, Katherine Kosma, Veli-Matti Kuopio, Teijo Kurra, Venla Laisk, Triin Laukkanen, Jari Lawless, Nathan Liu, Aoxing Longerich, Simonne Magi, Reedik Makela, Johanna Makitie, Antti Malarstig, Anders Mannermaa, Arto Maranville, Joseph Matakidou, Athena Meretoja, Tuomo Mozaffari, Sahar V. Niemi, Mari E. K. Niemi, Marianna Niiranen, Teemu O'Donnell, Christopher J. Obeidat, Ma'En Okafo, George Ollila, Hanna M. Palomaki, Antti Palotie, Tuula Partanen, Jukka Paul, Dirk S. Pelkonen, Margit Pendergrass, Rion K. Petrovski, Slave Pitkaranta, Anne Platt, Adam Pulford, David Punkka, Eero Pussinen, Pirkko Raghavan, Neha Rahimov, Fedik Rajpal, Deepak Renaud, Nicole A. Riley-Gillis, Bridget Rodosthenous, Rodostheni Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Medical and Clinical Genetics University of Helsinki and Helsinki University Hospital Helsinki Finland Department of Obstetrics and Gynecology Tampere University Hospital Tampere Finland Faculty of Medicine and Health Technology Center for Child Adolescent and Maternal Health University of Tampere Tampere Finland Department of Biomedical Informatics Harvard Medical School Boston MA USA Digital Health Center Hasso Plattner Institute for Digital Engineering University of Potsdam Potsdam Potsdam Germany Hasso Plattner Institute for Digital Health at Mount Sinai Department of Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York NY USA Finnish Institute for Health and Welfare (THL) Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Anesthesia Critical Care and Pain Medicine Massachusetts General Hospital Boston MA USA Abdominal Center Endocrinology Helsinki University Hospital Helsinki Finland Folkhalsan Research Center Helsinki Finland Research Program of Clinical and Molecular Metabolism University of Helsinki Helsinki Finland Biocenter Oulu University of Oulu Oulu Finland Computational Medicine Center for Life Course Health Research Faculty of Medicine University of Oulu Oulu Finland Turku University Hospital and University of Turku Turku Finland University of Turku Turku Finland Helsinki Biobank University of Helsinki and Hospital District of Helsinki and Uusimaa Helsinki Finland TAUCHI Research Center

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