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A structural haplotype in the 17q21.31 MAPT region is associated with increased risk for chronic traumatic encephalopathy endophenotypes

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Cell Reports Medicine 2025年第5期6卷 102084-102084页

作者： Han, Xudong Zhang, Yichi Petrosky, Jillian N. Bald, Sarah Sherva, Richard M. Labadorf, Adam Cherry, Jonathan D. Chung, Jaeyoon Farrell, Kurt Abdolmohammadi, Bobak Durape, Shruti Martin, Brett M. Palmisano, Joseph N. Farrell, John J. Alvarez, Victor E. Huber, Bertrand R. Dwyer, Brigid Daneshvar, Daniel H. Jun, Gyungah R. Lunetta, Kathryn L. Goldstein, Lee E. Katz, Douglas I. Cantu, Robert C. Shenton, Martha E. Cummings, Jeffrey L. Reiman, Eric M. Stern, Robert A. Alosco, Michael L. Tripodis, Yorghos Farrer, Lindsay A. Stein, Thor D. Crary, John F. McKee, Ann C. Mez, Jesse Bioinformatics Graduate Program Boston University Boston MA United States Section of Biomedical Genetics Department of Medicine Boston University Chobanian & Avedisian School of Medicine Boston MA United States Department of Neurology Boston University Chobanian & Avedisian School of Medicine Boston MA United States Boston University Alzheimer's Disease Research Center Boston University Chobanian & Avedisian School of Medicine Boston MA United States Boston VA Healthcare System Boston MA United States Boston University Chronic Traumatic Encephalopathy Center Boston University Boston MA United States Department of Pathology and Laboratory Medicine Boston University Chobanian & Avedisian School of Medicine Boston MA United States Departments of Pathology Neuroscience and Artificial Intelligence & Human Health Neuropathology Brain Bank & Research CoRE Friedman Brain Institute Ronald M. Loeb Center for Alzheimer's Disease Icahn School of Medicine at Mount Sinai New York NY United States Biostatistics and Epidemiology Data Analytics Center Boston University School of Public Health Boston MA United States Bedford VA Healthcare System Bedford MA United States Braintree Rehabilitation Hospital Braintree MA United States Department of Physical Medicine and Rehabilitation Harvard Medical School Boston MA United States Department of Rehabilitation and Human Performance Brain Injury Research Center Icahn School of Medicine at Mount Sinai New York NY United States Department of Neurology Icahn School of Medicine at Mount Sinai New York NY United States Department of Biostatistics Boston University School of Public Health Boston MA United States Department of Ophthalmology Boston University Chobanian & Avedisian School of Medicine Boston MA United States Departments of Biomedical Electrical & Computer Engineering Boston University College of Engineering Boston MA United States Departments of Radiology and Psychiatry Boston University Chobanian & Avedisia

Chronic traumatic encephalopathy (CTE) is a neurodegenerative tauopathy associated with repetitive head impact (RHI) exposure. Genetic variation in the 17q21.31 region, containing microtubule-associated protein tau (MAPT), has been implicated in tauopathies but has not been investigated in CTE. The region includes a megabase-long inversion (H1/H2) and copy-number variations, including α, β, and γ segments, which can be characterized as nine segregating structural haplotypes. We leveraged array SNP data and a reference panel across the 17q21.31 region to impute structural haplotypes and test their association with CTE endophenotypes in 447 European ancestry brain donors with RHI exposure. The H1β1γ1 haplotype was significantly associated with dementia and semi-quantitative tau burden in multiple cortical and medial temporal regions commonly affected in CTE. H1β1γ1 differential expression analyses in dorsolateral frontal cortex implicated cis-acting genes and inflammatory pathways. Taken together, the H1β1γ1 haplotype may help explain CTE heterogeneity among those with similar RHI exposure. © 2025 The Authors

关键词： 17q21.31 chronic traumatic encephalopathy dementia differential gene expression immune system MAPT repetitive head impacts structural haplotypes tauopathy traumatic brain injury

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

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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

Predictable and precise template-free CRISPR editing of pathogenic variants (vol 563, pg 646, 2018)

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NATURE 2019年第7746期567卷 E1-E2页

作者： Shen, Max W. Arbab, Mandana Hsu, Jonathan Y. Worstell, Daniel Culbertson, Sannie J. Krabbe, Olga Cassa, Christopher A. Liu, David R. Gifford, David K. Sherwood, Richard I. Computational and Systems Biology Program Massachusetts Institute of Technology Cambridge USA Computer Science and Artificial Intelligence Laboratory Massachusetts Institute of Technology Cambridge USA Merkin Institute of Transformative Technologies in Healthcare Broad Institute of Harvard and MIT Cambridge USA Department of Chemistry and Chemical Biology Harvard University Cambridge USA Howard Hughes Medical Institute Harvard University Cambridge USA Department of Biological Engineering Massachusetts Institute of Technology Cambridge USA Molecular Pathology Unit Center for Cancer Research and Center for Computational and Integrative Biology Massachusetts General Hospital Charlestown USA Division of Genetics Department of Medicine Brigham and Women’s Hospital and Harvard Medical School Boston USA Hubrecht Institute for Developmental Biology and Stem Cell Research Royal Netherlands Academy of Arts and Sciences (KNAW) Utrecht The Netherlands Broad Institute of MIT and Harvard Cambridge USA Department of Electrical Engineering and Computer Science Massachusetts Institute of Technology Cambridge USA

In this Article, a data processing error affected Fig. 3e and Extended Data Table 2; these errors have been corrected online.

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The Brain Tumor Segmentation (BraTS-METS) Challenge 2023: Brain Metastasis Segmentation on Pre-treatment MRI

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arXiv 2023年

作者： Moawad, Ahmed W. Janas, Anastasia Baid, Ujjwal Ramakrishnan, Divya Saluja, Rachit Ashraf, Nader Jekel, Leon Amiruddin, Raisa Adewole, Maruf Albrecht, Jake Anazodo, Udunna Aneja, Sanjay Anwar, Syed Muhammad Bergquist, Timothy Calabrese, Evan Chiang, Veronica Chung, Verena Conte, Gian Marco Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Iglesias, Juan Eugenio Jiang, Zhifan Johanson, Elaine Kazerooni, Anahita Fathi Kofler, Florian Krantchev, Kiril LaBella, Dominic Van Leemput, Koen Li, Hongwei Bran Linguraru, Marius George Link, Katherine E. Liu, Xinyang Maleki, Nazanin Meier, Zeke Menze, Bjoern H. Moy, Harrison Osenberg, Klara Piraud, Marie Reitman, Zachary Shinohara, Russel Takeshi Tahon, Nourel hoda Nada, Ayman Velichko, Yuri S. Wang, Chunhao Wiestler, Benedikt Wiggins, Walter Shafique, Umber Willms, Klara Avesta, Arman Bousabarah, Khaled Chakrabarty, Satrajit Gennaro, Nicolo Holler, Wolfgang Kaur, Manpreet LaMontagne, Pamela Lin, MingDe Lost, Jan Marcus, Daniel S. Maresca, Ryan Merkaj, Sarah Nada, Ayaman Pedersen, Gabriel Cassinelli von Reppert, Marc Sotiras, Aristeidis Teytelboym, Oleg Tillmans, Niklas Westerhoff, Malte Youssef, Ayda Godfrey, Devon Floyd, Scott Rauschecker, Andreas Villanueva-Meyer, Javier Pflüger, Irada Cho, Jaeyoung Bendszus, Martin Brugnara, Gianluca Cramer, Justin Perez-Carillo, Gloria Guzman J. Johnson, Derek R. Kam, Anthony Kwan, Benjamin Yin Ming Lai, Lillian Lall, Neil U. Memon, Fatima Patro, Satya Narayana Petrovic, Bojan So, Tiffany Y. Thompson, Gerard Wu, Lei Schrickel, E. Brooke Bansal, Anu Barkhof, Frederik Besada, Cristina Chu, Sammy Druzgal, Jason Dusoi, Alexandru Farage, Luciano Feltrin, Fabricio Fong, Amy Fung, Steve H. Gray, R. Ian Ikuta, Ichiro Iv, Michael Postma, Alida A. Mahajan, Amit Joyner, David Krumpelman, Chase Letourneau-Guillon, Laurent Lincoln, Christie M. Maros, Mate E. Miller, Elka Morón, Fanny Nimchinsky, Esther A. Ozsarlak, Ozkan Patel, Uresh Rohatgi, Saurabh Saha, Atin Sayah, Anousheh Schwartz, Eric D. Shih, Robert Shiroishi, Mark Trinity health Mid Atlantic Hosiptals DarbyPA United States Department of Radiology and Biomedical Imaging Yale School of Medicine New HavenCT United States Division of Computational Pathology Department of Pathology and Laboratory Medicine School of Medicine Indiana University IndianapolisIN United States Department of Electical and Computer Engineering Cornell University Cornell Tech New YorkNY United States Department of Radiology Weill Cornell Medicine New YorkNY United States ImagineQuant Children’s Hospital of Philadelphia PhiladelphiaPA United States College of Medicine Alfaisal University Riyadh Saudi Arabia DKFZ Division of Translational Neurooncology The WTZ German Cancer Consortium DKTK Partner Site University Hospital Essen Essen Germany Medical Artificial Intelligence Lab Crestview Radiology Lagos Nigeria Sage Bionetworks SeattleWA United States Montreal Neurological Institute McGill University Montreal Canada lab Crestview Radiology Lagos Nigeria Department of Therapeutic Radiology Yale School of Medicine New HavenCT United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Radiology Mayo Clinic RochesterMN United States Department of Radiology Duke University Medical Center DurhamNC United States Department of Neurosurgery Yale School of Medicine New HavenCT United States Center for Global Health Perelman School of Medicine University of Pennsylvania PA United States Department of Informatics Technical University Munich Germany Children’s Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Athinoula A. Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Children’s National Hospital WashingtonDC United States PrecisionFDA U.S. Food and Drug Administration S

The translation of AI-generated brain metastases (BM) segmentation into clinical practice relies heavily on diverse, high-quality annotated medical imaging datasets. The BraTS-METS 2023 challenge has gained momentum for testing and benchmarking algorithms using rigorously annotated internationally compiled real-world datasets. This study presents the results of the segmentation challenge and characterizes the challenging cases that impacted the performance of the winning algorithms. Untreated brain metastases on standard anatomic MRI sequences (T1, T2, FLAIR, T1PG) from eight contributed international datasets were annotated in stepwise method: published UNET algorithms, student, neuroradiologist, final approver neuroradiologist. Segmentations were ranked based on lesion-wise Dice and Hausdorff distance (HD95) scores. False positives (FP) and false negatives (FN) were rigorously penalized, receiving a score of 0 for Dice and a fixed penalty of 374 for HD95. The mean scores for the teams were calculated. Eight datasets comprising 1303 studies were annotated, with 402 studies (3076 lesions) released on Synapse as publicly available datasets to challenge competitors. Additionally, 31 studies (139 lesions) were held out for validation, and 59 studies (218 lesions) were used for testing. Segmentation accuracy was measured as rank across subjects, with the winning team achieving a LesionWise mean score of 7.9. The Dice score for the winning team was 0.65 ± 0.25. Common errors among the leading teams included false negatives for small lesions and misregistration of masks in space. The Dice scores and lesion detection rates of all algorithms diminished with decreasing tumor size, particularly for tumors smaller than 100 mm3. In conclusion, algorithms for BM segmentation require further refinement to balance high sensitivity in lesion detection with the minimization of false positives and negatives. The BraTS-METS 2023 challenge successfully curated well-annotated, diverse d

关键词： Image segmentation

The Brain Tumor Segmentation (BraTS) Challenge: Local Synthesis of Healthy Brain Tissue via Inpainting

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arXiv 2023年

作者： Kofler, Florian Steinbauer, Felix Meissen, Felix Graf, Robert Ehrlich, Stefan K. Reinke, Annika Oswald, Eva Waldmannstetter, Diana Hoelzl, Florian Horvath, Izabela Turgut, Oezguen Shit, Suprosanna Bukas, Christina Yang, Kaiyuan Paetzold, Johannes C. de da Rosa, Ezequiel Mekki, Isra Vinayahalingam, Shankeeth Kassem, Hasan Zhang, Juexin Chen, Ke Weng, Ying Durrer, Alicia Cattin, Philippe C. Wolleb, Julia Sadique, M.S. Rahman, M.M. Farzana, W. Temtam, A. Iftekharuddin, K.M. Adewole, Maruf Anwar, Syed Muhammad Baid, Ujjwal Janas, Anastasia Kazerooni, Anahita Fathi LaBella, Dominic Bran Li, Hongwei Moawad, Ahmed W. Conte, Gian-Marco Farahani, Keyvan Eddy, James Sheller, Micah Pati, Sarthak Karagyris, Alexandros Aristizabal, Alejandro Bergquist, Timothy Chung, Verena Shinohara, Russell Takeshi Dako, Farouk Wiggins, Walter Reitman, Zachary Wang, Chunhao Liu, Xinyang Jiang, Zhifan Johanson, Elaine Meier, Zeke Familiar, Ariana Davatzikos, Christos Freymann, John Kirby, Justin Bilello, Michel Fathallah-Shaykh, Hassan M. Wiest, Roland Kirschke, Jan Colen, Rivka R. Kotrotsou, Aikaterini Lamontagne, Pamela Marcus, Daniel Milchenko, Mikhail Nazeri, Arash Weber, Marc-André Mahajan, Abhishek Mohan, Suyash Mongan, John Hess, Christopher Cha, Soonmee Villanueva-Meyer, Javier Colak, Errol Crivellaro, Priscila Jakab, Andras Fatade, Abiodun Omidiji, Olubukola Akinola Lagos, Rachel Olatunji, O.O. Khanna, Goldey Kirkpatrick, John Alonso-Basanta, Michelle Rashid, Arif Bornhorst, Miriam Nabavizadeh, Ali Lepore, Natasha Palmer, Joshua Porras, Antonio Albrecht, Jake Anazodo, Udunna Aboian, Mariam Calabrese, Evan Rudie, Jeffrey David Linguraru, Marius George Iglesias, Juan Eugenio Van Leemput, Koen Bakas, Spyridon Wiestler, Benedikt Ezhov, Ivan Piraud, Marie Menze, Bjoern H. Helmholtz AI Germany Technical University of Munich Germany Helmholtz Munich Germany Klinikum Rechts der Isar Munich Germany SETLabs Research GmbH Healthcare Technologies Munich Germany Heidelberg Division of Intelligent Medical Systems Germany Heidelberg HI Helmholtz Imaging Germany Institute of Clinical Neuroimmunology Faculty of Medicine Ludwig Maximilian University Munich Germany University of Zurich Switzerland Helmholtz Research Center Munich Germany Imperial College London United Kingdom Icometrix Leuven Belgium Department of Oral and Maxillofacial Surgery Radboudumc Netherlands Department of Artificial Intelligence Radboud University Netherlands MLCommons University of Nottingham Ningbo China Ningbo315100 China Center for medical Image Analysis and Navigation Department of Biomedical Engineering University of Basel Allschwil Switzerland Old Dominion University NorfolkVA23529 United States Lab Crestview Radiology Lagos Nigeria Children's National Hospital WashingtonDC United States George Washington University WashingtonDC United States 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 Yale University New HavenCT United States Children's Hospital of Philadelphia University of Pennsylvania PhiladelphiaPA United States Duke University Medical Center Department of Radiation Oncology United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Department of Neuroradiology Technical University of Munich Munich Germany Mercy Catholic Medical Center DarbyPA United States Department of Radiology Mayo Clinic RochesterMN United States Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD20814 U

A myriad of algorithms for the automatic analysis of brain MR images is available to support clinicians in their decision-making. For brain tumor patients, the image acquisition time series typically starts with an already pathological scan. This poses problems, as many algorithms are designed to analyze healthy brains and provide no guarantee for images featuring lesions. Examples include but are not limited to algorithms for brain anatomy parcellation, tissue segmentation, and brain extraction. To solve this dilemma, we introduce the BraTS inpainting challenge. Here, the participants explore inpainting techniques to synthesize healthy brain scans from lesioned ones. The following manuscript contains the task formulation, dataset, and submission procedure. Later, it will be updated to summarize the findings of the challenge. The challenge is organized as part of the ASNR-BraTS MICCAI challenge. Copyright © 2023, The Authors. All rights reserved.

关键词： Magnetic resonance imaging

Forecasting: theory and practice

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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

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

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

Quantum computing at the frontiers of biological sciences

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arXiv 2019年

作者： Emani, Prashant S. Warrell, Jonathan Anticevic, Alan Bekiranov, Stefan Gandal, Michael McConnell, Michael J. Sapiro, Guillermo Aspuru-Guzik, Alán Baker, Justin Bastiani, Matteo McClure, Patrick Murray, John Sotiropoulos, Stamatios N. Taylor, Jacob Senthil, Geetha Lehner, Thomas Gerstein, Mark B. Harrow, Aram W. Program in Computational Biology and Bioinformatics Yale University New HavenCT06520 United States Department of Molecular Biophysics and Biochemistry Yale University New HavenCT06520 United States Yale School of Medicine Department of Psychiatry New HavenCT06511 United States University of Virginia School of Medicine Department of Biochemistry and Molecular Genetics CharlottesvilleVA22903 United States Department of Psychiatry Semel Institute David Geffen School of Medicine University of California–Los Angeles 695 Charles E. Young Drive South Los AngelesCA90095 United States Univ. of Virginia School of Medicine Department of Neuroscience CharlottesvilleVA22903 United States Department of Electrical and Computer Engineering Duke University DurhamNC27708 United States Department of Chemistry University of Toronto 80 St. George Street TorontoONM5S 3H6 Canada TorontoONM5S 1M1 Canada CIFAR Artificial Intelligence Research Chair Vector Institute TorontoONM5S 1M1 Canada Department of Computer Science University of Toronto 40 St. George Street TorontoONM5S 2E4 Canada Schizophrenia and Bipolar Disorder Program McLean Hospital BelmontMA02478 United States Department of Psychiatry Harvard Medical School BostonMA02114 United States Sir Peter Mansfield Imaging Centre School of Medicine University of Nottingham NottinghamNG7 2RD United Kingdom Machine Learning Team National Institute of Mental Health BethesdaMD20892 United States Section on Functional Imaging Methods National Institute of Mental Health BethesdaMD20892 United States Department of Psychiatry Yale University School of Medicine New HavenCT06511 United States Department of Physics Yale University New HavenCT06511 United States Joint Center for Quantum Information and Computer Science University of Maryland College ParkMD20742 United States National Institute of Standards and Technology GaithersburgMD20899 United States Office of Genomics Research Coordination N

The search for meaningful structure in biological data has relied on cutting-edge advances in computational technology and data science methods. However, challenges arise as we push the limits of scale and complexity in biological problems. Innovation in massively parallel, classical computing hardware and algorithms continues to address many of these challenges, but there is a need to simultaneously consider new paradigms to circumvent current barriers to processing speed. Accordingly, we articulate a view towards quantum computation and quantum information science, where algorithms have demonstrated potential polynomial and exponential computational speedups in certain applications, such as machine learning. The maturation of the field of quantum computing, in hardware and algorithm development, also coincides with the growth of several collaborative efforts to address questions across length and time scales, and scientific disciplines. We use this coincidence to explore the potential for quantum computing to aid in one such endeavor: the merging of insights from genetics, genomics, neuroimaging and behavioral phenotyping. By examining joint opportunities for computational innovation across fields, we highlight the need for a common language between biological data analysis and quantum computing. Ultimately, we consider current and future prospects for the employment of quantum computing algorithms in the biological sciences. Copyright © 2019, The Authors. All rights reserved.

关键词： Machine learning