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Feasibility of multiomics tumor profiling for guiding treatment of melanoma

Nature medicine 2025年 2025 May 27页

作者： Nicola Miglino Nora C Toussaint Alexander Ring Ximena Bonilla Marina Tusup Benedict Gosztonyi Tarun Mehra Gabriele Gut Francis Jacob Stephane Chevrier Kjong-Van Lehmann Ruben Casanova Andrea Jacobs Sujana Sivapatham Laura Boos Parisa Rahimzadeh Manuel Schuerch Bettina Sobottka Natalia Chicherova Shuqing Yu Rebekka Wegmann Julien Mena Emanuela S Milani Sandra Goetze Cinzia Esposito Jacobo Sarabia Del Castillo Anja L Frei Marta Nowak Anja Irmisch Jack Kuipers Monica-Andreea Baciu-Drăgan Pedro F Ferreira Franziska Singer Anne Bertolini Michael Prummer Ulrike Lischetti Rudolf Aebersold Marina Bacac Gerd Maass Holger Moch Michael Weller Alexandre P A Theocharides Markus G Manz Niko Beerenwinkel Christian Beisel Lucas Pelkmans Berend Snijder Bernd Wollscheid Viola Heinzelmann Bernd Bodenmiller Mitchell P Levesque Viktor H Koelzer Gunnar Rätsch Reinhard Dummer Andreas Wicki Department of Medical Oncology and Hematology University of Zurich and University Hospital Zurich Switzerland. NEXUS Personalized Health Technologies ETH Zurich Zurich Switzerland. SIB Swiss Institute of Bioinformatics Lausanne Switzerland. Swiss Data Science Center SDSC Zurich Switzerland. Department of Computer Science Institute of Machine Learning ETH Zurich Zurich Switzerland. Department of Dermatology University Hospital Zurich University of Zurich Zurich Switzerland. Department of Biomedicine University Hospital Basel and University of Basel Basel Switzerland. Department of Quantitative Biomedicine University of Zurich Zurich Switzerland. Department of Biology RWTH Aachen Aachen Germany. Department of Pathology and Molecular Pathology University of Zurich and University Hospital Zurich Switzerland. Department of Biology Institute of Molecular Systems Biology ETH Zurich Zurich Switzerland. Department of Health Sciences and Technology ETH Zurich Zurich Switzerland. ETH PHRT Swiss Multi-Omics Center (SMOC) ETH Zurich Zurich Switzerland. Department of Molecular Life Sciences University of Zurich Zurich Switzerland. Roche Pharmaceutical Research and Early Development Roche Innovation Center Zurich Switzerland. Department of Biosystems Science and Engineering ETH Zurich Basel Switzerland. Roche Diagnostics GmbH MWG Penzberg Germany. Department of Neurology University Hospital and University of Zurich Zurich Switzerland. Institute of Medical Genetics and Pathology University Hospital Basel Basel Switzerland. Biomedical Informatics University Hospital Zurich Zurich Switzerland. AI Center at ETH Zurich ETH Zurich Zurich Switzerland. Department of Biology ETH Zurich Zurich Switzerland. Department of Medical Oncology and Hematology University of Zurich and University Hospital Zurich Switzerland. andreas.wicki@usz.ch.

There is limited evidence supporting the feasibility of using omics and functional technologies to inform treatment decisions. Here we present results from a cohort of 116 melanoma patients in the prospective, multicentric observational Tumor Profiler (TuPro) precision oncology project. Nine independent technologies, mostly at single-cell level, were used to analyze 126 patient samples, generating up to 500 Gb of data per sample (40,000 potential markers) within 4 weeks. Among established and experimental markers, the molecular tumor board selected 54 to inform its treatment recommendations. In 75% of cases, TuPro-based data were judged to be useful in informing recommendations. Patients received either standard of care (SOC) treatments or highly individualized, polybiomarker-driven treatments (beyond SOC). The objective response rate in difficult-to-treat palliative, beyond SOC patients (n = 37) was 38%, with a disease control rate of 54%. Progression-free survival of patients with TuPro-informed therapy decisions was 6.04 months, (95% confidence interval, 3.75-12.06) and 5.35 months (95% confidence interval, 2.89-12.06) in ≥third therapy lines. The proof-of-concept TuPro project demonstrated the feasibility and relevance of omics-based tumor profiling to support data-guided clinical decision-making. *** identifier: NCT06463509 .

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Adversarial feature learning of online monitoring data for operational risk assessment in distribution networks

arXiv

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arXiv 2018年

作者： Shi, Xin Qiu, Robert Mi, Tiebin He, Xing Zhu, Yongli Department of Electrical Engineering Center for Big Data and Artificial Intelligence State Energy Smart Grid Research and Development Center Shanghai Jiaotong University Shanghai200240 China Department of Electrical and Computer Engineering Tennessee Technological University CookevilleTN38505 United States State Key Laboratory of Alternate Electrical Power Systems with Renewable Energy Sources North China Electric Power University Baoding071003 China

With the deployment of online monitoring systems in distribution networks, massive amounts of data collected through them contains rich information on the operating states of the networks. By leveraging the data, an unsupervised approach based on bidirectional generative adversarial networks (BiGANs) is proposed for operational risk assessment in distribution networks in this paper. The approach includes two stages: (1) adversarial feature learning. The most representative features are extracted from the online monitoring data and a statistical index Nφis calculated for the features, during which we make no assumptions or simplifications on the real data. (2) operational risk assessment. The confidence level 1 - α for the population mean of the standardized Nφis combined with the operational risk levels which are divided into emergency, high risk, preventive and normal, and the p value for each data point is calculated and compared with α/2 to determine the risk levels. The proposed approach is capable of discovering the latent structure of the real data and providing more accurate assessment result. The synthetic data is employed to illustrate the selection of parameters involved in the proposed approach. Case studies on the real-world online monitoring data validate the effectiveness and advantages of the proposed approach in risk assessment. Copyright © 2018, The Authors. All rights reserved.

关键词： Risk assessment

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Author Correction: Genomic footprints of activated telomere maintenance mechanisms in cancer (Dec, 10.1038/s41467-019-13824-9, 2022)

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NATURE COMMUNICATIONS 2022年第1期13卷 1-1页

作者： Sieverling, Lina Hong, Chen Koser, Sandra D. Ginsbach, Philip Kleinheinz, Kortine Hutter, Barbara Braun, Delia M. Cortes-Ciriano, Isidro Xi, Ruibin Kabbe, Rolf Park, Peter J. Eils, Roland Schlesner, Matthias Brors, Benedikt Rippe, Karsten Jones, David T. W. Feuerbach, Lars Division of Applied Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Faculty of Biosciences Heidelberg University 69120 Heidelberg Germany Division of Applied Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Biosciences Heidelberg University Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) 69120 Heidelberg Germany Department for Bioinformatics and Functional Genomics Institute for Pharmacy and Molecular Biotechnology (IPMB) and BioQuant 69120 Heidelberg Germany Division of Theoretical Bioinformatics German Cancer Research Center (DKFZ) Heidelberg Germany Institute of Pharmacy and Molecular Biotechnology and BioQuant Heidelberg University Heidelberg Germany German Cancer Consortium (DKTK) Heidelberg Germany National Center for Tumor Diseases (NCT) Heidelberg Heidelberg Germany Heidelberg Center for Personalized Oncology (DKFZ-HIPO) German Cancer Research Center (DKFZ) Heidelberg Germany German Cancer Consortium (DKTK) German Cancer Research Center (DKFZ) Heidelberg Germany Division of Chromatin Networks German Cancer Research Center (DKFZ) and BioQuant 69120 Heidelberg Germany Department of Biomedical Informatics Harvard Medical School Boston Massachusetts 02115 USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge CB2 1EW UK Ludwig Center at Harvard Medical School Boston Massachusetts 02115 USA Department of Biomedical Informatics Harvard Medical School Boston MA USA Department of Chemistry Centre for Molecular Science Informatics University of Cambridge Cambridge UK Ludwig Center at Harvard Medical School Boston MA USA School of Mathematical Sciences and Center for Statistical Science Peking University Beijing 100871 China Heidelberg University Heidelberg Germany New BIH Digital Health Center Berlin Institute of Health (BIH) and Charité - Universitätsmedizin Berlin Berlin Germany Bioi

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Discovery of rare variants associated with blood pressure regulation through meta-analysis of 1.3 million individuals (vol 52, pg 1314, 2020)

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NATURE GENETICS 2021年第5期53卷 762-762页

作者： Surendran, Praveen Feofanova, Elena V. Lahrouchi, Najim Ntalla, Ioanna Karthikeyan, Savita Cook, James Chen, Lingyan Mifsud, Borbala Yao, Chen Kraja, Aldi T. Cartwright, James H. Hellwege, Jacklyn N. Giri, Ayush Tragante, Vinicius Thorleifsson, Gudmar Liu, Dajiang J. Prins, Bram P. Stewart, Isobel D. Cabrera, Claudia P. Eales, James M. Akbarov, Artur Auer, Paul L. Bielak, Lawrence F. Bis, Joshua C. Braithwaite, Vickie S. Brody, Jennifer A. Daw, E. Warwick Warren, Helen R. Drenos, Fotios Nielsen, Sune Fallgaard Faul, Jessica D. Fauman, Eric B. Fava, Cristiano Ferreira, Teresa Foley, Christopher N. Franceschini, Nora Gao, He Giannakopoulou, Olga Giulianini, Franco Gudbjartsson, Daniel F. Guo, Xiuqing Harris, Sarah E. Havulinna, Aki S. Helgadottir, Anna Huffman, Jennifer E. Hwang, Shih-Jen Kanoni, Stavroula Kontto, Jukka Larson, Martin G. Li-Gao, Ruifang Lindstrom, Jaana Lotta, Luca A. Lu, Yingchang Luan, Jian'an Mahajan, Anubha Malerba, Giovanni Masca, Nicholas G. D. Mei, Hao Menni, Cristina Mook-Kanamori, Dennis O. Mosen-Ansorena, David Muller-Nurasyid, Martina Pare, Guillaume Paul, Dirk S. Perola, Markus Poveda, Alaitz Rauramaa, Rainer Richard, Melissa Richardson, Tom G. Sepulveda, Nuno Sim, Xueling Smith, Albert V. Smith, Jennifer A. Staley, James R. Stanakova, Alena Sulem, Patrick Theriault, Sebastien Thorsteinsdottir, Unnur Trompet, Stella Varga, Tibor V. Velez Edwards, Digna R. Veronesi, Giovanni Weiss, Stefan Willems, Sara M. Yao, Jie Young, Robin Yu, Bing Zhang, Weihua Zhao, Jing-Hua Zhao, Wei Zhao, Wei Evangelou, Evangelos Aeschbacher, Stefanie Asllanaj, Eralda Blankenberg, Stefan Bonnycastle, Lori L. Bork-Jensen, Jette Brandslund, Ivan Braund, Peter S. Burgess, Stephen Cho, Kelly Christensen, Cramer Connell, John de Mutsert, Renee Dominiczak, Anna F. Dorr, Marcus Eiriksdottir, Gudny Farmaki, Aliki-Eleni Gaziano, J. Michael Grarup, Niels Grove, Megan L. Hallmans, Goran Hansen, Torben Have, Christian T. Heiss, Gerardo Jorgensen, Marit E. Jousilahti, Pekka Kajantie, Eero Kamat, Mihir Karajamaki, AnneMari Kar British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK British Heart Foundation Centre of Research Excellence University of Cambridge Cambridge UK Health Data Research UK Cambridge Wellcome Genome Campus and University of Cambridge Cambridge UK Rutherford Fund Fellow Department of Public Health and Primary Care University of Cambridge Cambridge UK MRC Biostatistics Unit University of Cambridge Cambridge UK National Institute for Health Research Cambridge Biomedical Research Centre University of Cambridge and Cambridge University Hospitals Cambridge UK MRC Integrative Epidemiology Unit (IEU) Population Health Sciences Bristol Medical School University of Bristol Bristol UK Robertson Centre for Biostatistics University of Glasgow Glasgow UK MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK Department of Immunology and Inflammation Imperial College London London UK Centre for Non-communicable Disease Research (CNCR) Dhaka Bangladesh National Institute for Health Research (NIHR) Blood and Transplant Research Unit (BTRU) in Donor Health and Genomics at the University of Cambridge Cambridge UK Department of Human Genetics Wellcome Sanger Institute Wellcome Genome Campus Hinxton Cambridge UK Department of Biostatistics and Epidemiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Center for Non-Communicable Diseases Karachi Pakistan Department of Genetics Novo Nordisk Research Centre Oxford Oxford UK Human Genetics Center Department of Epidemiology Human Genetics and Environmental Sciences School of Public Health University of Texas Health Science Center at Houston Houston TX USA Human Genome Sequencing Center Baylor College of Medicine Houston TX USA Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA Cardiovascular Research Center Center for Genomic Medicine

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AGlobal benchmark of algorithms for segmentinglate gadolinium-enhanced cardiac magnetic resonance imaging

arXiv

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arXiv 2020年

作者： Xiong, Zhaohan Xia, Qing Hu, Zhiqiang Huang, Ning Bian, Cheng Zheng, Yefeng Vesal, Sulaiman Ravikumar, Nishant Maier, Andreas Yang, Xin Heng, Pheng-Ann Ni, Dong Li, Caizi Tong, Qianqian Si, Weixin Puybareau, Elodie Khoudli, Younes Géraud, Thierry Chen, Chen Bai, Wenjia Rueckert, Daniel Xu, Lingchao Zhuang, Xiahai Luo, Xinzhe Jia, Shuman Sermesant, Maxime Liu, Yashu Wang, Kuanquan Borra, Davide Masci, Alessandro Corsi, Cristiana De Vente, Coen Veta, Mitko Karim, Rashed Preetha, Chandrakanth Jayachandran Engelhardt, Sandy Qiao, Menyun Wang, Yuanyuan Tao, Qian Nuñez-Garcia, Marta Camara, Oscar Savioli, Nicolo Lamata, Pablo Zhao, Jichao Auckland Bioengineering Institute University of Auckland Auckland New Zealand State Key Lab of Virtual Reality Technology and Systems Beihang University Beijing China School of Electronics Engineering and Computer Science Peking University Beijing China SenseTime Inc Shenzhen China Tencent Jarvis Laboratory Shenzhen China Pattern Recognition Lab Friedrich-Alexander-Universität Erlangen-Nürnberg Erlangen Germany Department of Computer Science and Engineering Chinese University of Hong Kong Hong Kong National-Regional Key Technology Engineering Laboratory for Medical Ultrasound School of Biomedical Engineering Shenzhen University Shenzhen China School of Computer Science Wuhan University Wuhan China Shenzhen Key Laboratory of Virtual Reality and Human Interaction Technology Shenzhen Institutes of Advanced Technology Chinese Academy of Sciences Shenzhen China Epita Research and Development Laboratory Paris France Department of Computing Imperial College London London United Kingdom School of Naval Architecture Shanghai Jiao Tong University Ocean & Civil Engineering Shanghai China School of Data Science Fudan University Shanghai China Epione Research Group Universite Cote d'Azur Inria Sophia Antipolis France Harbin Institute of Technology School of Computer Science and Technology Harbin China Department of Electric University of Bologna Electronic and Information Engineering Cesena Italy Department of Biomedical Engineering Eindhoven University of Technology Eindhoven Netherlands School of Biomedical Engineering and Imaging Sciences Kings College London London United Kingdom Faculty of Electrical Engineering and Information Technology University of Magdeburg Magdeburg Germany Heidelberg University Hospital Germany Biomedical Engineering Center Fudan University Shanghai China Department of Radiology Leiden University Medical Center Leiden Netherlands Department of Information and Communication Technologies Universitat Pompeu Fabra Barcelona Spain D

Segmentation of cardiac images, particularly late gadolinium-enhanced magnetic resonance imaging (LGE-MRI)widely used for visualizing diseased cardiacstructures, is a crucial first step for clinical diagnosis and treatment. However, direct segmentation ofLGE-MRIsischallenging due to *** most clinical studies have relied on manual and labor-intensive approaches, automatic methods are of high interest, particularly optimized machine learning *** address this, we organized the "2018 Left Atrium Segmentation Challenge" using 154 3D LGE-MRIs, currently the world's largest cardiac LGE-MRI dataset, and associated labels of the left atriumsegmented by three medical experts,ultimately attractingthe participation of27 international teams. In this paper, extensive analysis of the submitted algorithms using technical and biological metrics was performed by undergoing subgroup analysis and conducting hyper-parameter analysis,offeringan overall picture ofthe major design choices of convolutional neural networks(CNNs) and practical considerations for achieving state-of-the-art left atrium segmentation. Results show the top methodachieved a dice score of 93.2%and a mean surface to a surface distance of 0.7mm, significantly outperforming prior state-of-the-art. Particularly, our analysisdemonstrated that double, sequentially usedCNNs, in which a first CNN is used for automatic region-of-interestlocalization and a subsequent CNN is used for refinedregional segmentation, achieved far superiorresults than traditional methods and pipelinescontaining *** findings from this study can potentially be extended to other imaging datasets and modalities, having an impact on the wider medical imaging *** large-scale benchmarking study makes a significant step towards much-improved segmentation methods for cardiac LGE-MRIs, and will serveas animportant benchmark for evaluating and comparing the future works in the field. Copyright © 2020, Th

关键词： Magnetic resonance imaging

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Keep Your Friends Close and Your Colleagues Nearby: The Hidden Ties That Improve STEM Education

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Change 2019年第1期51卷 42页

作者： Mestre, Jose P. Herman, Geoffrey L. Tomkin, Jonathan H. West, Matthew Jose P. Mestre (mestre@illinois.edu). A theoretical nuclear physicist by training Mestre’s research focuses on the learning of physics contributing in areas such as the acquisition and use of knowledge by experts and novices transfer of learning problem solving and instructional design. He has offered Congressional testimony on The Science of Learning has published numerous articles and books and is a Fellow of the American Physical Society.http://***/0000-0003-2110-1954 Geoffrey L. Herman (glherman@illinois.edu). Herman has a Ph.D. in Electrical and Computer Engineering and is a Teaching Assistant Professor in Computer Science and a Research Assistant Professor in the Department of Curriculum & Instruction at the University of Illinois. His research focuses on how students learn engineering and computing concepts and studying processes for creating systemic instructional change in college settings. Previously he was a postdoctoral researcher in Engineering Education at Purdue University.http://***/0000-0002-9501-2295 Jonathan H. Tomkin (tomkin@illinois.edu). Tomkin is a mathematically based geoscientist with two research focus areas: first he uses models and large data sets to determine how climates glaciers tectonics and landscapes interact. Second he explores how new technological and organizational approaches can improve STEM education. He produced the first geoscience MOOC is the editor of an open-source textbook and has published widely in both geoscience and STEM education. Matthew West (mwest@illinois.edu). Matthew West is an Associate Professor of Mechanical Science and Engineering at the University of Illinois with research interests in scientific computing that include time integration of deterministic and stochastic systems distributed computation and particle methods for simulation and estimation. In education he researches computer-based assessment and the development of innovative teaching cultures. Professor West is a University of Illinois Distinguished Teacher-Scholar and Colleg

A science department on the campus of the University of Illinois has received numerous national awards for excellence in undergraduate teaching. The secret to their success? For nearly two decades, they have collaboratively used evidence-based instructional practices (EBIP) in their introductory level courses. Despite these successes and efforts to spread their EBIP, no other departments followed this department's lead. Then, suddenly six years ago, many instructors from other departments began adopting EBIP in their classrooms. This article asks what was the catalyst for this change? Why had previous attempts at institutional change failed? The authors answer these questions by analyzing their efforts to transform the teaching practices in large-enrollment science and engineering introductory courses on their campus.

关键词： STEM Education Evidence Based Practice Teaching Methods Undergraduate Study College Faculty Educational Change Communities of Practice Mentors School CultureIllinois

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Corrigendum to ‟On-tissue polysulfide visualization by surface-enhanced Raman spectroscopy benefits patients with ovarian cancer to predict post-operative chemosensitivity" [Redox Biol. 41 (2021) 101926]

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Redox biology 2021年 44卷 102028页

作者： Kazufumi Honda Takako Hishiki Sohei Yamamoto Takehiro Yamamoto Nami Miura Akiko Kubo Mai Itoh Wei-Yu Chen Masashi Takano Tomoyuki Yoshikawa Takahiro Kasamatsu Shinichiro Sonoda Hirotoshi Yoshizawa Seigo Nakamura Yuichiro Itai Megumi Shiota Daisuke Koike Masayuki Naya Noriyo Hayakawa Yoshiko Naito Tomomi Matsuura Keiko Iwaisako Toshihiko Masui Shinji Uemoto Kengo Nagashima Yoshinori Hashimoto Tomohiro Sakuma Osamu Matsubara Wilber Huang Tomoaki Ida Takaaki Akaike Yohei Masugi Michiie Sakamoto Tomoyasu Kato Yoshinori Ino Hiroshi Yoshida Hitoshi Tsuda Nobuyoshi Hiraoka Yasuaki Kabe Makoto Suematsu Department of Biomarkers for Early Detection of Cancer National Cancer Center Research Institute Tokyo Japan AMED-CREST Japan Agency for Medical Research and Development (AMED) Japan Department of Bioregulation Graduate School of Medicine Nippon Medical School Japan. Department Biochemistry Keio University School of Medicine Tokyo Japan. Department of Diagnostic Pathology Anjo Kosei Hospital Aichi Japan. Department of Pathology School of Medicine College of Medicine Taipei Medical University Taipei Taiwan Department of Pathology Wan Fang Hospital Taipei Medical University Taipei Taiwan. Department of Obstetrics and Gynecology National Defense Medical College Saitama Japan. Department of Clinical Oncology National Defense Medical College Hospital Saitama Japan. Department of Obstetrics and Gynecology Tokyo Metropolitan Bokutoh Hospital Tokyo Japan. Frontier Core Technology Laboratories R&D Management Headquarters FUJIFILM Corporation Ashigara-gun Kanagawa Japan. FUJIFILM Business Expert Corporation Ashigara-gun Kanagawa Japan. Division of Hepato-Biliary-Pancreatic Surgery and Transplantation Department of Surgery Kyoto University 54 Shogoin Kawaracho Sakyo Kyoto Japan Department of Medical Life Systems Faculty of Life and Medical Sciences Doshisha University 1-3 Tatara Miyakodani Kyotanabe city Kyoto Japan. Division of Hepato-Biliary-Pancreatic Surgery and Transplantation Department of Surgery Kyoto University 54 Shogoin Kawaracho Sakyo Kyoto Japan. Research Center for Medical and Health Data Science The Institute of Statistical Mathematics Tokyo Japan. Scientific Imaging Scanner Department System Division Hamamatsu Photonics Hamamatsu Japan. Bioscience Division Mitsui Knowledge Industry Corporation Ltd. Tokyo Japan. Department of Pathology Hiratsuka Kyosai Hospital The Cancer Institute Kanagawa Japan. Abnova Corporation Taipei Taiwan. Department of Environmental Medicine and Molecular Toxicology Tohoku University Graduate School of Medici

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A universal language for finding mass spectrometry data patterns

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Nature Methods 2025年 1-8页

作者： Damiani, Tito Jarmusch, Alan K. Aron, Allegra T. Petras, Daniel Phelan, Vanessa V. Zhao, Haoqi Nina Bittremieux, Wout Acharya, Deepa D. Ahmed, Mohammed M. A. Bauermeister, Anelize Bertin, Matthew J. Boudreau, Paul D. Borges, Ricardo M. Bowen, Benjamin P. Brown, Christopher J. Chagas, Fernanda O. Clevenger, Kenneth D. Correia, Mario S. P. Crandall, William J. Crüsemann, Max Fahy, Eoin Fiehn, Oliver Garg, Neha Gerwick, William H. Gilbert, Jeffrey R. Globisch, Daniel Gomes, Paulo Wender P. Heuckeroth, Steffen James, C. Andrew Jarmusch, Scott A. Kakhkhorov, Sarvar A. Kang, Kyo Bin Kessler, Nikolas Kersten, Roland D. Kim, Hyunwoo Kirk, Riley D. Kohlbacher, Oliver Kontou, Eftychia E. Liu, Ken Lizama-Chamu, Itzel Luu, Gordon T. Luzzatto Knaan, Tal Mannochio-Russo, Helena Marty, Michael T. Matsuzawa, Yuki McAvoy, Andrew C. McCall, Laura-Isobel Mohamed, Osama G. Nahor, Omri Neuweger, Heiko Niedermeyer, Timo H. J. Nishida, Kozo Northen, Trent R. Overdahl, Kirsten E. Rainer, Johannes Reher, Raphael Rodriguez, Elys Sachsenberg, Timo T. Sanchez, Laura M. Schmid, Robin Stevens, Cole Subramaniam, Shankar Tian, Zhenyu Tripathi, Ashootosh Tsugawa, Hiroshi van der Hooft, Justin J. J. Vicini, Andrea Walter, Axel Weber, Tilmann Xiong, Quanbo Xu, Tao Pluskal, Tomáš Dorrestein, Pieter C. Wang, Mingxun Institute of Organic Chemistry and Biochemistry of the Czech Academy of Sciences Prague Czech Republic Metabolomics Core Facility Immunity Inflammation and Disease Laboratory Division of Intramural Research National Institute of Environmental Health Sciences National Institutes of Health Research Triangle Park NC United States Department of Chemistry and Biochemistry University of Denver Denver CO United States Functional Metabolomics Lab CMFI Cluster of Excellence University of Tuebingen Tuebingen Germany Department of Biochemistry University of California Riverside Riverside CA United States Department of Pharmaceutical Sciences Skaggs School of Pharmacy and Pharmaceutical Sciences University of Colorado Anschutz Medical Campus Aurora CO United States Collaborative Mass Spectrometry Innovation Center Skaggs School of Pharmacy and Pharmaceutical Sciences University of California San Diego La Jolla CA United States Biologicals and Natural Products Discovery Crop Protection R & D Corteva Agrisciences Indianapolis IN United States BioMolecular Sciences School of Pharmacy University of Mississippi Oxford MS United States Pharmacognosy Faculty of Pharmacy Al-Azhar University Nasr City Egypt Department of Fundamental Chemistry Institute of Chemistry University of São Paulo São Paulo Brazil Department of Chemistry Case Western Reserve University Cleveland OH United States Walter Mors Institute of Research on Natural Products Federal University of Rio de Janeiro Rio de Janeiro Brazil Environmental Genomics and Systems Biology Division Lawrence Berkeley National Lab Berkeley CA United States The Joint Genome Institute Lawrence Berkeley National Lab Berkeley CA United States Mass Spectrometry Center of Expertise Regulatory and Stewardship Corteva Agrisciences Indianapolis IN United States Biologicals and Natural Products Crop Protection R & D Corteva Agrisciences Indianapolis IN United States Department of Chemistry – BMC Science for Life Laborat

Despite being information rich, the vast majority of untargeted mass spectrometry data are underutilized;most analytes are not used for downstream interpretation or reanalysis after publication. The inability to dive into these rich raw mass spectrometry datasets is due to the limited flexibility and scalability of existing software tools. Here we introduce a new language, the Mass Spectrometry Query Language (MassQL), and an accompanying software ecosystem that addresses these issues by enabling the community to directly query mass spectrometry data with an expressive set of user-defined mass spectrometry patterns. Illustrated by real-world examples, MassQL provides a data-driven definition of chemical diversity by enabling the reanalysis of all public untargeted metabolomics data, empowering scientists across many disciplines to make new discoveries. MassQL has been widely implemented in multiple open-source and commercial mass spectrometry analysis tools, which enhances the ability, interoperability and reproducibility of mining of mass spectrometry data for the research community. © The Author(s), under exclusive licence to Springer Nature America, Inc. 2025.

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A structural variation reference for medical and population genetics (vol 581, pg 444, 2020)

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NATURE 2021年第7846期590卷 E55-E55页

作者： Collins, Ryan L. Brand, Harrison Karczewski, Konrad J. Zhao, Xuefang Alfoldi, Jessica Francioli, Laurent C. Khera, Amit V. Lowther, Chelsea Gauthier, Laura D. Wang, Harold Watts, Nicholas A. Solomonson, Matthew O'Donnell-Luria, Anne Baumann, Alexander Munshi, Ruchi Walker, Mark Whelan, Christopher W. Huang, Yongqing Brookings, Ted Sharpe, Ted Stone, Matthew R. Valkanas, Elise Fu, Jack Tiao, Grace Laricchia, Kristen M. Ruano-Rubio, Valentin Stevens, Christine Gupta, Namrata Cusick, Caroline Margolin, Lauren Taylor, Kent D. Lin, Henry J. Rich, Stephen S. Post, Wendy S. Chen, Yii-Der Ida Rotter, Jerome I. Nusbaum, Chad Philippakis, Anthony Lander, Eric Gabriel, Stacey Neale, Benjamin M. Kathiresan, Sekar Daly, Mark J. Banks, Eric MacArthur, Daniel G. Talkowski, Michael E. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Division of Medical Sciences Harvard Medical School Boston MA USA Department of Neurology Massachusetts General Hospital and Harvard Medical School Boston MA USA Analytical and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA USA Department of Medicine Harvard Medical School Boston MA USA Data Science Platform Broad Institute of MIT and Harvard Cambridge MA USA Broad Genomics Broad Institute of MIT and Harvard Cambridge MA USA European Molecular Biology Laboratory European Bioinformatics Institute Wellcome Genome Campus Hinxton Cambridge UK Stanley Center for Psychiatric Research Broad Institute of MIT and Harvard Cambridge MA USA Division of Genetics and Genomics Boston Children’s Hospital Boston MA USA Department of Pediatrics Harvard Medical School Boston MA USA National Heart & Lung Institute and MRC London Institute of Medical Sciences Imperial College London London UK Cardiovascular Research Centre Royal Brompton & Harefield Hospitals NHS Trust London UK Cardiac Arrhythmia Service Cardiovascular Research Center Massachusetts General Hospital Boston MA USA Estonian Genome Center Institute of Genomics University of Tartu Tartu Estonia Diabetes Unit Massachusetts General Hospital Boston MA USA Program in Metabolism Broad Institute of MIT and Harvard Cambridge MA USA Division of Cardiology Massachusetts General Hospital Boston MA USA Cardiovascular Disease Initiative Broad Institute of MIT and Harvard Cambridge MA USA Division of General Internal Medicine Massachusetts General Hospital Boston MA USA Institute for Molecular Medicine Finland (FIMM) HiLIFE University of Helsinki Helsinki Finland Department of Public Health Faculty of Medicine University

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Global, regional, and national sex-specific burden and control of the HIV epidemic, 1990–2019, for 204 countries and territories: the Global Burden of Diseases Study 2019

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The Lancet HIV 2021年第10期8卷 e633-e651页

作者： Jahagirdar, Deepa Walters, Magdalene K. Novotney, Amanda Brewer, Edmond D. Frank, Tahvi D. Carter, Austin Biehl, Molly H. Abbastabar, Hedayat Abhilash, E.S. Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Adekanmbi, Victor Adeyinka, Daniel Adedayo Adnani, Qorinah Estiningtyas Sakilah Afzal, Saira Aghababaei, Soodabeh Ahinkorah, Bright Opoku Ahmad, Sajjad Ahmadi, Keivan Ahmadi, Sepideh Ahmadpour, Ehsan Ahmed, Muktar Beshir Rashid, Tarik Ahmed Salih, Yusra Ahmed Aklilu, Addis Akram, Tayyaba Akunna, Chisom Joyqueenet Al Hamad, Hanadi Alahdab, Fares Alanezi, Fahad Mashhour Aleksandrova, Ekaterina A. Alene, Kefyalew Addis Ali, Liaqat Alipour, Vahid Almustanyir, Sami Alvis-Guzman, Nelson Ameyaw, Edward Kwabena Amu, Hubert Andrei, Catalina Liliana Andrei, Tudorel Anvari, Davood Arabloo, Jalal Aremu, Olatunde Arulappan, Judie Atnafu, Desta Debalkie Quintanilla, Beatriz Paulina Ayala Ayza, Muluken Altaye Azari, Samad Darshan, B.B. Banach, Maciej Bärnighausen, Till Winfried Barra, Fabio Barrow, Amadou Basu, Sanjay Bazargan-Hejazi, Shahrzad Belay, Habtamu Gebrehana Berheto, Tezera Moshago Bezabhe, Woldesellassie Mequanint Bezabih, Yihienew Mequanint Bhagavathula, Akshaya Srikanth Bhardwaj, Nikha Bhardwaj, Pankaj Bhattacharyya, Krittika Bibi, Sadia Bijani, Ali Bisignano, Catherine Bolarinwa, Obasanjo Afolabi Boloor, Archith Boltaev, Azizbek A. Briko, Nikolay Ivanovich Buonsenso, Danilo Burkart, Katrin Butt, Zahid A. Cao, Chao Charan, Jaykaran Chatterjee, Souranshu Chattu, Soosanna Kumary Chattu, Vijay Kumar Choudhari, Sonali Gajanan Chu, Dinh-Toi Couto, Rosa A.S. Cowden, Richard G. Dachew, Berihun Assefa Dadras, Omid Dagnew, Amare Belachew Dahlawi, Saad M.A. Dai, Xiaochen Dandona, Lalit Dandona, Rakhi das Neves, José Degenhardt, Louisa Demeke, Feleke Mekonnen Desta, Abebaw Alemayehu Deuba, Keshab Dhamnetiya, Deepak Dhungana, Govinda Prasad Dianatinasab, Mostafa Diaz, Daniel Djalalinia, Shirin Doan, Linh Phuong Dorostkar, Fariba Edinur, Hisham Atan Effiong, Andem Eftekharzadeh, Sahar El Sayed Zaki, Maysaa Elayedath, Rajesh Elhadi, Institute for Health Metrics and Evaluation University of Washington Seattle WA United States Department of Health Metrics Sciences School of Medicine University of Washington Seattle WA United States Division of Allergy and Infectious Diseases University of Washington Seattle WA United States Department of Global Health University of Washington Seattle WA United States School of Social Work University of Washington Seattle WA United States Department of Medicine University of Washington Seattle WA United States Vagelos College of Physicians and Surgeones Columbia University Medical Center New York NY United States Division of Data Analytics and Delivery for Impact WHO Geneva Switzerland Advanced Diagnostic and Interventional Radiology Research Centre Tehran University of Medical Sciences Tehran Iran Multiple Sclerosis Research Centre Tehran University of Medical Sciences Tehran Iran School of Public Health Tehran University of Medical Sciences Tehran Iran Department of Epidemiology and Biostatistics Tehran University of Medical Sciences Tehran Iran Paediatric Chronic Kidney Disease Research Centre Tehran University of Medical Sciences Tehran Iran Department of Psychiatry Tehran University of Medical Sciences Tehran Iran Metabolomics and Genomics Research Centre Tehran University of Medical Sciences Tehran Iran Sina Trauma and Surgery Research Centre Tehran University of Medical Sciences Tehran Iran Research Centre for Immunodeficiencies Tehran University of Medical Sciences Tehran Iran Non-Communicable Diseases Research Centre Tehran University of Medical Sciences Tehran Iran Department of Botany Sree Narayana Guru College Chelannur Kozhikode India Clinical Sciences Department University of Sharjah Sharjah United Arab Emirates Mass Communication Department University of Sharjah Sharjah United Arab Emirates Department of Health-Care Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Department of Population Medicine Ca

Background: The sustainable development goals (SDGs) aim to end HIV/AIDS as a public health threat by 2030. Understanding the current state of the HIV epidemic and its change over time is essential to this effort. This study assesses the current sex-specific HIV burden in 204 countries and territories and measures progress in the control of the epidemic. Methods: To estimate age-specific and sex-specific trends in 48 of 204 countries, we extended the Estimation and Projection Package Age-Sex Model to also implement the spectrum paediatric model. We used this model in cases where age and sex specific HIV-seroprevalence surveys and antenatal care-clinic sentinel surveillance data were available. For the remaining 156 of 204 locations, we developed a cohort-incidence bias adjustment to derive incidence as a function of cause-of-death data from vital registration systems. The incidence was input to a custom Spectrum model. To assess progress, we measured the percentage change in incident cases and deaths between 2010 and 2019 (threshold >75% decline), the ratio of incident cases to number of people living with HIV (incidence-to-prevalence ratio threshold <0·03), and the ratio of incident cases to deaths (incidence-to-mortality ratio threshold <1·0). Findings: In 2019, there were 36·8 million (95% uncertainty interval [UI] 35·1–38·9) people living with HIV worldwide. There were 0·84 males (95% UI 0·78–0·91) per female living with HIV in 2019, 0·99 male infections (0·91–1·10) for every female infection, and 1·02 male deaths (0·95–1·10) per female death. Global progress in incident cases and deaths between 2010 and 2019 was driven by sub-Saharan Africa (with a 28·52% decrease in incident cases, 95% UI 19·58–35·43, and a 39·66% decrease in deaths, 36·49–42·36). Elsewhere, the incidence remained stable or increased, whereas deaths generally decreased. In 2019, the global incidence-to-prevalence ratio was 0·05 (95% UI 0·05–0·06) and the global incidence-to-mortality ratio was

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