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Science Bulletin 2025年第6期 934-942页

作者：李灏萱江泽铧管洲榆包玉倩刘月星胡婷婷李佳佳刘茹涵吴量程棣纪宏伟王勇王亚星 Carol Y.Cheung 郑颖丰王继红李震吴卫兵 Cynthia Ciwei Lim Yong Mong Bee Hong Chang Tan Elif I.Ekinci David C.Klonoff Justin B.Echouffo-Tcheugui Nestoras Mathioudakis Leonor Corsino Rafael Simó Charumathi Sabanayagam Gavin Siew Wei Tan 程景煜黄天荫李华婷蔡淳毛丽娟 Lee-Ling Lim 覃宇宗盛斌贾伟平 Shanghai University of Sport School of Clinical Medicine Beijing Tsinghua Changgung Hospital Tsinghua Medicine Tsinghua University Beijing Visual Science and Translational Eye Research Institute(BERI) Tsinghua Medicine Tsinghua University Shanghai Belt and Road International Joint Laboratory of Intelligent Prevention and Treatment for Metabolic Diseases Department of Computer Science and Engineering School of Electronic Information and Electrical Engineering Shanghai Jiao Tong University Department of Endocrinology and Metabolism Shanghai Sixth People’s Hospital Affiliated to Shanghai Jiao Tong University School of Medicine Shanghai Diabetes Institute Shanghai Clinical Center for Diabetes MoE Key Lab of Artificial Intelligence Artificial Intelligence Institute Shanghai Jiao Tong University Department of Cardiology the Affiliated Hospital of Qingdao University CEMS NCMIS HCMS MADIS Academy of Mathematics and Systems Science Chinese Academy of Sciences School of Mathematics University of Chinese Academy of Sciences Chinese Academy of Sciences Key Laboratory of Systems Health Science of Zhejiang Province School of Life Science Hangzhou Institute for Advanced Study University of Chinese Academy of Sciences Beijing Institute of Ophthalmology Beijing Tongren Hospital Capital Medical University Beijing Ophthalmology and Visual Sciences Key Laboratory Department of Ophthalmology and Visual Sciences The Chinese University of Hong Kong State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual ScienceGuangdong Provincial Clinical Research Center for Ocular Diseases Department of Renal Medicine Singapore General Hospital Sing Health-Duke Academic Medical Centre Department of Endocrinology Singapore General Hospital Department of Endocrinology Austin Health Department of Medicine The University of Melbourne(Austin Health) Australian Centre for Accelerating Diabetes Innovations(ACADI) The Univ

Diabetes poses a considerable global health challenge, with varying levels of diabetes knowledge among healthcare professionals, highlighting the importance of diabetes training. Large Language Models(LLMs)provide new insights into diabetes training, but their performance in diabetes-related queries remains uncertain, especially outside the English language like Chinese. We first evaluated the performance of ten LLMs: Chat GPT-3.5, Chat GPT-4.0, Google Bard, Lla MA-7B, Lla MA2-7B, Baidu ERNIE Bot, Ali Tongyi Qianwen, Med GPT, Huatuo GPT, and Chinese Lla MA2-7B on diabetes-related queries, based on the Chinese National Certificate Examination for Primary Diabetes Care in China(NCE-CPDC) and the English Specialty Certificate Examination in Endocrinology and Diabetes of Membership of the Royal College of Physicians of the united Kingdom. Second, we assessed the training of primary care physicians(PCPs) without and with the assistance of Chat GPT-4.0 in the NCE-CPDC examination to ascertain the reliability of LLMs as medical assistants. We found that Chat GPT-4.0 outperformed other LLMs in the English examination, achieving a passing accuracy of 62.50%, which was significantly higher than that of Google Bard, Lla MA-7B, and Lla MA2-7B. For the NCE-CPFC examination, Chat GPT-4.0, Ali Tongyi Qianwen, Baidu ERNIE Bot, Google Bard, Med GPT, and Chat GPT-3.5 successfully passed, whereas Lla MA2-7B, Huatuo GPT,Chinese LLa MA2-7B, and Lla MA-7B failed. Chat GPT-4.0(84.82%) surpassed all PCPs and assisted most PCPs in the NCE-CPDC examination(improving by 1%–6.13%). In summary, LLMs demonstrated outstanding competence for diabetes-related questions in both the Chinese and English language, and hold great potential to assist future diabetes training for physicians globally.

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REFUGE2 CHALLENGE: A TREASURE TROVE FOR MULTI-DIMENSION ANALYSIS AND EVALUATION IN GLAUCOMA SCREENING

arXiv

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arXiv 2022年

作者： Fang, Huihui Li, Fei Wu, Junde Fu, Huazhu Sun, Xu Son, Jaemin Yu, Shuang Zhang, Menglu Yuan, Chenglang Bian, Cheng Lei, Baiying Zhao, Benjian Xu, Xinxing Li, Shaohua Fumero, Francisco Sigut, José Almubarak, Haidar Bazi, Yakoub Guo, Yuanhao Zhou, Yating Baid, Ujjwal Innani, Shubham Guo, Tianjiao Yang, Jie Orlando, José Ignacio Bogunović, Hrvoje Zhang, Xiulan Xu, Yanwu The REFUGE2 Challenge Australia State Key Laboratory of Ophthalmology Zhongshan Ophthalmic Center Sun Yat-Sen University Guangdong Provincial Key Laboratory of Ophthalmology and Visual Science Guangzhou China Intelligent Healthcare Unit Baidu Inc. Beijing China The Institute of High Performance Computing Agency for Science Technology and Research Singapore Yatiris Group PLADEMA Institute CONICET UNICEN Tandil Argentina Christian Doppler Lab for Artificial Intelligence in Retina Department of Ophthalmology and Optometry Medical University of Vienna Vienna Austria VUNO Inc Seoul Korea Republic of Tencent HealthCare Tencent Shenzhen China Computer Vision Institute College of Computer Science and Software Engineering of Shenzhen University Shenzhen China School of Biomedical Engineering Health Science Center Shenzhen University China Xiaohe Healthcare ByteDance Guangdong Guangzhou510000 China School of Biomedical Engineering Shenzhen University China College of Computer Science & Software Engineering Shenzhen University China Department of Computer Science and Systems Engineering Universidad de La Laguna Spain Saudi Electronic University Saudi Arabia King Saud University Saudi Arabia Institute of Automation Chinese Academy of Sciences Beijing China University of Chinese Academy of Sciences Beijing China SGGS Institute of Engineering and Technology India Institute of Medical Robotics Shanghai Jiao Tong University China Institute of Image Processing and Pattern Recognition Shanghai Jiao Tong University China

With the rapid development of artificial intelligence (AI) in medical image processing, deep learning in color fundus photography (CFP) analysis is also evolving. Although there are some open-source, labeled datasets of CFPs in the ophthalmology community, large-scale datasets for screening only have labels of disease categories, and datasets with annotations of fundus structures are usually small in size. In addition, labeling standards are not uniform across datasets, and there is no clear information on the acquisition device. Here we release a multi-annotation, multi-quality, and multi-device color fundus image dataset for glaucoma analysis on an original challenge-Retinal Fundus Glaucoma Challenge 2nd Edition (REFUGE2). The REFUGE2 dataset contains 2000 color fundus images with annotations of glaucoma classification, optic disc/cup segmentation, as well as fovea localization. Meanwhile, the REFUGE2 challenge sets three sub-tasks of automatic glaucoma diagnosis and fundus structure analysis and provides an online evaluation framework. Based on the characteristics of multi-device and multi-quality data, some methods with strong generalizations are provided in the challenge to make the predictions more robust. This shows that REFUGE2 brings attention to the characteristics of real-world multi-domain data, bridging the gap between scientific research and clinical application. © 2022, CC BY-NC-ND.

关键词： Color

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Translation dysregulation in cancer as a source for targetable antigens

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Cancer Cell 2025年第5期43卷 823-840.e18,20页

作者： Weller, Chen Bartok, Osnat McGinnis, Christopher S. Palashati, Heyilimu Chang, Tian-Gen Malko, Dmitry Shmueli, Merav D. Nagao, Asuteka Hayoun, Deborah Murayama, Ayaka Sakaguchi, Yuriko Poulis, Panagiotis Khatib, Aseel Erlanger Avigdor, Bracha Gordon, Sagi Cohen Shvefel, Sapir Zemanek, Marie J. Nielsen, Morten M. Boura-Halfon, Sigalit Sagie, Shira Gumpert, Nofar Yang, Weiwen Alexeev, Dmitry Kyriakidou, Pelgia Yao, Winnie Zerbib, Mirie Greenberg, Polina Benedek, Gil Litchfield, Kevin Petrovich-Kopitman, Ekaterina Nagler, Adi Oren, Roni Ben-Dor, Shifra Levin, Yishai Pilpel, Yitzhak Rodnina, Marina Cox, Jürgen Merbl, Yifat Satpathy, Ansuman T. Carmi, Yaron Erhard, Florian Suzuki, Tsutomu Buskirk, Allen R. Olweus, Johanna Ruppin, Eytan Schlosser, Andreas Samuels, Yardena Department of Molecular Cell Biology Weizmann Institute of Science Rehovot 7610001 Israel Department of Pathology Stanford University Stanford 94305 CA United States Parker Institute for Cancer Immunotherapy San Francisco 94129 CA United States Department of Cancer Immunology Institute for Cancer Research Oslo University Hospital Oslo 0379 Norway Precision Immunotherapy Alliance University of Oslo Oslo Norway Cancer Data Science Laboratory Center for Cancer Research National Cancer Institute National Institutes of Health Bethesda 20892 MD United States Department of Systems Immunology Weizmann Institute of Science Rehovot 7610001 Israel Department of Chemistry and Biotechnology of Engineering The University of Tokyo Tokyo 113-8656 Japan Department of Physical Biochemistry Max Planck Institute for Multidisciplinary Sciences Göttingen 37077 Germany Department of Pathology Sackler School of Medicine Tel Aviv University Tel Aviv 69978 Israel Department of Immunology and Regenerative Biology Weizmann Institute of Science Rehovot 7610001 Israel Computational Systems Biochemistry Research Group Max-Planck Institute of Biochemistry Martinsried 82152 Germany Department of Veterinary Resources Weizmann Institute of Science Rehovot 7610001 Israel Tissue Typing and Immunogenetics Unit Hadassah Hebrew University Hospital Jerusalem 9112102 Israel CRUK Lung Cancer Centre of Excellence University College London Cancer Institute London WC1E 6DD United Kingdom Tumour Immunogenomics and Immunosurveillance Laboratory University College London Cancer Institute London WC1E 6DD United Kingdom Department of Life Science Core Facilities Weizmann Institute of Science Rehovot 7610001 Israel Bioinformatics Unit Department of Life Sciences Core Facilities Weizmann Institute of Science Rehovot 7610001 Israel de Botton Institute for Protein Profiling the Nancy and Stephen Grand Israel National Center for Personalized Medicine Weizmann Institute of Science Rehovot

Aberrant peptides presented by major histocompatibility complex (MHC) molecules are targets for tumor eradication, as these peptides can be recognized as foreign by T cells. Protein synthesis in malignant cells is dysregulated, which may result in the generation and presentation of aberrant peptides that can be exploited for T cell-based therapies. To investigate the role of translational dysregulation in immunological tumor control, we disrupt translation fidelity by deleting tRNA wybutosine (yW)-synthesizing protein 2 (TYW2) in tumor cells and characterize the downstream impact on translation fidelity and immunogenicity using immunopeptidomics, genomics, and functional assays. These analyses reveal that TYW2 knockout (KO) cells generate immunogenic out-of-frame peptides. Furthermore, Tyw2 loss increases tumor immunogenicity and leads to anti-programmed cell death 1 (PD-1) checkpoint blockade sensitivity in vivo. Importantly, reduced TYW2 expression is associated with increased response to checkpoint blockade in patients. Together, we demonstrate that defects in translation fidelity drive tumor immunogenicity and may be leveraged for cancer immunotherapy. © 2025 The Author(s)

关键词： cancer immunopeptidome immune checkpoint blockade neoantigens non-canonical peptides translation fidelity

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In-silico structural and functional analysis of nonsynonymous single nucleotide polymorphisms in human FOLH1 gene

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In silico pharmacology 2025年第1期13卷 32页

作者： Abtin Tondar Muhammad Irfan Sergio Sánchez-Herrero Hafsa Athar Aleena Haqqi Asim Kumar Bepari Laura Calvet Liñán David Hervás Marin Department of Computer Science Multimedia and Telecommunication Interuniversity Doctoral Program in Bioinformatics Universitat Oberta de Catalunya Barcelona (UOC) Spain. Stanford Deep Data Research Center Stanford University Stanford USA. Atta-Ur-Rahman School of Applied Biosciences (ASAB) National University of Sciences and Technology (NUST) Islamabad Punjab Pakistan. School of Medical Laboratory Technology Minhaj University Lahore (MUL) Lahore Punjab Pakistan. Department of Pharmaceutical Sciences North South University (NSU) Dhaka Bangladesh. Telecommunications and Systems Engineering Department Universitat Autònoma de Barcelona (UAB) Sabadell Spain. Department of Applied Statistics and Operational Research and Quality Alcoy Universitat Politècnica de València (UPV) Alcoy Spain.

Non-synonymous single nucleotide polymorphisms (nsSNPs), also known as missense SNPs, can seriously affect an individual’s vulnerability to numerous diseases, including cancer. In this study, we conducted a comprehensive in-silico analysis to examine the structural and functional implications of nsSNPs within the Folate Hydrolase 1(FOLH1) gene, which encodes the Prostate-Specific Membrane Antigen (PSMA). A total of 504 SNPs were retrieved, and after filtering, 15 pathogenic nsSNPs were identified using five different in-silico tools. Three of these SNPs—R255H (rs375565491), R255C (rs201789325), and G168E (rs267602926)—were consistently predicted to be pathogenic across all in-silico tools. MutPred2 was used to predict the structural and functional consequences of the identified mutations. The analysis revealed multiple alterations in the PSMA protein, including changes in helical conformations, glycosylation patterns, transmembrane properties, and solvent accessibility. Furthermore, I-Mutant 2.0 analysis demonstrated a decrease in protein stability for most nsSNPs, except for rs267602926 (G168E), which was predicted to increase stability. Conservation analysis using ConSurf revealed varying degrees of amino acid conservation, with R255H and R255C identified as highly conserved residues, indicating their potential functional and structural significance. Additionally, post-translational modification (PTM) analysis indicated that while phosphorylation and methylation sites remained unchanged, specific glycosylation sites were lost in two pathogenic mutant variants (R255H and R255C), potentially affecting PSMA function and adversely impacting prostate cancer. Our findings highlight the importance of in silico studies to investigate the structural and functional impacts of FOLH1 nsSNPs on the PSMA protein. Such in silico studies can deepen our understanding of the roles of nsSNPs in prostate cancer onset, progression, and drug resistance.

关键词： FOLH1 In-silico structural and functional analyses PSMA PTM nsSNPs

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Perspective on recent developments and challenges in regulatory and systems genomics

arXiv

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arXiv 2024年

作者： Zeiltinger, Julia Roy, Sushmita Ay, Ferhat Mathelier, Anthony Medina-Rivera, Alejandra Mahony, Shaun Sinha, Saurabh Ernst, Jason Stowers Institute for Medical Research Kansas CityMO64112 United States Department of Pathology & Laboratory Medicine The University of Kansas Medical Center Kansas CityKS66160 United States Department of Biostatistics and Medical Informatics University of Wisconsin-Madison Madison53715 United States Wisconsin Institute for Discovery University of Wisconsin-Madison Madison53715 United States Centers for Autoimmunity Inflammation and Cancer Immunotherapy La Jolla Institute for Immunology La Jolla CA United States Bioinformatics and Systems Biology Program University of California La Jolla San DiegoCA United States Department of Pediatrics University of California La Jolla San DiegoCA United States Nordic EMBL Partnership University of Oslo Oslo0318 Norway Department of Medical Genetics Institute of Clinical Medicine University of Oslo Oslo University Hospital Oslo Norway Department of Pharmacy University of Oslo Oslo Norway Laboratorio Internacional de Investigación sobre el Genoma Humano Universidad Nacional Autónoma de México Campus Juriquilla Blvd. Juriquilla 3001 Santiago de Querétaro76230 Mexico Center for Eukaryotic Gene Regulation Department of Biochemistry and Molecular Biology The Pennsylvania State University University ParkPA16802 United States Walter H. Coulter Department of Biomedical Engineering Georgia Institute of Technology AtlantaGA United States H. Milton Stewart School of Industrial and Systems Engineering Georgia Institute of Technology AtlantaGA United States Department of Biological Chemistry University of California Los Angeles Los AngelesCA90095 United States Computer Science Department University of California Los Angeles Los AngelesCA90095 United States Department of Computational Medicine University of California Los Angeles Los AngelesCA90095 United States Eli and Edythe Broad Center of Regenerative Medicine Stem Cell Research University of California Los Angeles Los AngelesCA90095 United States

Predicting how genetic variation affects phenotypic outcomes at the organismal, cellular, and molecular levels requires deciphering the cis-regulatory code, the sequence rules by which non-coding regions regulate genes. In this perspective, we discuss recent computational progress and challenges towards solving this fundamental problem. We describe how cis-regulatory elements are mapped and how their sequence rules can be learned and interpreted with sequence-to-function neural networks, with the goal of identifying genetic variants in human disease. We also discuss how studies of the 3D chromatin organization could help identifying long-range regulatory effects and how current methods for mapping gene regulatory networks could better describe biological processes. We point out current gaps in knowledge along with technical limitations and benchmarking challenges of computational methods. Finally, we discuss newly emerging technologies, such as spatial transcriptomics, and outline strategies for creating a more general model of the cis-regulatory code that is more broadly applicable across cell types and individuals. © 2024, CC BY-NC-SA.

关键词： Molecular docking

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Eye tracking: empirical foundations for a minimal reporting guideline

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Behavior research methods 2023年第1期55卷 364-416页

作者： Kenneth Holmqvist Saga Lee Örbom Ignace T C Hooge Diederick C Niehorster Robert G Alexander Richard Andersson Jeroen S Benjamins Pieter Blignaut Anne-Marie Brouwer Lewis L Chuang Kirsten A Dalrymple Denis Drieghe Matt J Dunn Ulrich Ettinger Susann Fiedler Tom Foulsham Jos N van der Geest Dan Witzner Hansen Samuel B Hutton Enkelejda Kasneci Alan Kingstone Paul C Knox Ellen M Kok Helena Lee Joy Yeonjoo Lee Jukka M Leppänen Stephen Macknik Päivi Majaranta Susana Martinez-Conde Antje Nuthmann Marcus Nyström Jacob L Orquin Jorge Otero-Millan Soon Young Park Stanislav Popelka Frank Proudlock Frank Renkewitz Austin Roorda Michael Schulte-Mecklenbeck Bonita Sharif Frederick Shic Mark Shovman Mervyn G Thomas Ward Venrooij Raimondas Zemblys Roy S Hessels Department of Psychology Nicolaus Copernicus University Torun Poland. kenneth.holmqvist@ur.de. Department of Computer Science and Informatics University of the Free State Bloemfontein South Africa. kenneth.holmqvist@ur.de. Department of Psychology Regensburg University Regensburg Germany. kenneth.holmqvist@ur.de. Department of Psychology Regensburg University Regensburg Germany. Experimental Psychology Helmholtz Institute Utrecht University Utrecht The Netherlands. Lund University Humanities Lab and Department of Psychology Lund University Lund Sweden. Department of Ophthalmology SUNY Downstate Health Sciences University Brooklyn NY USA. Tobii Pro AB Danderyd Sweden. Social Health and Organizational Psychology Utrecht University Utrecht The Netherlands. Department of Computer Science and Informatics University of the Free State Bloemfontein South Africa. TNO Soesterberg The Netherlands. Department of Ergonomics Leibniz Institute for Working Environments and Human Factors Dortmund Germany. Institute of Informatics LMU Munich Munich Germany. Institute of Child Development University of Minnesota Minneapolis USA. School of Psychology University of Southampton Southampton UK. School of Optometry and Vision Sciences Cardiff University Cardiff UK. Department of Psychology University of Bonn Bonn Germany. Vienna University of Economics and Business Vienna Austria. Department of Psychology University of Essex Essex UK. Department of Neuroscience Erasmus MC Rotterdam The Netherlands. Machine Learning Group Department of Computer Science IT University of Copenhagen Copenhagen Denmark. SR Research Ltd Ottawa Canada. Human-Computer Interaction University of Tübingen Tübingen Germany. University of British Columbia Columbia Canada. Department of Eye and Vision Science Institute of Life Course and Medical Sciences University of Liverpool Liverpool UK. Department of Education and Pedagogy Division Education Faculty of Social and Behavioral Sciences Ut

In this paper, we present a review of how the various aspects of any study using an eye tracker (such as the instrument, methodology, environment, participant, etc.) affect the quality of the recorded eye-tracking data and the obtained eye-movement and gaze measures. We take this review to represent the empirical foundation for reporting guidelines of any study involving an eye tracker. We compare this empirical foundation to five existing reporting guidelines and to a database of 207 published eye-tracking studies. We find that reporting guidelines vary substantially and do not match with actual reporting practices. We end by deriving a minimal, flexible reporting guideline based on empirical research (Section "An empirically based minimal reporting guideline").

关键词： Data quality Eye movements Eye tracking Replicability Reporting guidelines Reporting practices Reporting standards Reproducibility

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Towards a consensus atlas of human and mouse adipose tissue at single-cell resolution

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Nature metabolism 2025年第5期7卷 875-894页

作者： Loft, Anne Emont, Margo P. Weinstock, Ada Divoux, Adeline Ghosh, Adhideb Wagner, Allon Hertzel, Ann V. Maniyadath, Babukrishna Deplancke, Bart Liu, Boxiang Scheele, Camilla Lumeng, Carey Ding, Changhai Ma, Chenkai Wolfrum, Christian Strieder-Barboza, Clarissa Li, Congru Truong, Danh D. Bernlohr, David A. Stener-Victorin, Elisabet Kershaw, Erin E. Yeger-Lotem, Esti Shamsi, Farnaz Hui, Hannah X. Camara, Henrique Zhong, Jiawei Kalucka, Joanna Ludwig, Joseph A. Semon, Julie A. Jalkanen, Jutta Whytock, Katie L. Dumont, Kyle D. Sparks, Lauren M. Muir, Lindsey A. Fang, Lingzhao Massier, Lucas Saraiva, Luis R. Beyer, Marc D. Jeschke, Marc G. Mori, Marcelo A. Boroni, Mariana Walsh, Martin J. Patti, Mary-Elizabeth Lynes, Matthew D. Blüher, Matthias Rydén, Mikael Hamda, Natnael Solimini, Nicole L. Mejhert, Niklas Gao, Peng Gupta, Rana K. Murphy, Rinki Pirouzpanah, Saeed Corvera, Silvia Tang, Su'an Das, Swapan K. Schmidt, Søren F Zhang, Tao Nelson, Theodore M. Efthymiou, Vissarion Wang, Wenjing Tong, Yihan Tseng, Yu-Hua Mandrup, Susanne Rosen, Evan D. Center for Functional Genomics and Tissue Plasticity (ATLAS) Department of Biochemistry and Molecular Biology University of Southern Denmark (SDU) Odense Denmark Section of Endocrinology Diabetes and Metabolism University of Chicago Chicago IL United States Department of Medicine Section of Genetic Medicine University of Chicago Chicago IL United States Translational Research Institute Orlando FL United States Department of Health Sciences and Technology Institute of Food Nutrition and Health ETH Zurich Schwerzenbach Switzerland Department of Electrical Engineering and Computer Sciences University of California Berkeley CA United States Department of Molecular and Cell Biology University of California Berkeley CA United States Center for Computational Biology University of California Berkeley CA United States Department of Biochemistry Molecular Biology and Biophysics Institute on the Biology of Aging and Metabolism University of Minnesota-Twin Cities Minneapolis MN United States Center for Functional Genomics and Tissue Plasticity (ATLAS) Department of Biochemistry and Molecular Biology University of Southern Denmark (SDU) Odense Denmark Laboratory of Systems Biology and Genetics Institute of Bioengineering School of Life Sciences École Polytechnique Fédérale de Lausanne (EPFL) Lausanne Switzerland Department of Pharmacy and Pharmaceutical Sciences Faculty of Science National University of Singapore Singapore Department of Biomedical Informatics Yong Loo Lin School of Medicine National University of Singapore Singapore Genome Institute of Singapore (GIS) Agency for Science Technology and Research (A*STAR) Singapore Precision Medicine Translational Research Programme Yong Loo Lin School of Medicine National University of Singapore Singapore Cardiovascular-Metabolic Disease Translational Research Programme Yong Loo Lin School of Medicine National University of Singapore Singapore NUS Centre for Cancer Research Yong Loo Lin School of Medicine Nationa

Adipose tissue (AT) is a complex connective tissue with a high relative proportion of adipocytes, which are specialized cells with the ability to store lipids in large droplets. AT is found in multiple discrete depots throughout the body, where it serves as the primary repository for excess calories. In addition, AT has an important role in functions as diverse as insulation, immunity and regulation of metabolic homeostasis. The Human Cell Atlas Adipose Bionetwork was established to support the generation of single-cell atlases of human AT as well as the development of unified approaches and consensus for cell annotation. Here, we provide a first roadmap from this bionetwork, including our suggested cell annotations for humans and mice, with the aim of describing the state of the field and providing guidelines for the production, analysis, interpretation and presentation of AT single-cell data. © 2025. Springer Nature Limited.

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Democratising Knowledge Representation with BioCypher

arXiv

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arXiv 2022年

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

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

关键词： Ontology

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Why is the Winner the Best?

Why is the Winner the Best?

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Conference on computer Vision and Pattern Recognition (CVPR)

作者： M. Eisenmann A. Reinke V. Weru M. D. Tizabi F. Isensee T. J. Adler S. Ali V. Andrearczyk M. Aubreville U. Baid S. Bakas N. Balu S. Bano J. Bernal S. Bodenstedt A. Casella V. Cheplygina M. Daum M. De Bruijne A. Depeursinge R. Dorent J. Egger D. G. Ellis S. Engelhardt M. Ganz N. Ghatwary G. Girard P. Godau A. Gupta L. Hansen K. Harada M. Heinrich N. Heller A. Hering A. Huaulmé P. Jannin A. E. Kavur O. Kodym M. Kozubek J. Li H. Li J. Ma C. Martín-Isla B. Menze A. Noble V. Oreiller N. Padoy S. Pati K. Payette T. Rädsch J. Rafael-Patiño V. Singh Bawa S. Speidel C. H. Sudre K. Van Wijnen M. Wagner D. Wei A. Yamlahi M. H. Yap C. Yuan M. Zenk A. Zia D. Zimmerer D. Aydogan B. Bhattarai L. Bloch R. Brüngel J. Cho C. Choi Q. Dou I. Ezhov C. M. Friedrich C. Fuller R. R. Gaire A. Galdran Á. García Faura M. Grammatikopoulou S. Hong M. Jahanifar I. Jang A. Kadkhodamohammadi I. Kang F. Kofler S. Kondo H. Kuijf M. Li M. Luu T. Martinčič P. Morais M. A. Naser B. Oliveira D. Owen S. Pang J. Park S. Park S. Płotka E. Puybareau N. Rajpoot K. Ryu N. Saeed A. Shephard P. Shi D. Štepec R. Subedi G. Tochon H. R. Torres H. Urien J. L. Vilaça K. A. Wahid H. Wang J. Wang L. Wang X. Wang B. Wiestler M. Wodzinski F. Xia J. Xie Z. Xiong S. Yang Y. Yang Z. Zhao K. Maier-Hein P. F. Jäger A. Kopp-Schneider L. Maier-Hein Division of Intelligent Medical Systems German Cancer Research Center (DKFZ) Heidelberg Germany Helmholtz Imaging German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Mathematics and Computer Science Heidelberg University Heidelberg Germany Division of Biostatistics German Cancer Research Center (DKFZ) Heidelberg Germany Division of Medical Image Computing German Cancer Research Center (DKFZ) Heidelberg Germany Faculty of Engineering and Physical Sciences School of Computing University of Leeds Leeds UK Institute of Informatics School of Management HES-SO Valais-Wallis University of Applied Sciences and Arts Western Switzerland Sierre Switzerland Department of Nuclear Medicine and Molecular Imaging Lausanne University Hospital Lausanne Switzerland Technische Hochschule Ingolstadt Ingolstadt Germany Center for Artificial Intelligence and Data Science for Integrated Diagnostics (AI2D) and Center for Biomedical Image Computing and Analytics (CBICA) University of Pennsylvania Philadelphia PA USA Department of Pathology and Laboratory Medicine Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Department of Radiology Perelman School of Medicine University of Pennsylvania Philadelphia PA USA Department of Radiology University of Washington Seattle WA USA Department of Computer Science Wellcome/EPSRC Centre for Interventional and Surgical Sciences (WEISS) University College London London UK Universitat Autònoma de Barcelona & Computer Vision Center Barcelona Spain Division of Translational Surgical Oncology National Center for Tumor Diseases (NCT/UCC) Dresden Dresden Germany Department of Advanced Robotics Istituto Italiano di Tecnologia Italy Department of Electronics Information and Bioengineering Politecnico di Milano Milan Italy IT University of Copenhagen Copenhagen Denmark Department of General Visceral and Transplantation Surgery Heidelberg University Hospital Heidelberg Germany Department of Radiology and Nuc

International benchmarking competitions have become fundamental for the comparative performance assessment of image analysis methods. However, little attention has been given to investigating what can be learnt from these competitions. Do they really generate scientific progress? What are common and successful participation strategies? What makes a solution superior to a competing method? To address this gap in the literature, we performed a multicenter study with all 80 competitions that were conducted in the scope of IEEE ISBI 2021 and MICCAI 2021. Statistical analyses performed based on comprehensive descriptions of the submitted algorithms linked to their rank as well as the underlying participation strategies revealed common characteristics of winning solutions. These typically include the use of multi-task learning (63%) and/or multi-stage pipelines (61%), and a focus on augmentation (100%), image preprocessing (97%), data curation (79%), and post-processing (66%). The “typical” lead of a winning team is a computer scientist with a doctoral degree, five years of experience in biomedical image analysis, and four years of experience in deep learning. Two core general development strategies stood out for highly-ranked teams: the reflection of the metrics in the method design and the focus on analyzing and handling failure cases. According to the organizers, 43% of the winning algorithms exceeded the state of the art but only 11% completely solved the respective domain problem. The insights of our study could help researchers (1) improve algorithm development strategies when approaching new problems, and (2) focus on open research questions revealed by this work.

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MET fusions and splicing variants convergently defne a subgroup of glioma sensitive to MET inhibitors

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Holistic Integrative Oncology 2022年第1期1卷 244-254页

作者： Ke-Nan Zhang Zheng Zhao Jing Chen Zhaoshi Bao Rui-Chao Chai Zhiyan Sun Lingxiang Wu Zhiliang Wang Hanjie Liu Quanhua Mu Huimin Hu Fan Zeng Zheng Wang Guanzhang Li Yuanhao Chang Qiangwei Wang Fan Wu Ying Zhang Yuqing Liu Chunjie Jiang Ulf Dietrich Kahlert Do-Hyun Nam Wei Zhang Chunsheng Kang Jiguang Wang Rongjie Tao Qianghu Wang Tao Jiang Beijing Neurosurgical Institute Capital Medical UniversityBeijingChina Department of Neurosurgery Beijing Tiantan HospitalCapital Medical UniversityBeijingChina Department of Bioinformatics Nanjing Medical UniversityNanjingJiangsuChina Department of Chemical and Biological Engineering Divison of Life ScienceCenter for Systems Biology and Human Healthand State Key Laboratory of Molecular NeuroscienceThe Hong Kong University of Science and TechnologyHong KongChina Division of Diabe‑tes Endocrinologyand MetabolismDepartment of MedicineBaylor College of MedicineHoustonTXUSA Molecular and Experimental Surgery Faculty of Medicine and University Medicine MagdeburgMagdeburgGermany Institute for Refractory Cancer Research Samsung Medical CenterSeoulRepublic of Korea Department of Health Science&Technology Samsung Advanced Institute for Health Sciences&Technology(SAIHST)Sungkyunkwan UniversitySeoulRepublic of Korea Department of Neurosurgery Samsung Medical CenterSungkyunkwan University School of MedicineSeoulRepublic of Korea Laboratory of Neuro‑Oncology Ministry of Education and Tianjin CityTianjin Neurological InstituteTianjin Medical University General HospitalKey Laboratory of PostNeuro Injury Neuro-Repair and Regeneration in Central Nervous SystemTianjinChina Departments of Neurosurgery Shandong Cancer Hospital and InstituteShandong UniversityJinanShandongChina Center of Brain Tumor Beijing Institute for Brain DisordersBeijingChina China National Clinical Research Center for Neurological Diseases BeijingChina Research Unit of Accurate Diagnosis Treatmentand Translational Medicine of Brain TumorsChinese Academy of Medical SciencesBeijingChina

Purpose:Our previous study has shown that PTPRZ1-MET(ZM)fusion is a viable target for MET inhibitors in ***,the diversity and prevalence of somatic MET alterations in difuse gliomas are still elusive and need to be extensively characterized for identifying novel therapeutic ***:Totally,1,350 glioma patients and 31 patient-derived cells were collected from the Chinese Glioma Genome Atlas(CGGA)and published *** kinds of MET fusions and/or splicing variants(MET F/SVs)were identifed by bioinformatical ***-cell RNA sequencing(scRNA-seq)were used for *** vitro experiments of drug resistance were conducted for the possibility of MET-targeted ***:MET F/SVs but not genomic amplifcation,were highly enriched in the secondary glioblastomas(sGBM)and marked worse *** molecular and scRNA-seq analysis revealed that MET F/SVs were induced in the course of glioma evolution and highly associated with MET *** in vitro and the clinical study showed that cells and patients harboring MET F/SVs have better response to MET ***:Our fndings expanded the percentage of gliomas with abnormal MET alterations and suggested that a subgroup of gliomas harboring MET F/SVs may beneft from MET-targeted therapy.

关键词： MET variation Secondary glioblastoma Biomarker MET inhibitor Precision neuro-oncology

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