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

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NATURE GENETICS 2023年第3期55卷 519-520页

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

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

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

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The Brain Tumor Segmentation (BraTS) Challenge 2023: Focus on Pediatrics (CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs)

arXiv

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arXiv 2023年

作者： Kazerooni, Anahita Fathi Khalili, Nastaran Liu, Xinyang Haldar, Debanjan Jiang, Zhifan Anwar, Syed Muhammed Albrecht, Jake Adewole, Maruf Anazodo, Udunna Anderson, Hannah Bagheri, Sina Baid, Ujjwal Bergquist, Timothy Borja, Austin J. Calabrese, Evan Chung, Verena Conte, Gian-Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Haldar, Shuvanjan Iglesias, Juan Eugenio Janas, Anastasia Johansen, Elaine Jones, Blaise V. Kofler, Florian LaBella, Dominic Lai, Hollie Anne Van Leemput, Koen Li, Hongwei Bran Maleki, Nazanin McAllister, Aaron S. Meier, Zeke Menze, Bjoern Moawad, Ahmed W. Nandolia, Khanak K. Pavaine, Julija Piraud, Marie Poussaint, Tina Prabhu, Sanjay P. Reitman, Zachary Rodriguez, Andres Rudie, Jeffrey D. Sanchez-Montano, Mariana Shaikh, Ibraheem Salman Shah, Lubdha M. Sheth, Nakul Shinohara, Russel Taki Tu, Wenxin Viswanathan, Karthik Wang, Chunhao Ware, Jeffrey B. Wiestler, Benedikt Wiggins, Walter Zapaishchykova, Anna Aboian, Mariam Bornhorst, Miriam de Blank, Peter Deutsch, Michelle Fouladi, Maryam Hoffman, Lindsey Kann, Benjamin Lazow, Margot Mikael, Leonie Nabavizadeh, Ali Packer, Roger Resnick, Adam Rood, Brian Vossough, Arastoo Bakas, Spyridon Linguraru, Marius George Children’s Hospital of Philadelphia PhiladelphiaPA United States Department of Neurosurgery University of Pennsylvania PhiladelphiaPA United States University of Pennsylvania PhiladelphiaPA United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Department of Neurosurgery Thomas Jefferson University Hospital PA United States Sage Bionetworks United States Lab Crestview Radiology Lagos Nigeria McGill University MontrealQC Canada 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 Department of Neurosurgery The University of Southern California CA United States Department of Radiology Duke University Medical Center United States Mayo Clinic MN United States Center for Global Health Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University Munich Germany TranslaTUM - Central Institute for Translational Cancer Research Technical University of Munich Germany Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States Biomedical Engineering Rutgers University New BrunswickNJ United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Yale University New HavenCT United States PrecisionFDA U.S. Food and Drug Administration Silver SpringMD United States Cincinnati Children’s Hospital Medical Center United States Helmholtz AI Helmholtz Munich Germany Department of Radiation Oncology Duke University Medical Center United States Department of Radiology Children’s Health Orange County CA United States Department of Applied Mathematics and Computer Science Technical University of Denmark Denmark Department of Radiol

Pediatric tumors of the central nervous system are the most common cause of cancer-related death in children. The five-year survival rate for high-grade gliomas in children is less than 20%. Due to their rarity, the diagnosis of these entities is often delayed, their treatment is mainly based on historic treatment concepts, and clinical trials require multi-institutional collaborations. The MICCAI Brain Tumor Segmentation (BraTS) Challenge is a landmark community benchmark event with a successful history of 12 years of resource creation for the segmentation and analysis of adult glioma. Here we present the CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge, which represents the first BraTS challenge focused on pediatric brain tumors with data acquired across multiple international consortia dedicated to pediatric neuro-oncology and clinical trials. The BraTS-PEDs 2023 challenge focuses on benchmarking the development of volumentric segmentation algorithms for pediatric brain glioma through standardized quantitative performance evaluation metrics utilized across the BraTS 2023 cluster of challenges. Models gaining knowledge from the BraTS-PEDs multi-parametric structural MRI (mpMRI) training data will be evaluated on separate validation and unseen test mpMRI dataof high-grade pediatric glioma. The CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs 2023 challenge brings together clinicians and AI/imaging scientists to lead to faster development of automated segmentation techniques that could benefit clinical trials, and ultimately the care of children with brain tumors. © 2023, CC BY.

关键词： Tumors

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Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility

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science 2020年第6523期370卷 000-000页

作者： Warren, Wesley C. Harris, R. Alan Haukness, Marina Fiddes, Ian T. Murali, Shwetha C. Fernandes, Jason Dishuck, Philip C. Storer, Jessica M. Raveendran, Muthuswamy Hillier, LaDeana W. Porubsky, David Mao, Yafei Gordon, David Vollger, Mitchell R. Lewis, Alexandra P. Munson, Katherine M. DeVogelaere, Elizabeth Armstrong, Joel Diekhans, Mark Walker, Jerilyn A. Tomlinson, Chad Graves-Lindsay, Tina A. Kremitzki, Milinn Salama, Sofie R. Audano, Peter A. Escalona, Merly Maurer, Nicholas W. Antonacci, Francesca Mercuri, Ludovica Maggiolini, Flavia A. M. Catacchio, Claudia Rita Underwood, Jason G. O'Connor, David H. Sanders, Ashley D. Korbel, Jan O. Ferguson, Betsy Kubisch, H. Michael Picker, Louis Kalin, Ned H. Rosene, Douglas Levine, Jon Abbott, David H. Gray, Stanton B. Sanchez, Mar M. Kovacs-Balint, Zsofia A. Kemnitz, Joseph W. Thomasy, Sara M. Roberts, Jeffrey A. Kinnally, Erin L. Capitanio, John P. Skene, J. H. Pate Platt, Michael Cole, Shelley A. Green, Richard E. Ventura, Mario Wiseman, Roger W. Paten, Benedict Batzer, Mark A. Rogers, Jeffrey Eichler, Evan E. Department of Animal Sciences Bond Life Sciences Center University of Missouri Columbia MO 65211 USA. Department of Surgery School of Medicine University of Missouri Columbia MO 65211 USA. Institute of Data Science and Informatics University of Missouri Columbia MO 65211 USA. Human Genome Sequencing Center Department of Molecular and Human Genetics Baylor College of Medicine Houston TX 77030 USA. Computational Genomics Laboratory University of California-Santa Cruz Santa Cruz CA 95064 USA. Inscripta Inc. Boulder CO 80301 USA. Department of Genome Sciences University of Washington Seattle WA 98195 USA. Howard Hughes Medical Institute University of Washington Seattle WA 98195 USA. Department of Biomolecular Engineering University of California-Santa Cruz Santa Cruz CA 95064 USA. Department of Biological Sciences Louisiana State University Baton Rouge LA 70803 USA. Institue for Systems Biology Seattle WA 98109 USA. McDonnell Genome Institute Washington University St. Louis MO 63108 USA. Department of Biology University of Bari ’Aldo Moro’ 70125 Bari Italy. Pacific Biosciences of California Seattle WA 94025 USA. Department of Pathology and Laboratory Medicine Wisconsin National Primate Research Center University of Wisconsin-Madison Madison WI 53711 USA. European Molecular Biology Laboratory Genome Biology Unit Heidelberg Germany. Division of Genetics Oregon National Primate Research Center Oregon Health and Science University Beaverton OR 97006 USA. Tulane National Primate Research Center Covington LA 70433 USA. Oregon National Primate Research Center and Vaccine and Gene Therapy Institute Oregon Health Sciences University Beaverton OR 97006 USA. Department of Psychiatry University of Wisconsin School of Medicine and Public Health Madison WI 53719 USA. Department of Anatomy and Neurobiology Boston University School of Medicine Boston MA 02118 USA. Department of Neuroscience University of Wisconsin Madison WI 53175 USA. Wisconsin N

The rhesus macaque (Macaca mulatta) is the most widely studied nonhuman primate (NHP) in biomedical research. We present an updated reference genome assembly (Mmul_10, contig N50 = 46 Mbp) that increases the sequence contiguity 120-fold and annotate it using 6.5 million full-length transcripts, thus improving our understanding of gene content, isoform diversity, and repeat organization. With the improved assembly of segmental duplications, we discovered new lineage-specific genes and expanded gene families that are potentially informative in studies of evolution and disease susceptibility. Whole-genome sequencing (WGS) data from 853 rhesus macaques identified 85.7 million single-nucleotide variants (SNVs) and 10.5 million indel variants, including potentially damaging variants in genes associated with human autism and developmental delay, providing a framework for developing noninvasive NHP models of human disease.

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Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity (vol 50, pg 765, 2017)

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NATURE GENETICS 2018年第5期50卷 765-766页

作者： Turcot, Valerie Lu, Yingchang Highland, Heather M. Schurmann, Claudia Justice, Anne E. Fine, Rebecca S. Bradfield, Jonathan P. Esko, Tonu Giri, Ayush Graff, Mariaelisa Guo, Xiuqing Hendricks, Audrey E. Karaderi, Tugce Lempradl, Adelheid Locke, Adam E. Mahajan, Anubha Marouli, Eirini Sivapalaratnam, Suthesh Young, Kristin L. Alfred, Tamuno Feitosa, Mary F. Masca, Nicholas G. D. Manning, Alisa K. Medina-Gomez, Carolina Mudgal, Poorva Ng, Maggie C. Y. Reiner, Alex P. Vedantam, Sailaja Willems, Sara M. Winkler, Thomas W. Abecasis, Goncalo Aben, Katja K. Alam, Dewan S. Alharthi, Sameer E. Allison, Matthew Amouyel, Philippe Asselbergs, Folkert W. Auer, Paul L. Balkau, Beverley Bang, Lia E. Barroso, Ines Bastarache, Lisa Benn, Marianne Bergmann, Sven Bielak, Lawrence F. Bluher, Matthias Boehnke, Michael Boeing, Heiner Boerwinkle, Eric Boger, Carsten A. Bork-Jensen, Jette Bots, Michiel L. Bottinger, Erwin P. Bowden, Donald W. Brandslund, Ivan Breen, Gerome Brilliant, Murray H. Broer, Linda Brumat, Marco Burt, Amber A. Butterworth, Adam S. Campbell, Peter T. Cappellani, Stefania Carey, David J. Catamo, Eulalia Caulfield, Mark J. Chambers, John C. Chasman, Daniel I. Chen, Yii-Der I. Chowdhury, Rajiv Christensen, Cramer Chu, Audrey Y. Cocca, Massimiliano Collins, Francis S. Cook, James P. Corley, Janie Galbany, Jordi Corominas Cox, Amanda J. Crosslin, David S. Cuellar-Partida, Gabriel D'Eustacchio, Angela Danesh, John Davies, Gail Bakker, Paul I. W. Groot, Mark C. H. Mutsert, Renee Deary, Ian J. Dedoussis, George Demerath, Ellen W. Heijer, Martin Hollander, Anneke I. Ruijter, Hester M. Dennis, Joe G. Denny, Josh C. Angelantonio, Emanuele Drenos, Fotios Du, Mengmeng Dube, Marie-Pierre Dunning, Alison M. Easton, Douglas F. Edwards, Todd L. Ellinghaus, David Ellinor, Patrick T. Elliott, Paul Evangelou, Evangelos Farmaki, Aliki-Eleni Farooqi, I. Sadaf Faul, Jessica D. Fauser, Sascha Feng, Shuang Ferrannini, Ele Ferrieres, Jean Florez, Jose C. Ford, Ian Fornage, Myriam Franco, Oscar H. Franke, Andre Franks, Paul W. Friedrich, Ne Montreal Heart Institute Université de Montréal Montreal Quebec Canada Division of Epidemiology Department of Medicine Vanderbilt-Ingram Cancer Center Vanderbilt Epidemiology Center Vanderbilt University School of Medicine Nashville TN USA Charles Bronfman Institute for Personalized Medicine Icahn School of Medicine at Mount Sinai New York NY USA Genetics of Obesity and Related Metabolic Traits Program Icahn School of Medicine at Mount Sinai New York NY USA Department of Epidemiology University of North Carolina Chapel Hill NC USA Human Genetics Center University of Texas School of Public Health University of Texas MD Anderson Cancer Center UTHealth Graduate School of Biomedical Sciences University of Texas Health Science Center at Houston Houston TX USA Broad Institute of MIT and Harvard Cambridge MA USA Department of Genetics Harvard Medical School Boston MA USA Division of Endocrinology and Center for Basic and Translational Obesity Research Boston Children’s Hospital Boston MA USA Center for Applied Genomics Division of Human Genetics Children’s Hospital of Philadelphia Philadelphia PA USA Quantinuum Research LLC San Diego CA USA Estonian Genome Center University of Tartu Tartu Estonia Division of Epidemiology Department of Medicine Institute for Medicine and Public Health Vanderbilt Genetics Institute Vanderbilt University Nashville TN USA Institute for Translational Genomics and Population Sciences LABioMed at Harbor-UCLA Medical Center Torrance CA USA Wellcome Trust Sanger Institute Hinxton UK Department of Mathematical and Statistical Sciences University of Colorado Denver CO USA Wellcome Trust Centre for Human Genetics University of Oxford Oxford UK Department of Biological Sciences Faculty of Arts and Sciences Eastern Mediterranean University Famagusta Cyprus Max Planck Institute of Immunobiology and Epigenetics Freiburg Germany Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor

Genome-wide association studies (GWAS) have identified >250 loci for body mass index (BMI), implicating pathways related to neuronal biology. Most GWAS loci represent clusters of common, noncoding variants from which pinpointing causal genes remains challenging. Here we combined data from 718,734 individuals to discover rare and low-frequency (minor allele frequency (MAF) < 5%) coding variants associated with BMI. We identified 14 coding variants in 13 genes, of which 8 variants were in genes (ZBTB7B, ACHE, RAPGEF3, RAB21, ZFHX3, ENTPD6, ZFR2 and ZNF169) newly implicated in human obesity, 2 variants were in genes (MC4R and KSR2) previously observed to be mutated in extreme obesity and 2 variants were in GIPR. The effect sizes of rare variants are ~10 times larger than those of common variants, with the largest effect observed in carriers of an MC4R mutation introducing a stop codon (***35Ter, MAF = 0.01%), who weighed ~7 kg more than non-carriers. Pathway analyses based on the variants associated with BMI confirm enrichment of neuronal genes and provide new evidence for adipocyte and energy expenditure biology, widening the potential of genetically supported therapeutic targets in obesity.

关键词： Genome-wide association studies Obesity

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Publisher Correction: Statistically and functionally fine-mapped blood eQTLs and pQTLs from 1,405 humans reveal distinct regulation patterns and disease relevance

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Nature genetics 2024年第10期56卷 2281页

作者： Qingbo S Wang Takanori Hasegawa Ho Namkoong Ryunosuke Saiki Ryuya Edahiro Kyuto Sonehara Hiromu Tanaka Shuhei Azekawa Shotaro Chubachi Yugo Takahashi Saori Sakaue Shinichi Namba Kenichi Yamamoto Yuichi Shiraishi Kenichi Chiba Hiroko Tanaka Hideki Makishima Yasuhito Nannya Zicong Zhang Rika Tsujikawa Ryuji Koike Tomomi Takano Makoto Ishii Akinori Kimura Fumitaka Inoue Takanori Kanai Koichi Fukunaga Seishi Ogawa Seiya Imoto Satoru Miyano Yukinori Okada Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. qingbow@m.u-tokyo.ac.jp. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. qingbow@m.u-tokyo.ac.jp. M&D Data Science Center Tokyo Medical and Dental University Tokyo Japan. Department of Infectious Diseases Keio University School of Medicine Tokyo Japan. hounamugun@keio.jp. Department of Pathology and Tumor Biology Kyoto University Kyoto Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Department of Respiratory Medicine and Clinical Immunology Osaka University Graduate School of Medicine Suita Japan. Department of Genome Informatics Graduate School of Medicine University of Tokyo Tokyo Japan. Division of Pulmonary Medicine Department of Medicine Keio University School of Medicine Tokyo Japan. Faculty of Medicine Osaka University Suita Japan. Center for Data Sciences Brigham and Women's Hospital Harvard Medical School Boston MA USA. Divisions of Genetics and Rheumatology Department of Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. Program in Medical and Population Genetics Broad Institute of MIT and Harvard Cambridge MA USA. Laboratory of Children's Health and Genetics Division of Health Science Osaka University Graduate School of Medicine Suita Japan. Department of Pediatrics Osaka University Graduate School of Medicine Suita Japan. Division of Genome Analysis Platform Development National Cancer Center Research Institute Tokyo Japan. Institute for the Advanced Study of Human Biology (WPI-ASHBi) Kyoto University Kyoto Japan. Health Science Research and Development Center (HeRD) Tokyo Medical and Dental University Tokyo Japan. Laboratory of Veterinary Infectious Disease Department of Veterinary Medicine Kitasato University Tokyo Japan. Department of Respiratory Medicine Nagoya University Graduate School of Medicine Nagoya Japan. In

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The Brain Tumor Segmentation in Pediatrics (BraTS-PEDs) Challenge: Focus on Pediatrics (CBTN-CONNECT-DIPGR-ASNR-MICCAI BraTS-PEDs)

arXiv

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arXiv 2024年

作者： Kazerooni, Anahita Fathi Khalili, Nastaran Liu, Xinyang Gandhi, Deep Jiang, Zhifan Anwar, Syed Muhammed Albrecht, Jake Adewole, Maruf Anazodo, Udunna Anderson, Hannah Baid, Ujjwal Bergquist, Timothy Borja, Austin J. Calabrese, Evan Chung, Verena Conte, Gian-Marco Dako, Farouk Eddy, James Ezhov, Ivan Familiar, Ariana Farahani, Keyvan Franson, Andrea Gottipati, Anurag Haldar, Shuvanjan Iglesias, Juan Eugenio Janas, Anastasia Johansen, Elaine Jones, Blaise V. Khalili, Neda Kofler, Florian LaBella, Dominic Lai, Hollie Anne Van Leemput, Koen Li, Hongwei Bran Maleki, Nazanin McAllister, Aaron S. Meier, Zeke Menze, Bjoern Moawad, Ahmed W. Nandolia, Khanak K. Pavaine, Julija Piraud, Marie Poussaint, Tina Prabhu, Sanjay P. Reitman, Zachary Rudie, Jeffrey D. Sanchez-Montano, Mariana Shaikh, Ibraheem Salman Sheth, Nakul Tu, Wenxin Wang, Chunhao Ware, Jeffrey B. Wiestler, Benedikt Zapaishchykova, Anna Bornhorst, Miriam Deutsch, Michelle Fouladi, Maryam Lazow, Margot Mikael, Leonie Hummel, Trent Kann, Benjamin de Blank, Peter Hoffman, Lindsey Aboian, Mariam Nabavizadeh, Ali Packer, Roger Bakas, Spyridon Resnick, Adam Rood, Brian Vossough, Arastoo Linguraru, Marius George Children’s Hospital of Philadelphia PhiladelphiaPA United States Department of Neurosurgery University of Pennsylvania PhiladelphiaPA United States University of Pennsylvania PhiladelphiaPA United States Sheikh Zayed Institute for Pediatric Surgical Innovation Children’s National Hospital WashingtonDC United States Sage Bionetworks United States Lab Crestview Radiology Lagos Nigeria McGill University MontrealQC Canada Department of Radiology Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Division of Computational Pathology Department of Pathology and Laboratory Medicine Indiana University School of Medicine IndianapolisIN United States Department of Neurosurgery The University of Southern California CA United States Department of Radiology Duke University Medical Center DurhamNC United States Mayo Clinic MN United States Center for Global Health Perelman School of Medicine University of Pennsylvania PhiladelphiaPA United States Department of Informatics Technical University Munich Germany TranslaTUM - Central Institute for Translational Cancer Research Technical University of Munich Germany Cancer Imaging Program National Cancer Institute National Institutes of Health BethesdaMD United States C. S. Mott Children’s Hospital University of Michigan MI United States Biomedical Engineering Rutgers University New BrunswickNJ United States Athinoula A Martinos Center for Biomedical Imaging Massachusetts General Hospital BostonMA United States Yale University New HavenCT United States PrecisionFDA U.S. Food and Drug Administration Silver SpringMD United States Cincinnati Children’s Hospital Medical Center OH United States Helmholtz AI Helmholtz Munich Germany Department of Radiation Oncology Duke University Medical Center DurhamNC United States Department of Radiology Children’s Health Orange County CA United States Department of Applied Mathematics and Computer Science Technical University of De

关键词： Deep learning

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THE ARCTIC

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Bulletin of the American Meteorological Society 2024年第8期105卷 S277-S330页

作者： Druckenmiller, M.L. Thoman, R.L. Moon, T.A. National Snow and Ice Data Center Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder Boulder Colorado International Arctic Research Center University of Alaska Fairbanks Fairbanks Alaska National Snow and Ice Data Center Cooperative Institute for Research in Environmental Sciences University of Colorado Boulder Colorado Section for Glaciers Ice and Snow Norwegian Water Resources and Energy Directorate Oslo Norway School of Informatics Computing and Cyber Systems Northern Arizona University Flagstaff Arizona Biospherical Instruments Inc. San Diego California Geophysical Institute University of Alaska Fairbanks Fairbanks Alaska Plant Soils and Climate Department Utah State University Logan Utah Norwegian Institute for Nature Research Trondheim Norway FRAM – High North Research Centre for Climate and the Environment Tromsø Norway Geological Survey of Denmark and Greenland (GEUS) Copenhagen Denmark NOAA/NWS Alaska Region Anchorage Alaska Alaska Native Tribal Health Consortium Anchorage Alaska Geological Survey of Canada Natural Resources Canada Ottawa Canada NOAA Chemical Sciences Laboratory Boulder Colorado Arctic Geophysics Department University Centre in Svalbard Longyearbyen Norway Geology Department University Centre in Svalbard Longyearben Norway Centre National de Recherches Météorologiques Météo-France/CNRS Toulouse France Climate Research Division Environment and Climate Change Canada Toronto Canada Norwegian Polar Institute Fram Centre Tromsø Norway Danish Meteorological Institute Copenhagen Denmark Department of Physics University of Toronto Toronto Canada Department of Environmental Sciences University of Virginia Charlottesville Virginia Department of Geographical Sciences University of Maryland College Park Maryland University of Liège Liège Belgium Environment and Climate Change Canada Toronto Canada Northern Rocky Mountain Science Center U.S. Geological Survey Bozeman Montana Arctic C

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Erratum for Wang et al., "Clinically Applicable System for Rapidly Predicting Enterococcus faecium Susceptibility to Vancomycin"

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Microbiology spectrum 2022年第1期10卷 e0261021页

作者： Hsin-Yao Wang Chia-Ru Chung Chao-Jung Chen Ko-Pei Lu Yi-Ju Tseng Tzu-Hao Chang Min-Hsien Wu Wan-Ting Huang Ting-Wei Lin Tsui-Ping Liu Tzong-Yi Lee Jorng-Tzong Horng Jang-Jih Lu Department of Laboratory Medicine Chang Gung Memorial Hospitalgrid.413801.f at Linkou Taoyuan City Taiwan. Ph.D. Program in Biomedical Engineering Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Computer Science and Information Engineering National Central Universitygrid.37589.30 Taoyuan City Taiwan. Graduate Institute of Integrated Medicine China Medical Universitygrid.254145.3 Taichung Taiwan. Proteomics Core Laboratory China Medical Universitygrid.254145.3 Hospital Taichung Taiwan. Graduate Program in Biomedical Information Yuan-Ze University Taoyuan City Taiwan. Department of Information Management Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Graduate Institute of Biomedical Informatics Taipei Medical University Taipei City Taiwan. Clinical Big Data Research Center Taipei Medical University Hospital Taipei City Taiwan. Graduate Institute of Biomedical Engineering Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Division of Haematology/Oncology Department of Internal Medicine Chang Gung Memorial Hospitalgrid.413801.f at Linkou Taoyuan City Taiwan. Biosensor Group Biomedical Engineering Research Center Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Pathology Kaohsiung Chang Gung Memorial Hospitalgrid.413801.f and Chang Gung University College of Medicine Kaohsiung Taiwan. School of Life and Health Sciences The Chinese University of Hong Kong Shenzhen China. Warshel Institute for Computational Biology The Chinese University of Hong Kong Shenzhen China. Department of Bioinformatics and Medical Engineering Asia University Taichung City Taiwan. School of Medicine Chang Gung Universitygrid.145695.a Taoyuan City Taiwan. Department of Medical Biotechnology and Laboratory Science Chang Gung Universitygrid.145695.a Taoyuan City Taiwan.

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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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The eleven-item Alcohol, Smoking and Substance Involvement Screening Test (ASSIST-11): Cross-cultural psychometric evaluation across 42 countries

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Journal of Psychiatric Research 2023年第1期165卷 16-27页

作者： Lee, Chih-Ting Lin, Chung-Ying Koós, Mónika Nagy, Léna Kraus, Shane W. Demetrovics, Zsolt Potenza, Marc N. Ballester-Arnal, Rafael Batthyány, Dominik Bergeron, Sophie Billieux, Joël Burkauskas, Julius Cárdenas-López, Georgina Carvalho, Joana Castro-Calvo, Jesús Chen, Lijun Ciocca, Giacomo Corazza, Ornella Csako, Rita I. Fernandez, David P. Fernandez, Elaine F. Fujiwara, Hironobu Fuss, Johannes Gabrhelík, Roman Gewirtz-Meydan, Ateret Gjoneska, Biljana Gola, Mateusz Grubbs, Joshua B. Hashim, Hashim T. Islam, Md. Saiful Ismail, Mustafa Jiménez-Martínez, Martha Jurin, Tanja Kalina, Ondrej Klein, Verena Költő, András Lee, Sang-Kyu Lewczuk, Karol Lochner, Christine López-Alvarado, Silvia Lukavská, Kateřina Mayta-Tristán, Percy Milea, Ionut Miller, Dan J. Orosová, Oľga Orosz, Gábor Ponce, Fernando P. Quintana, Gonzalo R. Garzola, Gabriel C.Quintero Ramos-Diaz, Jano Rigaud, Kévin Rousseau, Ann Scanavino, Marco De Tubino Schulmeyer, Marion K. Sharan, Pratap Shibata, Mami Shoib, Sheikh Sigre-Leirós, Vera Sniewski, Luke Spasovski, Ognen Steibliene, Vesta Stein, Dan J. Strizek, Julian Ünsal, Berk C. Vaillancourt-Morel, Marie-Pier Van Hout, Marie Claire Bőthe, Beáta Department of Family Medicine National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Institute of Allied Health Sciences College of Medicine National Cheng Kung University Tainan Taiwan Biostatistics Consulting Center National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan Taiwan Doctoral School of Psychology ELTE Eötvös Loránd University Budapest Hungary Institute of Psychology ELTE Eötvös Loránd University Budapest Hungary Department of Psychology University of Nevada Las Vegas Las Vegas NV United States Centre of Excellence in Responsible Gaming University of Gibraltar Gibraltar Gibraltar Yale University School of Medicine New Haven CT United States Connecticut Council on Problem Gambling Wethersfield CT United States Departmento de Psicología Básica Clínica y Psicobiología University Jaume I of Castellón Spain Institute for Behavioural Addictions Sigmund Freud University Vienna Austria Département de Psychologie Université de Montréal Montréal Canada Institute of Psychology University of Lausanne Lausanne Switzerland Center for Excessive Gambling Addiction Medicine Lausanne University Hospitals (CHUV) Lausanne Switzerland Laboratory of Behavioral Medicine Neuroscience Institute Lithuanian University of Health Sciences Lithuania Virtual Teaching and Cyberpsychology Laboratory School of Psychology National Autonomous University of Mexico Mexico William James Center for Research Departamento de Educação e Psicologia Universidade de Aveiro CPUP: Center for Psychology at Porto University Aveiro Portugal Department of Personality Assessment and Psychological Treatments University of Valencia Spain Department of Psychology College of Humanity and Social Science Fuzhou University China Section of Sexual Psychopathology Department of Dynamic and Clinical Psychology and Health Studies Sapienza University of Rome Rome Italy Department of Clinical Pharmaceuti

The Alcohol, Smoking and Substance Involvement Screening Test (ASSIST) is an instrument to screen substance-use-related health risks. However, little is known whether the ASSIST could be further shortened while remaining psychometrically sound across different countries, languages, gender identities, and sexual-orientation-based groups. The study aimed to validate a shortened 11-item ASSIST (ASSIST-11). Using the International Sex Survey data, 82,243 participants (M _age = 32.39 years) across 42 countries and 26 languages completed questions from the ASSIST-11 regarding gender identity, sexual orientation, and other information. Confirmatory factor analysis (CFA) and multigroup CFA (MGCFA) evaluated the ASSIST-11's structure and tested measurement invariance across groups. Cronbach's α and McDonald's ω were used to examine the internal consistency. Cohen's d and independent t-tests were used to examine known-group validity. The ASSIST-11 was unidimensional across countries, languages, age groups, gender identities (i.e., men, women, and gender-diverse individuals), and sexual orientations (i.e., heterosexual and sexual minority individuals). Cronbach's α was 0.63 and McDonald's ω was 0.68 for the ASSIST-11. Known-group validity was supported by Cohen's d (range between 0.23 and 0.40) with significant differences (p-values<0.001). The ASSIST-11 is a modified instrument with a unidimensional factor structure across different languages, age groups, countries, gender identities, and sexual orientations. The low internal consistency of the ASSIST-11 might be acceptable as it assesses a broad concept (i.e., use of several different substances). Healthcare providers and researchers may use the ASSIST-11 to quickly assess substance-use information from general populations and evaluate the need to follow up with more detailed questions about substance use. © 2023 Elsevier Ltd

关键词： Addictive behaviors Cross-cultural study Factor structure Measurement invariance Psychometrics

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