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Digital is the New Blood: Enabling the Present and the Future

Alzheimer's & Dementia 2023年第S21期19卷

作者： Rhoda Au Zachary T Popp Spencer Low Phillip H Hwang Ileana De Anda-Duran Stephanie Li Salman Rahman Huitong Ding Akwaugo Igwe Cody Karjadi Ting Fang Alvin Ang Sherral A. Devine Ashita S Gurnani Jesse B. Mez Lindsay A. Farrer Preeti Sunderaraman Honghuang Lin Vijaya B. Kolachalama Boston University School of Public Health Boston MA USA Framingham Heart Study Boston University School of Medicine Boston MA USA Davos Alzheimer’s Collaborative Philadelphia PA USA Department of Epidemiology Boston University School of Public Health Boston MA USA Boston University Chobanian & Avedisian School of Medicine Boston MA USA Department of Neurology Boston University Chobanian & Avedisian School of Medicine Boston MA USA Boston University Alzheimer’s Disease Research Center Boston University Chobanian & Avedisian School of Medicine Boston MA USA Department of Anatomy and Neurobiology Boston University Chobanian & Avedisian School of Medicine Boston MA USA Framingham Heart Study Boston University Chobanian & Avedisian School of Medicine Boston MA USA Boston University School of Public Heatlh Boston MA USA Tulane School of Public Health and Tropical Medicine New Orleans LA USA Slone Epidemiology Center Boston University Chobanian & Avedisian School of Medicine Boston MA USA Framigham Heart Study - Boston University Framingham MA USA Boston University Bioinformatics Program Boston MA USA Departments of Medicine (Biomedical Genetics) Neurology Ophthalmology Biostatistics and Epidemiology Boston University Schools of Medicine and Public Health Boston MA USA Department of Neurology - Boston University Chobanian & Avedisian School of Medicine Boston MA USA University of Massachusetts Medical School Worcester MA USA Framingham Heart Study/Boston University BOSTON MA USA Hariri Institute for Computing and Computational Science & Engineering Boston University Boston MA USA College of Arts & Sciences Boston University Boston MA USA Faculty of Computing & Data Sciences Boston University Boston MA USA Boston University Alzheimer’s Disease Center Boston University Chobanian & Avedisian School of Medicine Boston MA USA Whitaker Cardiovascular Institute Boston University Chobanian & Avedisian School of Medicine Boston MA USA

Background Digital is the new blood, where collection, use, and storage of raw digital data streams enabled by technology-embedded sensors are replacing analog methods. Analyses of digital data extend beyond current applications, analogous to previously stored blood currently be used for omics/biomarker research. Today digital technologies are used to measure Alzheimer’s disease (AD)-related clinical symptoms (e.g., cognition, function, and behavior), but future possibilities remain to be determined. Importantly, digital data collection can go beyond current intermittent sampling by employing internet-connected applications and devices that allow real-time monitoring and accurate detection of changes, even within a widely heterogeneous spectrum. Method Beginning in 2005, the Framingham Heart study (FHS) began digitally recording participants’ spoken responses to neuropsychological (NP) test questions, and in 2011 extended to a digital pen to record written responses. The emergence of wearable devices and smartphone applications has led to an expanded use of digital technologies beyond recordings during NP assessments. The Boston University Alzheimer’s Disease Research Center (BU ADRC) leverages digital sensors in multiple internet-connected devices that longitudinally collect digital data, in both in-person and remote settings. Result The first publication involving FHS digital data was in 2016; the remaining (n> 17) have been from 2020-current. Digital data measuring cognition, function and behavior are being collected through the BU ADRC, where results to date indicate nearly 100% and 75% uptake of active and passive engagement applications, respectively, and 95% uptake for wearable devices (n = 60). Longitudinal assessments include > 3 months for ∼50 participants; > 1 year for n∼21 participants. Conclusion Opportunities for improved trial outcome measurement are evident in the broad range of outcomes digital sensors capture beyond traditional research methodologi

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Limits on Simultaneous and Delayed Optical Emission from Well-localized Fast Radio Bursts

arXiv

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arXiv 2022年

作者： Hiramatsu, Daichi Berger, Edo Metzger, Brian D. Gomez, Sebastian Bieryla, Allyson Arcavi, Iair Howell, D. Andrew McKinven, Ryan Tominaga, Nozomu Center for Astrophysics Harvard & Smithsonian 60 Garden Street CambridgeMA02138-1516 United States The NSF AI Institute for Artificial Intelligence and Fundamental Interactions United States Department of Physics Columbia Astrophysics Laboratory Columbia University 538 West 120th Street New YorkNY10027 United States Center for Computational Astrophysics Flatiron Institute New YorkNY10010 United States Space Telescope Science Institute 3700 San Martin Dr BaltimoreMD21218 United States School of Physics and Astronomy Tel Aviv University Tel Aviv69978 Israel CIFAR Azrieli Global Scholars program CIFAR 661 University Ave. TorontoONM5G 1M1 Canada Las Cumbres Observatory 6740 Cortona Drive Suite 102 GoletaCA93117-5575 United States Department of Physics University of California Santa BarbaraCA93106-9530 United States Department of Physics McGill University 3600 rue University MontréalQCH3A 2T8 Canada McGill Space Institute McGill University 3550 rue University MontréalQCH3A 2A7 Canada National Astronomical Observatory of Japan National Institutes of Natural Sciences 2-21-1 Osawa Mitaka Tokyo181-8588 Japan 2-21-1 Osawa Mitaka Tokyo181-8588 Japan Department of Physics Faculty of Science and Engineering Konan University 8-9-1 Okamoto Hyogo Kobe658-8501 Japan The University of Tokyo Institutes for Advanced Study The University of Tokyo 5-1-5 Kashiwanoha Chiba Kashiwa277-8583 Japan

We present the largest compilation to date of optical observations during and following fast radio bursts (FRBs). The data set includes our dedicated simultaneous and follow-up observations, as well as serendipitous archival survey observations, for a sample of 15 well-localized FRBs: eight repeating and seven one-off sources. Our simultaneous (and nearly simultaneous with a 0.4 s delay) optical observations of 13 (1) bursts from the repeating FRB 20220912A provide the deepest such limits to date for any extragalactic FRB, reaching a luminosity limit of νLν 1042 erg s−1 ( 2 ×1041 erg s−1) with 15–400 s exposures;an optical-flux-to-radio-fluence ratio of fopt/Fradio 10−7 ms−1 ( 10−8 ms−1);and flux ratio of fopt/fradio 0.02– 2 × 10−5 ( 10−6) on millisecond to second timescales. These simultaneous limits provide useful constraints in the context of FRB emission models, such as the pulsar magnetosphere and pulsar nebula models. Interpreting all available optical limits in the context of the synchrotron maser model, we find that they constrain the flare energies to 1043–1049 erg (depending on the distances of the various repeating FRBs, with 1039 erg for the Galactic SGR 1935+2154). These limits are generally at least an order of magnitude larger than those inferred from the FRBs themselves, although in the case of FRB 20220912A our simultaneous and rapid followup observations severely restrict the model parameter space. We conclude by exploring the potential of future simultaneous and rapid-response observations with large optical telescopes. © 2022, CC BY.

关键词： Pulsars

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Quantifying the trade-offs between energy consumption and salt removal rate in membrane-free cation intercalation desalination

arXiv

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arXiv 2018年

作者： Liu, Sizhe Smith, Kyle C. Department of Mechanical Science and Engineering University of Illinois at Urbana-Champaign UrbanaIL61801 United States Department of Materials Science and Engineering University of Illinois at Urbana-Champaign UrbanaIL61801 United States Computational Science and Engineering Program University of Illinois at Urbana-Champaign UrbanaIL61801 United States Beckman Institute for Advanced Study University of Illinois at Urbana-Champaign UrbanaIL61801 United States

Electrochemical desalination devices that use redox-active cation intercalation electrodes show promise for desalination of salt-rich water resources with high water recovery and low energy consumption. While previous modeling and experiments used ion-exchange membranes to maximize charge efciency, here a membrane-free alternative is evaluated to reduce capital cost by using a porous diaphragm to separate Na1+xNiFe(CN)6 electrodes. Two-dimensional porous-electrode modeling shows that, while charge eficiency losses are inherent to a diaphragm-based architecture, charge eficiency values approaching the anion transference number (61% for NaCl) are achievable for diaphragms with suFIciently low salt conductance. Closed-form equations are thereby derived that relate charge eficiency to the non-dimensional Pfeclet and Damkohler numbers that enable the selection of current and ow velocity to produce a desired degree-of-desalination. Simulations using these conditions are used to quantify the tradeo_s between energy consumption and salt removal rate for diaphragmbased cells operated at a range of currents. The simulated distributions of reactions are shown to result from the local salt concentration variations within electrodes using di_usion-potential theory. We also simulate the cycling dynamics of various ow configurations and show that ow-through electrodes exceed the degree-of-desalination compared with ow-by and ow-behind configurations due to solution stagnation within electrodes. Copyright © 2018, The Authors. All rights reserved.

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Genome-wide association study of long COVID

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Nature Genetics 2025年 1-16页

作者： Lammi, Vilma Nakanishi, Tomoko Jones, Samuel E. Andrews, Shea J. Karjalainen, Juha Cortés, Beatriz O’Brien, Heath E. Ochoa-Guzman, Ana Fulton-Howard, Brian E. Broberg, Martin Haapaniemi, Hele H. Kanai, Masahiro Pirinen, Matti Schmidt, Axel Mitchell, Ruth E. Mousas, Abdou Mangino, Massimo Huerta-Chagoya, Alicia Sinnott-Armstrong, Nasa Cirulli, Elizabeth T. Vaudel, Marc Kwong, Alex S. F. Maiti, Amit K. Marttila, Minttu M. Posner, Daniel C. Rodriguez, Alexis A. Batini, Chiara Minnai, Francesca Dearman, Anna R. Warmerdam, C. A. Robert Sequeros, Celia B. Winkler, Thomas W. Jordan, Daniel M. Rešcenko, Raimonds Miano, Lorenzo Lane, Jacqueline M. Chung, Ryan K. Guillen-Guio, Beatriz Leavy, Olivia C. Carvajal-Silva, Laura Aguilar-Valdés, Kevin Frangione, Erika Guare, Lindsay Vergasova, Ekaterina Marouli, Eirini Striano, Pasquale Zainulabid, Ummu Afeera Kumar, Ashutosh Ahmad, Hajar Fauzan Edahiro, Ryuya Azekawa, Shuhei Maj, Carlo Pensel, Max C. Miller, Abigail Nöthen, Markus M. Behzad, Pari Schultz, Sonja Heggemann, Julia Balla, Daniella Morrison, David R. Mooser, Vincent Perley, Danielle Ragoussis, Jiannis Rousseau, Simon Shi, Fangyi Lathrop, G. Mark Yanishevsky, Solomia Laurent, Laetitia Auld, Daniel Bertrand, Mylene Boisclair, Ariane Bourque, Guillaume Bujold, David Durand, Madeleine Adra, Darin St-Cyr, Janick Niemi, Mari E. K. Iyengar, Sudha K. Cai, Tianxi Cho, Kelly Sarvadhavabhatla, Sannidhi Donaire, Maria Sophia Valenzuela-Jorquera, Héctor Lamoza, Eduardo Arévalo, Tamara V. Retamales-Ortega, Rocío Sanhueza, Sergio Selman, Carolina S. Silva, Andrea X. Alarcon, Teresa A. Martínez, Matías F. Quiroga, Romina Zuñiga-Pacheco, Paula Zapata-Contreras, Daniela Yáñez, Cristian E. Quiñones, Luis A. Tobar-Calfucoy, Eduardo A. Monardes-Ramírez, Virginia A. Signore, Iskra A. Guajardo, Lissette G. Figueroa, Alvaro Oróstica, Karen Y. Muñoz, Christian A. Fuentes-Guajardo, Macarena Bocchieri, Pamela Cabrera, Camilo Echeverria, Cesar A. Cerpa, Leslie C. Donoso, Gerardo Gutiérrez-Richards, Scarlett Nova-Lamperti, Estefania Saez Hidalgo Institute for Molecular Medicine Finland (FIMM) Helsinki Institute of Life Science (HiLIFE) University of Helsinki Helsinki Finland Department of Human Genetics McGill University Montreal QC Canada Centre for Clinical Epidemiology Department of Medicine Lady Davis Institute Jewish General Hospital McGill University Montreal QC Canada Kyoto-McGill International Collaborative Program in Genomic Medicine Graduate School of Medicine Kyoto University Kyoto Japan Department of Genome Informatics Graduate School of Medicine the University of Tokyo Tokyo Japan Research Fellow Japan Society for the Promotion of Science Tokyo Japan Department of Psychiatry and Behavioral Sciences University of California San Francisco San Francisco CA United States Program in Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA United States Stanley Center for Psychiatric Research Broad Institute of Harvard and MIT Cambridge MA United States Analytic and Translational Genetics Unit Massachusetts General Hospital Boston MA United States Genomes for Life-GCAT Lab CORE Program Germans Trias i Pujol Research Institute (IGTP) Badalona Spain Grup de REcerca en Impacte de les Malalties Cròniques i les seves Trajectòries (GRIMTra) Barcelona Spain Sano Genetics Limited London United Kingdom Unidad de Biología Molecular y Medicina Genómica Instituto Nacional de Ciencias Médicas y Nutrición Salvador Zubirán Mexico City Mexico Genetics and Genomic Sciences Icahn School of Medicine at Mount Sinai New York City NY United States Broad Institute Cambridge MA United States Analytical and Translational Genetics Unit Massachusetts General Hospital Harvard Medical School Boston MA United States Department of Mathematics and Statistics University of Helsinki Helsinki Finland Department of Public Health University of Helsinki Helsinki Finland Institute of Human Genetics University of Bonn School of Medicine and University Hospital Bonn Bonn Germany MRC Integrat

Infections can lead to persistent symptoms and diseases such as shingles after varicella zoster or rheumatic fever after streptococcal infections. Similarly, severe acute respiratory syndrome coronavirus 2 (SARS‑CoV‑2) infection can result in long coronavirus disease (COVID), typically manifesting as fatigue, pulmonary symptoms and cognitive dysfunction. The biological mechanisms behind long COVID remain unclear. We performed a genome-wide association study for long COVID including up to 6,450 long COVID cases and 1,093,995 population controls from 24 studies across 16 countries. We discovered an association of FOXP4 with long COVID, independent of its previously identified association with severe COVID-19. The signal was replicated in 9,500 long COVID cases and 798,835 population controls. Given the transcription factor FOXP4’s role in lung physiology and pathology, our findings highlight the importance of lung function in the pathophysiology of long COVID. © The Author(s) 2025.

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Analysis of more than 400,000 women provides case-control evidence for BRCA1 and BRCA2 variant classification

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Nature Communications 2025年第1期16卷 1-18页

作者： Zanti, Maria O’Mahony, Denise G. Parsons, Michael T. Dorling, Leila Dennis, Joe Boddicker, Nicholas J. Chen, Wenan Hu, Chunling Naven, Marc Yiangou, Kristia Ahearn, Thomas U. Ambrosone, Christine B. Andrulis, Irene L. Antoniou, Antonis C. Auer, Paul L. Baynes, Caroline Bodelon, Clara Bogdanova, Natalia V. Bojesen, Stig E. Bolla, Manjeet K. Brantley, Kristen D. Camp, Nicola J. Campbell, Archie Castelao, Jose E. Cessna, Melissa H. Chang-Claude, Jenny Chen, Fei Chenevix-Trench, Georgia Kristensen, Vessela N. Conroy, Don M. Czene, Kamila De Nicolo, Arcangela Domchek, Susan M. Dörk, Thilo Dunning, Alison M. Eliassen, A. Heather Evans, D. Gareth Fasching, Peter A. Figueroa, Jonine D. Flyger, Henrik Gago-Dominguez, Manuela García-Closas, Montserrat Glendon, Gord González-Neira, Anna Grassmann, Felix Hadjisavvas, Andreas Haiman, Christopher A. Hamann, Ute Hart, Steven N. Hartman, Mikael B. A. Ho, Weang-Kee Hodge, James M. Hoppe, Reiner Howell, Sacha J. Jakubowska, Anna Khusnutdinova, Elza K. Ko, Yon-Dschun Kraft, Peter Kristensen, Vessela N. Lacey, James V. Li, Jingmei Lim, Geok Hoon Lindström, Sara Lophatananon, Artitaya Luccarini, Craig Mannermaa, Arto Martinez, Maria Elena Mavroudis, Dimitrios Milne, Roger L. Muir, Kenneth Nathanson, Katherine L. Nuñez-Torres, Rocio Obi, Nadia Olson, Janet E. Palmer, Julie R. Panayiotidis, Mihalis I. Patel, Alpa V. Pharoah, Paul D. P. Polley, Eric C. Rashid, Muhammad U. Ruddy, Kathryn J. Saloustros, Emmanouil Sawyer, Elinor J. Schmidt, Marjanka K. Southey, Melissa C. Tan, Veronique Kiak-Mien Teo, Soo Hwang Teras, Lauren R. Torres, Diana Trentham-Dietz, Amy Truong, Thérèse Vachon, Celine M. Wang, Qin Weitzel, Jeffrey N. Yadav, Siddhartha Yao, Song Zirpoli, Gary R. Cline, Melissa S. Devilee, Peter Tavtigian, Sean V. Goldgar, David E. Couch, Fergus J. Easton, Douglas F. Spurdle, Amanda B. Michailidou, Kyriaki Biostatistics Unit The Cyprus Institute of Neurology & Genetics Nicosia Cyprus Department of Medical Genetics Oslo University Hospital Oslo Norway Population Health Program QIMR Berghofer Medical Research Institute Brisbane QLD Australia Centre for Cancer Genetic Epidemiology Department of Public Health and Primary Care University of Cambridge Cambridge United Kingdom Department of Quantitative Health Sciences Division of Computational Biology Mayo Clinic Rochester MN United States Department of Laboratory Medicine and Pathology Mayo Clinic Rochester MN United States Division of Cancer Epidemiology and Genetics National Cancer Institute National Institutes of Health Department of Health and Human Services Bethesda MD United States Department of Cancer Prevention and Control Roswell Park Comprehensive Cancer Institute Buffalo NY United States Fred A. Litwin Center for Cancer Genetics Lunenfeld-Tanenbaum Research Institute of Mount Sinai Hospital Toronto Ontario Canada Department of Molecular Genetics University of Toronto Toronto Ontario Canada Division of Biostatistics Data Science Institute and Cancer Center Medical College of Wisconsin Milwaukee WI United States Centre for Cancer Genetic Epidemiology Department of Oncology University of Cambridge Cambridge United Kingdom Department of Population Science American Cancer Society Atlanta GA United States Radiation Oncology Research Unit Hannover Medical School Hannover Germany Copenhagen General Population Study Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Department of Clinical Biochemistry Herlev and Gentofte Hospital Copenhagen University Hospital Herlev Denmark Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Department of Medical Oncology Dana-Farber Cancer Institute Boston MA United States Department of Internal Medicine and Huntsman Cancer Institute University of Utah Salt Lake City UT United States Centre for Genomic a

Clinical genetic testing identifies variants causal for hereditary cancer, information that is used for risk assessment and clinical management. Unfortunately, some variants identified are of uncertain clinical significance (VUS), complicating patient management. Case-control data is one evidence type used to classify VUS. As an initiative of the Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) Analytical Working Group we analyze germline sequencing data of BRCA1 and BRCA2 from 96,691 female breast cancer cases and 302,116 controls from three studies: the BRIDGES study of the Breast Cancer Association Consortium, the Cancer Risk Estimates Related to Susceptibility consortium, and the UK Biobank. We observe 11,207 BRCA1 and BRCA2 variants, with 6909 being coding, covering 23.4% of BRCA1 and BRCA2 VUS in ClinVar and 19.2% of ClinVar curated (likely) benign or pathogenic variants. Case-control likelihood ratio (ccLR) evidence is highly consistent with ClinVar assertions for (likely) benign or pathogenic variants;exhibiting 99.1% sensitivity and 95.3% specificity for BRCA1 and 93.3% sensitivity and 86.6% specificity for BRCA2. This approach provides case-control evidence for 787 unclassified variants;these include 579 with strong or moderate benign evidence and 10 with strong pathogenic evidence for which ccLR evidence is sufficient to alter clinical classification. © The Author(s) 2025.

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Dense sampling of bird diversity increases power of comparative genomics (vol 587, pg 252, 2020)

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NATURE 2021年第7856期592卷 E24-E24页

作者： Feng, Shaohong Stiller, Josefin Deng, Yuan Armstrong, Joel Fang, Qi Reeve, Andrew Hart Xie, Duo Chen, Guangji Guo, Chunxue Faircloth, Brant C. Petersen, Bent Wang, Zongji Zhou, Qi Diekhans, Mark Chen, Wanjun Andreu-Sanchez, Sergio Margaryan, Ashot Howard, Jason Travis Parent, Carole Pacheco, George Sinding, Mikkel-Holger S. Puetz, Lara Cavill, Emily Ribeiro, Angela M. Eckhart, Leopold Fjeldsa, Jon Hosner, Peter A. Brumfield, Robb T. Christidis, Les Bertelsen, Mads F. Sicheritz-Ponten, Thomas Tietze, Dieter Thomas Robertson, Bruce C. Song, Gang Borgia, Gerald Claramunt, Santiago Lovette, Irby J. Cowen, Saul J. Njoroge, Peter Dumbacher, John Philip Ryder, Oliver A. Fuchs, Jerome Bunce, Michael Burt, David W. Cracraft, Joel Meng, Guanliang Hackett, Shannon J. Ryan, Peter G. Jonsson, Knud Andreas Jamieson, Ian G. da Fonseca, Rute R. Braun, Edward L. Houde, Peter Mirarab, Siavash Suh, Alexander Hansson, Bengt Ponnikas, Suvi Sigeman, Hanna Stervander, Martin Frandsen, Paul B. van der Zwan, Henriette van der Sluis, Rencia Visser, Carina Balakrishnan, Christopher N. Clark, Andrew G. Fitzpatrick, John W. Bowman, Reed Chen, Nancy Cloutier, Alison Sackton, Timothy B. Edwards, Scott V. Foote, Dustin J. Shakya, Subir B. Sheldon, Frederick H. Vignal, Alain Soares, Andre E. R. Shapiro, Beth Gonzalez-Solis, Jacob Ferrer-Obiol, Joan Rozas, Julio Riutort, Marta Tigano, Anna Friesen, Vicki Dalen, Love Urrutia, Araxi O. Szekely, Tamas Liu, Yang Campana, Michael G. Corvelo, Andre Fleischer, Robert C. Rutherford, Kim M. Gemmell, Neil J. Dussex, Nicolas Mouritsen, Henrik Thiele, Nadine Delmore, Kira Liedvogel, Miriam Franke, Andre Hoeppner, Marc P. Krone, Oliver Fudickar, Adam M. Mila, Borja Ketterson, Ellen D. Fidler, Andrew Eric Friis, Guillermo Parody-Merino, Angela M. Battley, Phil F. Cox, Murray P. Lima, Nicholas Costa Barroso Prosdocimi, Francisco Parchman, Thomas Lee Schlinger, Barney A. Loiselle, Bette A. Blake, John G. Lim, Haw Chuan Day, Lainy B. Fuxjager, Matthew J. Baldwin, Maude W. Braun, Michael J. Wirthlin, Morgan Dikow, China National GeneBank BGI-Shenzhen Shenzhen China State Key Laboratory of Genetic Resources and Evolution Kunming Institute of Zoology Chinese Academy of Sciences Kunming China BGI-Shenzhen Shenzhen China Villum Centre for Biodiversity Genomics Section for Ecology and Evolution Department of Biology University of Copenhagen Copenhagen Denmark BGI Education Center University of Chinese Academy of Sciences Shenzhen China MOE Laboratory of Biosystems Homeostasis and Protection Life Sciences Institute Zhejiang University Hangzhou China Department of Neuroscience and Developmental Biology University of Vienna Vienna Austria Center for Excellence in Animal Evolution and Genetics Chinese Academy of Sciences Kunming China James D. Watson Institute of Genome Sciences Hangzhou China UC Santa Cruz Genomics Institute UC Santa Cruz Santa Cruz CA USA Natural History Museum of Denmark University of Copenhagen Copenhagen Denmark Center for Macroecology Evolution and Climate GLOBE Institute University of Copenhagen Copenhagen Denmark Department of Biological Sciences Louisiana State University Baton Rouge LA USA Museum of Natural Science Louisiana State University Baton Rouge LA USA Centre of Excellence for Omics-Driven Computational Biodiscovery (COMBio) Faculty of Applied Sciences AIMST University Kedah Malaysia Section for Evolutionary Genomics The GLOBE Institute Faculty of Health and Medical Sciences University of Copenhagen Copenhagen Denmark Institute of Molecular Biology National Academy of Sciences Yerevan Armenia University Museum Norwegian University of Science and Technology Trondheim Norway Center for Reproductive Medicine The 2nd Affiliated Hospital School of Medicine Zhejiang University Hangzhou China Novogene Durham NC USA Duke University Medical Center Durham NC USA The Rockefeller University New York NY USA Howard Hughes Medical Institute Chevy Chase MD USA Department of Dermatology Medical University of Vienna Vienna Austria

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Genetic drivers of heterogeneity in type 2 diabetes pathophysiology

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Nature 2024年第8003期627卷 347-357页

作者： Ken Suzuki Konstantinos Hatzikotoulas Lorraine Southam Henry J Taylor Xianyong Yin Kim M Lorenz Ravi Mandla Alicia Huerta-Chagoya Giorgio E M Melloni Stavroula Kanoni Nigel W Rayner Ozvan Bocher Ana Luiza Arruda Kyuto Sonehara Shinichi Namba Simon S K Lee Michael H Preuss Lauren E Petty Philip Schroeder Brett Vanderwerff Mart Kals Fiona Bragg Kuang Lin Xiuqing Guo Weihua Zhang Jie Yao Young Jin Kim Mariaelisa Graff Fumihiko Takeuchi Jana Nano Amel Lamri Masahiro Nakatochi Sanghoon Moon Robert A Scott James P Cook Jung-Jin Lee Ian Pan Daniel Taliun Esteban J Parra Jin-Fang Chai Lawrence F Bielak Yasuharu Tabara Yang Hai Gudmar Thorleifsson Niels Grarup Tamar Sofer Matthias Wuttke Chloé Sarnowski Christian Gieger Darryl Nousome Stella Trompet Soo-Heon Kwak Jirong Long Meng Sun Lin Tong Wei-Min Chen Suraj S Nongmaithem Raymond Noordam Victor J Y Lim Claudia H T Tam Yoonjung Yoonie Joo Chien-Hsiun Chen Laura M Raffield Bram Peter Prins Aude Nicolas Lisa R Yanek Guanjie Chen Jennifer A Brody Edmond Kabagambe Ping An Anny H Xiang Hyeok Sun Choi Brian E Cade Jingyi Tan K Alaine Broadaway Alice Williamson Zoha Kamali Jinrui Cui Manonanthini Thangam Linda S Adair Adebowale Adeyemo Carlos A Aguilar-Salinas Tarunveer S Ahluwalia Sonia S Anand Alain Bertoni Jette Bork-Jensen Ivan Brandslund Thomas A Buchanan Charles F Burant Adam S Butterworth Mickaël Canouil Juliana C N Chan Li-Ching Chang Miao-Li Chee Ji Chen Shyh-Huei Chen Yuan-Tsong Chen Zhengming Chen Lee-Ming Chuang Mary Cushman John Danesh Swapan K Das H Janaka de Silva George Dedoussis Latchezar Dimitrov Ayo P Doumatey Shufa Du Qing Duan Kai-Uwe Eckardt Leslie S Emery Daniel S Evans Michele K Evans Krista Fischer James S Floyd Ian Ford Oscar H Franco Timothy M Frayling Barry I Freedman Pauline Genter Hertzel C Gerstein Vilmantas Giedraitis Clicerio González-Villalpando Maria Elena González-Villalpando Penny Gordon-Larsen Myron Gross Lindsay A Guare Sophie Hackinger Liisa Hakaste Sohee Han Andrew T Hattersley Christian Herder Momoko Horikoshi Annie-Green Howard Willa Centre for Genetics and Genomics Versus Arthritis Centre for Musculoskeletal Research Division of Musculoskeletal and Dermatological Sciences University of Manchester Manchester UK. Department of Diabetes and Metabolic Diseases Graduate School of Medicine University of Tokyo Tokyo Japan. Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. konstantinos.hatzikotoulas@helmholtz-munich.de. Institute of Translational Genomics Helmholtz Zentrum München German Research Center for Environmental Health Neuherberg Germany. Center for Precision Health Research National Human Genome Research Institute National Institutes of Health Bethesda MD USA. British Heart Foundation Cardiovascular Epidemiology Unit Department of Public Health and Primary Care University of Cambridge Cambridge UK. Heart and Lung Research Institute University of Cambridge Cambridge UK. Department of Epidemiology School of Public Health Nanjing Medical University Nanjing China. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor MI USA. Corporal Michael J. Crescenz VA Medical Center Philadelphia PA USA. Department of Systems Pharmacology and Translational Therapeutics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Department of Genetics University of Pennsylvania Perelman School of Medicine Philadelphia PA USA. Programs in Metabolism and Medical and Population Genetics Broad Institute of Harvard and MIT Cambridge MA USA. Diabetes Unit and Center for Genomic Medicine Massachusetts General Hospital Boston MA USA. TIMI Study Group Division of Cardiovascular Medicine Brigham and Women's Hospital Harvard Medical School Boston MA USA. William Harvey Research Institute Barts and the London School of Medicine and Dentistry Queen Mary University of London L

Type 2 diabetes (T2D) is a heterogeneous disease that develops through diverse pathophysiological processes and molecular mechanisms that are often specific to cell type. Here, to characterize the genetic contribution to these processes across ancestry groups, we aggregate genome-wide association study data from 2,535,601 individuals (39.7% not of European ancestry), including 428,452 cases of T2D. We identify 1,289 independent association signals at genome-wide significance (P < 5 × 10) that map to 611 loci, of which 145 loci are, to our knowledge, previously unreported. We define eight non-overlapping clusters of T2D signals that are characterized by distinct profiles of cardiometabolic trait associations. These clusters are differentially enriched for cell-type-specific regions of open chromatin, including pancreatic islets, adipocytes, endothelial cells and enteroendocrine cells. We build cluster-specific partitioned polygenic scores in a further 279,552 individuals of diverse ancestry, including 30,288 cases of T2D, and test their association with T2D-related vascular outcomes. Cluster-specific partitioned polygenic scores are associated with coronary artery disease, peripheral artery disease and end-stage diabetic nephropathy across ancestry groups, highlighting the importance of obesity-related processes in the development of vascular outcomes. Our findings show the value of integrating multi-ancestry genome-wide association study data with single-cell epigenomics to disentangle the aetiological heterogeneity that drives the development and progression of T2D. This might offer a route to optimize global access to genetically informed diabetes care.

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LifeTime and improving European healthcare through cell-based interceptive medicine (vol 587, pg 377, 2020)

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NATURE 2021年第7852期592卷 E8-E8页

作者： Rajewsky, Nikolaus Almouzni, Genevieve Gorski, Stanislaw A. Aerts, Stein Amit, Ido Bertero, Michela G. Bock, Christoph Bredenoord, Annelien L. Cavalli, Giacomo Chiocca, Susanna Clevers, Hans De Strooper, Bart Eggert, Angelika Ellenberg, Jan Fernandez, Xose M. Figlerowicz, Marek Gasser, Susan M. Hubner, Norbert Kjems, Jorgen Knoblich, Jurgen A. Krabbe, Grietje Lichter, Peter Linnarsson, Sten Marine, Jean-Christophe Marioni, John C. Marti-Renom, Marc A. Netea, Mihai G. Nickel, Dorthe Nollmann, Marcelo Novak, Halina R. Parkinson, Helen Piccolo, Stefano Pinheiro, Ines Pombo, Ana Popp, Christian Reik, Wolf Roman-Roman, Sergio Rosenstiel, Philip Schultze, Joachim L. Stegle, Oliver Tanay, Amos Testa, Giuseppe Thanos, Dimitris Theis, Fabian J. Torres-Padilla, Maria-Elena Valencia, Alfonso Vallot, Celine van Oudenaarden, Alexander Vidal, Marie Voet, Thierry Berlin Institute for Medical Systems Biology Max Delbrück Center for Molecular Medicine in the Helmholtz Association Berlin Germany Charité-Universitätsmedizin Berlin Germany Berlin Institute of Health (BIH) Berlin Germany German Center for Cardiovascular Research (DZHK) Partner Site Berlin Berlin Germany Institute for Biology Humboldt University of Berlin Berlin Germany Cardiovascular and Metabolic Sciences Max Delbrück Center for Molecular Medicine in the Helmholtz Association (MDC) Berlin Germany Department of Pediatric Oncology/Hematology Charité-Universitätsmedizin Berlin Berlin Germany Institut Curie CNRS PSL Research University Sorbonne Université Nuclear Dynamics Unit Equipe Labellisée Ligue contre le cancer Paris France VIB Center for Brain and Disease Research Leuven Belgium Department of Human Genetics KU Leuven Leuven Belgium Department of Neurosciences KU Leuven Leuven Belgium UK Dementia Research Institute at UCL University College London London UK Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK Department of Immunology Weizmann Institute of Science Rehovot Israel Centre for Genomic Regulation (CRG) Barcelona Institute of Science and Technology Barcelona Spain CNAG-CRG Centre for Genomic Regulation Barcelona Institute of Science and Technology Barcelona Spain Universitat Pompeu Fabra Barcelona Spain ICREA Barcelona Spain CeMM Research Center for Molecular Medicine of the Austrian Academy of Sciences Vienna Austria Department of Laboratory Medicine Medical University of Vienna Vienna Austria Ludwig Boltzmann Institute for Rare and Undiagnosed Diseases Vienna Austria Department of Medical Humanities Julius Center for Health Sciences and Primary Care University Medical Center Utrecht Utrecht The Netherlands Institute of Human Genetics UMR 9002 CNRS and University of Montpellier Montpellier France Department of Experimental Oncology IEO European Institute of Oncology IRCCS Milan Italy Department of Oncology and Hemato

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Concurrent starbursts in molecular gas disks within a pair of colliding galaxies at z = 1.52

arXiv

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arXiv 2018年

作者： Silverman, J.D. Daddi, E. Rujopakarn, W. Renzini, A. Mancini, C. Bournaud, F. Puglisi, A. Rodighiero, G. Liu, D. Sargent, M. Arimoto, N. Béthermin, M. Fensch, J. Hayward, C.C. Kartaltepe, J. Kashino, D. Koekemoer, A. Magdis, G. McCracken, H.J. Nagao, T. Sheth, K. Smolčić, V. Valentino, F. Kavli Institute for the Physics and Mathematics of the Universe University of Tokyo Kashiwa277-8583 Japan Laboratoire AIM CEA/DSM-CNRS-Universite Paris Diderot Irfu/Service d'Astrophysique CEA Saclay Department of Physics Faculty of Science Chulalongkorn University 254 Phayathai Road Pathumwan Bangkok10330 Thailand Don Kaeo Mae Rim Chiang Mai50180 Thailand Kavli Institute for the Physics and Mathematics of the Universe Todai Institutes for Advanced Study University of Tokyo Kashiwa277-8583 Japan Instituto Nazionale de Astrofisica Osservatorio Astronomico di Padova v.co dell'Osservatorio 5 PadovaI-35122 Italy Dipartimento di Fisica e Astronomia Universita di Padova vicolo Osservatorio 3 Padova35122 Italy Astronomy Centre Department of Physics and Astronomy University of Sussex BrightonBN1 9QH United Kingdom Astronomy Program Department of Physics and Astronomy Seoul National University 599 Gwanak-ro Gwanak-gu Seoul151-742 Korea Republic of Subaru Telescope 650 North A'ohoku Place Hilo Hawaii96720 United States European Southern Observatory Karl-Schwarzschild-Str. 2 Garching85748 Germany European Southern Observatory Karl-Schwarzschild-Str. 2 Garching bei München85748 Germany Center for Computational Astrophysics Flatiron Institute 162 Fifth Avenue New YorkNY10010 United States School of Physics and Astronomy Rochester Institute of Technology 84 Lomb Memorial Drive RochesterNY14623 United States Institute of Astronomy ETH Zürich Wolfgang-Pauli-Strasse 27 ZürichCH-8093 Switzerland Space Telescope Science Institute 3700 San Martin Drive BaltimoreMD21218 United States Cosmic DAWN Centre Niels Bohr Institute University of Copenhagen Juliane Mariesvej 30 Copenhagen2100 Denmark Institut d'Astrophysique de Paris CNRS UMR 7095 and UPMC 98bis boulevard Arago ParisF-75014 France Graduate School of Science and Engineering Ehime University 2-5 Bunkyo-cho Matsuyama790-8577 Japan NASA Headquaters 300 E. St SW WashingtonDC2054

We report on the discovery of a merger-driven starburst at z = 1:52, PACS-787, based on high signal-to-noise ALMA observations. CO(5-4) and continuum emission (850μm) at a spatial resolution of 0.3" reveal two compact (r1/2 ∼ 1 kpc) and interacting molecular gas disks at a separation of 8.6 kpc thus indicative of an early stage in a merger. With a SFR of 991 Mo yr-1, this starburst event should occur closer to final coalescence, as usually seen in hydrodynamical simulations. From the CO size, inclination, and velocity profile for both disks, the dynamical mass is calculated through a novel method that incorporates a calibration using simulations of galaxy mergers. Based on the dynamical mass, we measure (1) the molecular gas mass, independent from the CO luminosity, (2) the ratio of the total gas mass and the CO(1 - 0) luminosity (αCO ≡ Mgas/L'CO1-0), and (3) the gas-to-dust ratio, with the latter two being lower than typically assumed. We find that the high star formation, triggered in both galaxies, is caused by a set of optimal conditions: a high gas mass/fraction, a short depletion time (τdepl = 85 and 67 Myrs) to convert gas into stars, and the interaction of likely counter-rotating molecular disks that may accelerate the loss of angular momentum. The state of interaction is further established by the detection of di_use CO and continuum emission, tidal debris that bridges the two nuclei and is associated with stellar emission seen by HST/WFC3. This observation demonstrates the power of ALMA to study the dynamics of galaxy mergers at high redshift. Copyright © 2018, The Authors. All rights reserved.

关键词： Galaxies

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Global burden of 369 diseases and injuries in 204 countries and territories, 1990–2019: a systematic analysis for the Global Burden of Disease study 2019

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The Lancet 2020年第10258期396卷 1204-1222页

作者： Abbafati, Cristiana Abbas, Kaja M. Abbasi, Mohammad Abbasifard, Mitra Abbasi-Kangevari, Mohsen Abbastabar, Hedayat Abd-Allah, Foad Abdelalim, Ahmed Abdollahi, Mohammad Abdollahpour, Ibrahim Abedi, Aidin Abedi, Parisa Abegaz, Kedir Hussein Abolhassani, Hassan Abosetugn, Akine Eshete Aboyans, Victor Abrams, Elissa M. Abreu, Lucas Guimarães Abrigo, Michael R.M. Abu Haimed, Abdulaziz Khalid Abualhasan, Ahmed Abu-Gharbieh, Eman Abu-Raddad, Laith Jamal Abushouk, Abdelrahman I. Acebedo, Alyssa Ackerman, Ilana N. Adabi, Maryam Adair, Tim Adamu, Abdu A. Adebayo, Oladimeji M. Adedeji, Isaac Akinkunmi Adekanmbi, Victor Adelson, Jaimie D. Adeoye, Abiodun Moshood Adetokunboh, Olatunji O. Adham, Davoud Advani, Shailesh M. Afarideh, Mohsen Afshari, Mahdi Afshin, Ashkan Agardh, Emilie E. Agarwal, Gina Agasthi, Pradyumna Agesa, Kareha M. Aghaali, Mohammad Aghamir, Seyed Mohammad Kazem Agrawal, Anurag Ahmad, Tauseef Ahmadi, Alireza Ahmadi, Keivan Ahmadi, Mehdi Ahmadieh, Hamid Ahmadpour, Ehsan Ahmed, Muktar Beshir Aji, Budi Akalu, Temesgen Yihunie Akinyemi, Rufus Olusola Akinyemiju, Tomi Akombi, Blessing Akunna, Chisom Joyqueenet Alahdab, Fares Al-Aly, Ziyad Alam, Khurshid Alam, Noore Alam, Samiah Alam, Tahiya Alanezi, Fahad Mashhour Alanzi, Turki M. Albertson, Samuel B. Alcalde-Rabanal, Jacqueline Elizabeth Alema, Niguse Meles Alemu, Biresaw Wassihun Alemu, Yihun Mulugeta Alhabib, Khalid F. Alhassan, Robert Kaba Ali, Muhammad Ali, Saqib Alicandro, Gianfranco Alijanzadeh, Mehran Alinia, Cyrus Alipour, Vahid Alizade, Hesam Aljunid, Syed Mohamed Alla, François Allebeck, Peter Almadi, Majid Abdulrahman Hamad Almasi, Ali Almasi-Hashiani, Amir Almasri, Nihad A. Al-Mekhlafi, Hesham M. Almulhim, Abdulaziz M. Alonso, Jordi Al-Raddadi, Rajaa M. Altirkawi, Khalid A. Alumran, Arwa Khalid Alvis-Guzman, Nelson Alvis-Zakzuk, Nelson J. Amare, Azmeraw T. Amare, Bekalu Amini, Saeed Amini-Rarani, Mostafa Aminorroaya, Arya Amiri, Fatemeh Amit, Arianna Maever L. Amugsi, Dickson A. Amul, Gianna Gayle Herrera Anbesu, Etsay Woldu Ancuceanu, Robert Anderl Department of Juridical and Economic Studies La Sapienza University Rome Italy Department of Infectious Disease Epidemiology London School of Hygiene and Tropical Medicine London United Kingdom Social Determinants of Health Research Center Tehran Iran Department of Neurology Cairo University Cairo Egypt School of Pharmacy Tehran Iran The Institute of Pharmaceutical Sciences (TIPS) Tehran Iran Neuroscience Research Center Isfahan University of Medical Sciences Isfahan Iran Biostatistics Department Near East University Nicosia Cyprus Biostatistics and Health Informatics Madda Walabu University Bale Robe Ethiopia Research Center for Immunodeficiencies Tehran Iran Karolinska University Hospital Huddinge Sweden Department of Cardiology Dupuytren University Hospital Limoges France University of Limoges Limoges France Department of Pediatric Dentistry Federal University of Minas Gerais Belo Horizonte Brazil Department of Research Philippine Institute for Development Studies Quezon City Philippines Department of Healthcare Policy and Research Weill Cornell Medical College in Qatar Doha Qatar Harvard Medical School Boston MA United States Department of Medicine Ain Shams University Cairo Egypt Hamadan University of Medical Sciences Hamadan Iran School of Medicine Cardiff University Cardiff United Kingdom School of Laboratory Medicine and Science University College Hospital Ibadan Ibadan Nigeria Institute of Cardiovascular Diseases University of Ibadan Ibadan Nigeria Centre of Excellence for Epidemiological Modelling and Analysis Stellenbosch University Cape Town South Africa Department of Global Health Stellenbosch University Cape Town South Africa School of Health Ardabil University of Medical Science Ardabil Iran Social Behavioral Research Branch National Institute of Health Bethesda MD United States Department of Oncology Georgetown University Washington DC DC United States Department of Health Metrics Sciences School of Medicine Seattle WA

Background: In an era of shifting global agendas and expanded emphasis on non-communicable diseases and injuries along with communicable diseases, sound evidence on trends by cause at the national level is essential. The Global Burden of Diseases, Injuries, and Risk Factors study (GBD) provides a systematic scientific assessment of published, publicly available, and contributed data on incidence, prevalence, and mortality for a mutually exclusive and collectively exhaustive list of diseases and injuries. Methods: GBD estimates incidence, prevalence, mortality, years of life lost (YLLs), years lived with disability (YLDs), and disability-adjusted life-years (DALYs) due to 369 diseases and injuries, for two sexes, and for 204 countries and territories. Input data were extracted from censuses, household surveys, civil registration and vital statistics, disease registries, health service use, air pollution monitors, satellite imaging, disease notifications, and other sources. Cause-specific death rates and cause fractions were calculated using the Cause of Death Ensemble model and spatiotemporal Gaussian process regression. Cause-specific deaths were adjusted to match the total all-cause deaths calculated as part of the GBD population, fertility, and mortality estimates. Deaths were multiplied by standard life expectancy at each age to calculate YLLs. A Bayesian meta-regression modelling tool, DisMod-MR 2.1, was used to ensure consistency between incidence, prevalence, remission, excess mortality, and cause-specific mortality for most causes. Prevalence estimates were multiplied by disability weights for mutually exclusive sequelae of diseases and injuries to calculate YLDs. We considered results in the context of the Socio-demographic Index (SDI), a composite indicator of income per capita, years of schooling, and fertility rate in females younger than 25 years. Uncertainty intervals (UIs) were generated for every metric using the 25th and 975th ordered 1000 draw value

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