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2016 Joint International Conference on Biological Ontology and BioCreative - Food, Nutrition, Health and Environment for the 9 Billion, ICBO-BioCreative 2016

作者： Durupinar-Babur, Funda Siper, Metin Can Dogrusoz, Ugur Bahceci, Istemi Babur, Ozgun Demir, Emek Oregon Health and Science University Computational Biology Program PortlandOR United States Bilkent University Dept. of Comp Engineering Ankara Turkey

We present a web based visual biocuration workspace, focusing on curating detailed mechanistic pathways. It was designed as a flexible platform where multiple humans, NLP and AI agents can collaborate in real-time on a common model using an event driven API. We will use this platform for exploring disruptive technologies that can scale up biocuration such as NLP, human-computer collaboration, crowd-sourcing, alternative publishing and gamification. As a first step, we are designing a pilot to include an author-curation step into the scientific publishing, where the authors of an article create formal pathway fragments representing their discovery- heavily assisted by computer agents. We envision that this "microcuration" use-case will create an excellent opportunity to integrate multiple NLP approaches and semi-automated curation. © 2016, CEUR-WS. All rights reserved.

关键词： Natural language processing systems

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Author Correction: Genomic and transcriptomic correlates of immunotherapy response within the tumor microenvironment of leptomeningeal metastases

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Nature communications 2021年第1期12卷 7007页

作者： Sanjay M Prakadan Christopher A Alvarez-Breckenridge Samuel C Markson Albert E Kim Robert H Klein Naema Nayyar Andrew W Navia Benjamin M Kuter Kellie E Kolb Ivanna Bihun Joana L Mora Mia Solana Bertalan Brian Shaw Michael White Alexander Kaplan Jackson H Stocking Marc H Wadsworth Eudocia Q Lee Ugonma Chukwueke Nancy Wang Megha Subramanian Denisse Rotem Daniel P Cahill Viktor A Adalsteinsson Jeffrey W Miller Ryan J Sullivan Scott L Carter Priscilla K Brastianos Alex K Shalek Department of Chemistry Massachusetts Institute of Technology Cambridge MA USA. Institute for Medical Engineering & Science Massachusetts Institute of Technology Cambridge MA USA. Broad Institute Harvard University & Massachusetts Institute of Technology Cambridge MA USA. Koch Institute for Integrative Cancer Research Massachusetts Institute of Technology Cambridge MA USA. Ragon Institute Harvard University Massachusetts Institute of Technology & Massachusetts General Hospital Cambridge MA USA. Department of Neurosurgery Harvard Medical School & Massachusetts General Hospital Boston MA USA. Division of Computational Biology Dana-Farber Cancer Institute Boston MA USA. Department of Medicine Harvard Medical School & Massachusetts General Hospital Boston MA USA. Massachusetts General Hospital Cancer Center Boston MA USA. Division of Neuro-Oncology Dana-Farber Cancer Institute Boston MA USA. Department of Biostatistics Harvard TH Chan School of Public Health Boston MA USA. Broad Institute Harvard University & Massachusetts Institute of Technology Cambridge MA USA. carter.scott@jimmy.harvard.edu. Division of Computational Biology Dana-Farber Cancer Institute Boston MA USA. carter.scott@jimmy.harvard.edu. Department of Biostatistics Harvard TH Chan School of Public Health Boston MA USA. carter.scott@jimmy.harvard.edu. Broad Institute Harvard University & Massachusetts Institute of Technology Cambridge MA USA. pbrastianos@mgh.harvard.edu. Department of Medicine Harvard Medical School & Massachusetts General Hospital Boston MA USA. pbrastianos@mgh.harvard.edu. Massachusetts General Hospital Cancer Center Boston MA USA. pbrastianos@mgh.harvard.edu. Department of Chemistry Massachusetts Institute of Technology Cambridge MA USA. shalek@mit.edu. Institute for Medical Engineering & Science Massachusetts Institute of Technology Cambridge MA USA. shalek@mit.edu. Broad Institute Harvard University & Massachusetts Institute of Technology Cambridge MA

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Molecular landscape of sex- and modality-specific exercise adaptation in human skeletal muscle through large-scale multi-omics integration

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Cell Reports 2025年第6期44卷 115750页

作者： Macsue Jacques Shanie Landen Adam P. Sharples Andrew Garnham Ralf Schittenhelm Joel Steele Aino Heikkinen Elina Sillanpää Miina Ollikainen James Broatch Navabeh Zarekookandeh Ola Hanson Ola Ekström Olof Asplund Séverine Lamon Sarah E. Alexander Cassandra Smith Carlie Bauer Mary N. Woessner Itamar Levinger Andrew E. Teschendorff Linn Gillberg Ida Blom Jørn Wulff Helge Nicholas R. Harvey Larisa M. Haupt Lyn R. Griffiths Atul S. Deshmukh Kirsi H. Pietiläinen Päivi Piirilä Robert A.E. Seaborne Marie Klevjer Anja Bye Ulrik Wisløff Bernadette Jones-Freeman Nir Eynon Australian Regenerative Medicine Institute Monash University Clayton VIC Australia Institute for Health and Sport (iHeS) Victoria University Footscray VIC Australia Centre for Endocrinology and Metabolism Hudson Institute of Medical Research Melbourne VIC Australia Institute of Physical Performance Norwegian School of Sport Sciences Oslo Norway Monash Proteomics & Metabolomics Platform Monash Biomedicine Discovery Institute Monash University Melbourne VIC Australia Institute for Molecular Medicine Finland (FIMM) Helsinki University Helsinki Finland Faculty of Sport and Health Sciences University of Jyväskylä Jyväskylä Finland Wellbeing Services County of Central Finland Jyväskylä Finland Minerva Foundation Institute for Medical Research Helsinki Finland Department of Clinical Sciences Translational Muscle Research Unit Lund University Diabetes Center Lund University Lund Sweden Institute for Physical Activity and Nutrition (IPAN) School of Exercise and Nutrition Sciences Deakin University 221 Burwood Highway Burwood VIC 3125 Australia Cardiometabolic Health and Exercise Physiology Laboratory Baker Heart and Diabetes Institute 75 Commercial Road Melbourne VIC 3004 Australia Nutrition & Health Innovation Research Institute Edith Cowan University Joondalup WA Australia Medical School The University of Western Australia Perth WA Australia Australian Institute for Musculoskeletal Science (AIMSS) Victoria University Melbourne VIC Australia CAS Key Lab of Computational Biology Shanghai Institute of Nutrition and Health Shanghai China Department of Biomedical Sciences University of Copenhagen Copenhagen Denmark Faculty of Health Sciences and Medicine Bond University Gold Coast QLD Australia Genomics Research Centre Centre for Genomics and Personalised Health School of Biomedical Sciences Queensland University of Technology Brisbane QLD Australia ARC Training Centre for Cell and Tissue Engineering Technologies Queensland University of Technology (Q

We investigated the molecular mechanisms of exercise adaptations in human muscle by integrating genome, methylome, transcriptome, and proteome data from over 1,000 participants (2,340 muscle samples). We identified distinctive signatures associated with maximal oxygen consumption (VO2max), and multi-omics integration uncovered five key genes as robust exercise markers across layers, with transcription factors functioning as activators, synergizing with DNA methylation to regulate gene expression. Minimal sex differences were observed, while modality-specific analysis highlighted distinct pathways for aerobic and resistance exercise, contrasting with muscle disuse patterns. Finally, we created a webtool, OMAx, featuring our individual omics and integration analysis. These findings provide a comprehensive multi-omics framework for understanding exercise-induced molecular adaptations, offering insights into muscle health, cardiorespiratory fitness, and their roles in aging and disease prevention.

关键词： skeletal muscle Multi Omics epigenetics DNA methylation exercise VO2 max gene expression transcriptomic proteomic

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Author Correction: Pan-cancer analysis of whole genomes identifies driver rearrangements promoted by LINE-1 retrotransposition

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Nature genetics 2023年第6期55卷 1080页

作者： Bernardo Rodriguez-Martin Eva G Alvarez Adrian Baez-Ortega Jorge Zamora Fran Supek Jonas Demeulemeester Martin Santamarina Young Seok Ju Javier Temes Daniel Garcia-Souto Harald Detering Yilong Li Jorge Rodriguez-Castro Ana Dueso-Barroso Alicia L Bruzos Stefan C Dentro Miguel G Blanco Gianmarco Contino Daniel Ardeljan Marta Tojo Nicola D Roberts Sonia Zumalave Paul A Edwards Joachim Weischenfeldt Montserrat Puiggròs Zechen Chong Ken Chen Eunjung Alice Lee Jeremiah A Wala Keiran M Raine Adam Butler Sebastian M Waszak Fabio C P Navarro Steven E Schumacher Jean Monlong Francesco Maura Niccolo Bolli Guillaume Bourque Mark Gerstein Peter J Park David C Wedge Rameen Beroukhim David Torrents Jan O Korbel Iñigo Martincorena Rebecca C Fitzgerald Peter Van Loo Haig H Kazazian Kathleen H Burns Peter J Campbell Jose M C Tubio Department of Zoology Genetics and Physical Anthropology Universidade de Santiago de Compostela Santiago de Compostela Spain. Biomedical Research Centre (CINBIO) University of Vigo Vigo Spain. Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Transmissible Cancer Group Department of Veterinary Medicine University of Cambridge Cambridge UK. The Biomedical Research Centre (CINBIO) Universidade de Vigo Vigo Spain. Wellcome Sanger Institute Wellcome Genome Campus Cambridge UK. Genome Data Science Institute for Research in Biomedicine (IRB Barcelona) The Barcelona Institute of Science and Technology (BIST) Barcelona Spain. Institucio Catalana de Recerca i Estudis Avançats (ICREA) Barcelona Spain. The Francis Crick Institute London UK. Department of Human Genetics University of Leuven Leuven Belgium. Genomes and Disease Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Graduate School of Medical Science and Engineering Korea Advanced Institute of Science and Technology Daejeon South Korea. Cancer Ageing and Somatic Mutation Programme Wellcome Sanger Institute Cambridge UK. Department of Biochemistry Genetics and Immunology University of Vigo Vigo Spain. Galicia Sur Health Research Institute Vigo Spain. Faculty of Science and Technology University of Vic-Central University of Catalonia (UVic-UCC) Vic Spain. Barcelona Supercomputing Center (BSC) Barcelona Spain. Experimental Cancer Genetics Wellcome Sanger Institute Cambridge UK. Oxford Big Data Institute University of Oxford Oxford UK. DNA Repair and Genome Integrity Centre for Research in Molecular Medicine and Chronic Diseases (CIMUS) Universidade de Santiago de Compostela Santiago de Compostela Spain. Department of Biochemistry and Molecular Biology Universidade de Santiago de Compostela Santiago de Compostela Spain. Medical R

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All-sky, all-frequency directional search for persistent gravitational waves from Advanced LIGO’s and Advanced Virgo’s first three observing runs

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Physical Review D 2022年第12期105卷 122001-122001页

作者： R. Abbott T. D. Abbott F. Acernese K. Ackley C. Adams N. Adhikari R. X. Adhikari V. B. Adya C. Affeldt D. Agarwal M. Agathos K. Agatsuma N. Aggarwal O. D. Aguiar L. Aiello A. Ain P. Ajith T. Akutsu S. Albanesi A. Allocca P. A. Altin A. Amato C. Anand S. Anand A. Ananyeva S. B. Anderson W. G. Anderson M. Ando T. Andrade N. Andres T. Andrić S. V. Angelova S. Ansoldi J. M. Antelis S. Antier S. Appert Koji Arai Koya Arai Y. Arai S. Araki A. Araya M. C. Araya J. S. Areeda M. Arène N. Aritomi N. Arnaud S. M. Aronson K. G. Arun H. Asada Y. Asali G. Ashton Y. Aso M. Assiduo S. M. Aston P. Astone F. Aubin C. Austin S. Babak F. Badaracco M. K. M. Bader C. Badger S. Bae Y. Bae A. M. Baer S. Bagnasco Y. Bai L. Baiotti J. Baird R. Bajpai M. Ball G. Ballardin S. W. Ballmer A. Balsamo G. Baltus S. Banagiri D. Bankar J. C. Barayoga C. Barbieri B. C. Barish D. Barker P. Barneo F. Barone B. Barr L. Barsotti M. Barsuglia D. Barta J. Bartlett M. A. Barton I. Bartos R. Bassiri A. Basti M. Bawaj J. C. Bayley A. C. Baylor M. Bazzan B. Bécsy V. M. Bedakihale M. Bejger I. Belahcene V. Benedetto D. Beniwal T. F. Bennett J. D. Bentley M. BenYaala F. Bergamin B. K. Berger S. Bernuzzi D. Bersanetti A. Bertolini J. Betzwieser D. Beveridge R. Bhandare U. Bhardwaj D. Bhattacharjee S. Bhaumik I. A. Bilenko G. Billingsley S. Bini R. Birney O. Birnholtz S. Biscans M. Bischi S. Biscoveanu A. Bisht B. Biswas M. Bitossi M.-A. Bizouard J. K. Blackburn C. D. Blair D. G. Blair R. M. Blair F. Bobba N. Bode M. Boer G. Bogaert M. Boldrini L. D. Bonavena F. Bondu E. Bonilla R. Bonnand P. Booker B. A. Boom R. Bork V. Boschi N. Bose S. Bose V. Bossilkov V. Boudart Y. Bouffanais A. Bozzi C. Bradaschia P. R. Brady A. Bramley A. Branch M. Branchesi J. E. Brau M. Breschi T. Briant J. H. Briggs A. Brillet M. Brinkmann P. Brockill A. F. Brooks J. Brooks D. D. Brown S. Brunett G. Bruno R. Bruntz J. Bryant T. Bulik H. J. Bulten A. Buonanno R. Buscicchio D. Buskulic C. Buy R. L. Byer L. Cadonati G. Cagnoli C. Cahillane J. Calderón Bustillo J. D. Callaghan T. A. Callis LIGO Laboratory California Institute of Technology Pasadena California 91125 USA Louisiana State University Baton Rouge Louisiana 70803 USA Dipartimento di Farmacia Università di Salerno I-84084 Fisciano Salerno Italy INFN Sezione di Napoli Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy OzGrav School of Physics & Astronomy Monash University Clayton 3800 Victoria Australia LIGO Livingston Observatory Livingston Louisiana 70754 USA University of Wisconsin-Milwaukee Milwaukee Wisconsin 53201 USA OzGrav Australian National University Canberra Australian Capital Territory 0200 Australia Max Planck Institute for Gravitational Physics (Albert Einstein Institute) D-30167 Hannover Germany Leibniz Universität Hannover D-30167 Hannover Germany Inter-University Centre for Astronomy and Astrophysics Pune 411007 India University of Cambridge Cambridge CB2 1TN United Kingdom Theoretisch-Physikalisches Institut Friedrich-Schiller-Universität Jena D-07743 Jena Germany University of Birmingham Birmingham B15 2TT United Kingdom Center for Interdisciplinary Exploration & Research in Astrophysics (CIERA) Northwestern University Evanston Illinois 60208 USA Instituto Nacional de Pesquisas Espaciais 12227-010 São José dos Campos São Paulo Brazil Gravity Exploration Institute Cardiff University Cardiff CF24 3AA United Kingdom INFN Sezione di Pisa I-56127 Pisa Italy International Centre for Theoretical Sciences Tata Institute of Fundamental Research Bengaluru 560089 India Gravitational Wave Science Project National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan INFN Sezione di Torino I-10125 Torino Italy Università di Napoli “Federico II” Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy Université de Lyon Université Claude Bernard Lyon 1 CNRS Institut Lumière Matière F-69622 Villeurbanne France De

We present the first results from an all-sky all-frequency (ASAF) search for an anisotropic stochastic gravitational-wave background using the data from the first three observing runs of the Advanced LIGO and Advanced Virgo detectors. Upper limit maps on broadband anisotropies of a persistent stochastic background were published for all observing runs of the LIGO-Virgo detectors. However, a broadband analysis is likely to miss narrowband signals as the signal-to-noise ratio of a narrowband signal can be significantly reduced when combined with detector output from other frequencies. Data folding and the computationally efficient analysis pipeline, PyStoch, enable us to perform the radiometer map-making at every frequency bin. We perform the search at 3072 HEALPix equal area pixels uniformly tiling the sky and in every frequency bin of width 1/32 Hz in the range 20–1726 Hz, except for bins that are likely to contain instrumental artefacts and hence are notched. We do not find any statistically significant evidence for the existence of narrowband gravitational-wave signals in the analyzed frequency bins. Therefore, we place 95% confidence upper limits on the gravitational-wave strain for each pixel-frequency pair, the limits are in the range (0.030−9.6)×10−24. In addition, we outline a method to identify candidate pixel-frequency pairs that could be followed up by a more sensitive (and potentially computationally expensive) search, e.g., a matched-filtering-based analysis, to look for fainter nearly monochromatic coherent signals. The ASAF analysis is inherently independent of models describing any spectral or spatial distribution of power. We demonstrate that the ASAF results can be appropriately combined over frequencies and sky directions to successfully recover the broadband directional and isotropic results.

关键词： Gravitational wave detection Gravitational waves

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Constraints on dark photon dark matter using data from LIGO’s and Virgo’s third observing run

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Physical Review D 2022年第6期105卷 063030-063030页

作者： R. Abbott T. D. Abbott F. Acernese K. Ackley C. Adams N. Adhikari R. X. Adhikari V. B. Adya C. Affeldt D. Agarwal M. Agathos K. Agatsuma N. Aggarwal O. D. Aguiar L. Aiello A. Ain P. Ajith T. Akutsu S. Albanesi A. Allocca P. A. Altin A. Amato C. Anand S. Anand A. Ananyeva S. B. Anderson W. G. Anderson M. Ando T. Andrade N. Andres T. Andrić S. V. Angelova S. Ansoldi J. M. Antelis S. Antier S. Appert Koji Arai Koya Arai Y. Arai S. Araki A. Araya M. C. Araya J. S. Areeda M. Arène N. Aritomi N. Arnaud S. M. Aronson K. G. Arun H. Asada Y. Asali G. Ashton Y. Aso M. Assiduo S. M. Aston P. Astone F. Aubin C. Austin S. Babak F. Badaracco M. K. M. Bader C. Badger S. Bae Y. Bae A. M. Baer S. Bagnasco Y. Bai L. Baiotti J. Baird R. Bajpai M. Ball G. Ballardin S. W. Ballmer A. Balsamo G. Baltus S. Banagiri D. Bankar J. C. Barayoga C. Barbieri B. C. Barish D. Barker P. Barneo F. Barone B. Barr L. Barsotti M. Barsuglia D. Barta J. Bartlett M. A. Barton I. Bartos R. Bassiri A. Basti M. Bawaj J. C. Bayley A. C. Baylor M. Bazzan B. Bécsy V. M. Bedakihale M. Bejger I. Belahcene V. Benedetto D. Beniwal T. F. Bennett J. D. Bentley M. BenYaala F. Bergamin B. K. Berger S. Bernuzzi D. Bersanetti A. Bertolini J. Betzwieser D. Beveridge R. Bhandare U. Bhardwaj D. Bhattacharjee S. Bhaumik I. A. Bilenko G. Billingsley S. Bini R. Birney O. Birnholtz S. Biscans M. Bischi S. Biscoveanu A. Bisht B. Biswas M. Bitossi M.-A. Bizouard J. K. Blackburn C. D. Blair D. G. Blair R. M. Blair F. Bobba N. Bode M. Boer G. Bogaert M. Boldrini L. D. Bonavena F. Bondu E. Bonilla R. Bonnand P. Booker B. A. Boom R. Bork V. Boschi N. Bose S. Bose V. Bossilkov V. Boudart Y. Bouffanais A. Bozzi C. Bradaschia P. R. Brady A. Bramley A. Branch M. Branchesi J. E. Brau M. Breschi T. Briant J. H. Briggs A. Brillet M. Brinkmann P. Brockill A. F. Brooks J. Brooks D. D. Brown S. Brunett G. Bruno R. Bruntz J. Bryant T. Bulik H. J. Bulten A. Buonanno R. Buscicchio D. Buskulic C. Buy R. L. Byer L. Cadonati G. Cagnoli C. Cahillane J. Calderón Bustillo J. D. Callaghan T. A. Callis LIGO Laboratory California Institute of Technology Pasadena California 91125 USA Louisiana State University Baton Rouge Louisiana 70803 USA Dipartimento di Farmacia Università di Salerno I-84084 Fisciano Salerno Italy INFN Sezione di Napoli Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy OzGrav School of Physics and Astronomy Monash University Clayton 3800 Victoria Australia LIGO Livingston Observatory Livingston Louisiana 70754 USA University of Wisconsin-Milwaukee Milwaukee Wisconsin 53201 USA OzGrav Australian National University Canberra Australian Capital Territory 0200 Australia Max Planck Institute for Gravitational Physics (Albert Einstein Institute) D-30167 Hannover Germany Leibniz Universität Hannover D-30167 Hannover Germany Inter-University Centre for Astronomy and Astrophysics Pune 411007 India University of Cambridge Cambridge CB2 1TN United Kingdom Theoretisch-Physikalisches Institut Friedrich-Schiller-Universität Jena D-07743 Jena Germany University of Birmingham Birmingham B15 2TT United Kingdom Center for Interdisciplinary Exploration and Research in Astrophysics (CIERA) Northwestern University Evanston Illinois 60208 USA Instituto Nacional de Pesquisas Espaciais 12227-010 São José dos Campos São Paulo Brazil Gravity Exploration Institute Cardiff University Cardiff CF24 3AA United Kingdom INFN Sezione di Pisa I-56127 Pisa Italy International Centre for Theoretical Sciences Tata Institute of Fundamental Research Bengaluru 560089 India Gravitational Wave Science Project National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan Advanced Technology Center National Astronomical Observatory of Japan (NAOJ) Mitaka City Tokyo 181-8588 Japan INFN Sezione di Torino I-10125 Torino Italy Università di Napoli “Federico II” Complesso Universitario di Monte S. Angelo I-80126 Napoli Italy Université de Lyon Université Claude Bernard Lyon 1 CNRS Institut Lumière Matière F-69622 Villeurbanne Franc

We present a search for dark photon dark matter that could couple to gravitational-wave interferometers using data from Advanced LIGO and Virgo’s third observing run. To perform this analysis, we use two methods, one based on cross-correlation of the strain channels in the two nearly aligned LIGO detectors, and one that looks for excess power in the strain channels of the LIGO and Virgo detectors. The excess power method optimizes the Fourier transform coherence time as a function of frequency, to account for the expected signal width due to Doppler modulations. We do not find any evidence of dark photon dark matter with a mass between mA∼10−14–10−11 eV/c2, which corresponds to frequencies between 10–2000 Hz, and therefore provide upper limits on the square of the minimum coupling of dark photons to baryons, i.e., U(1)B dark matter. For the cross-correlation method, the best median constraint on the squared coupling is ∼1.31×10−47 at mA∼4.2×10−13 eV/c2; for the other analysis, the best constraint is ∼2.4×10−47 at mA∼5.7×10−13 eV/c2. These limits improve upon those obtained in direct dark matter detection experiments by a factor of ∼100 for mA∼[2–4]×10−13 eV/c2, and are, in absolute terms, the most stringent constraint so far in a large mass range mA∼2×10−13–8×10−12 eV/c2.

关键词： Dark matter Gravitational wave detectors

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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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Author Correction: Stretchable, dynamic covalent polymers for soft, long-lived bioresorbable electronic stimulators designed to facilitate neuromuscular regeneration

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Nature communications 2021年第1期12卷 415页

作者： Yeon Sik Choi Yuan-Yu Hsueh Jahyun Koo Quansan Yang Raudel Avila Buwei Hu Zhaoqian Xie Geumbee Lee Zheng Ning Claire Liu Yameng Xu Young Joong Lee Weikang Zhao Jun Fang Yujun Deng Seung Min Lee Abraham Vázquez-Guardado Iwona Stepien Ying Yan Joseph W Song Chad Haney Yong Suk Oh Wentai Liu Hong-Joon Yoon Anthony Banks Matthew R MacEwan Guillermo A Ameer Wilson Z Ray Yonggang Huang Tao Xie Colin K Franz Song Li John A Rogers Center for Bio-Integrated Electronics Northwestern University Evanston IL 60208 USA. Querrey Simpson Institute for Biotechnology Northwestern University Evanston IL 60208 USA. Department of Materials Science and Engineering Northwestern University Evanston IL 60208 USA. Department of Bioengineering University of California Los Angeles Los Angeles CA 90095 USA. Division of Plastic and Reconstructive Surgery Department of Surgery National Cheng Kung University Hospital College of Medicine National Cheng Kung University Tainan 70456 Taiwan. International Research Center for Wound Repair and Regeneration National Cheng Kung University Tainan 70456 Taiwan. School of Biomedical Engineering Korea University Seoul 02841 Republic of Korea. Interdisciplinary Program in Precision Public Health Korea University Seoul 02841 Republic of Korea. Department of Mechanical Engineering Northwestern University Evanston IL 60208 USA. Department of Medicine University of California Los Angeles Los Angeles CA 90095 USA. State Key Laboratory of Structural Analysis for Industrial Equipment Dalian University of Technology 116024 Dalian China. Department of Engineering Mechanics Dalian University of Technology 116024 Dalian China. International Research Center for Computational Mechanics Dalian University of Technology 116024 Dalian China. State Key Laboratory of Chemical Engineering College of Chemical and Biological Engineering Zhejiang University 310027 Hangzhou China. Department of Biomedical Engineering Northwestern University Evanston IL 60208 USA. State Key Laboratory of Mechanical System and Vibration Shanghai Jiao Tong University 200240 Shanghai China. Center for Developmental Therapeutics Chemistry Life Processes Institute Northwestern University Evanston IL 60208 USA. Department of Neurological Surgery Washington University School of Medicine St. Louis MO 63110 USA. Center for Advanced Molecular Imaging Northwestern University Evanston IL

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

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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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Publisher Correction: Accurate estimation of cell composition in bulk expression through robust integration of single-cell information

引用

Nature communications 2020年第1期11卷 2891页

作者： Brandon Jew Marcus Alvarez Elior Rahmani Zong Miao Arthur Ko Kristina M Garske Jae Hoon Sul Kirsi H Pietiläinen Päivi Pajukanta Eran Halperin Bioinformatics Interdepartmental Program UCLA Los Angeles CA 90095 USA. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. Department of Computer Science School of Engineering UCLA Los Angeles CA 90095 USA. Department of Psychiatry and Biobehavioral Sciences UCLA Los Angeles CA 90095 USA. Obesity Research Unit Research Program for Clinical and Molecular Metabolism University of Helsinki Helsinki 00014 Finland. Obesity Center Endocrinology Abdominal Center Helsinki University Central Hospital and University of Helsinki Helsinki 00260 Finland. Bioinformatics Interdepartmental Program UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Institute for Precision Health School of Medicine UCLA Los Angeles CA 90095 USA. ppajukanta@mednet.ucla.edu. Department of Human Genetics David Geffen School ofMedicine at UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Computer Science School of Engineering UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Anesthesiology UCLA Health Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu. Department of Computational Medicine School of Medicine UCLA Los Angeles CA 90095 USA. ehalperin@cs.ucla.edu.

An amendment to this paper has been published and can be accessed via a link at the top of the paper.

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