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arXiv 2022年

作者： Sanchis-Lozano, Miguel A. Melia, F. López-Corredoira, M. Sanchis-Gual, N. Departamento de Física Teórica Centro Mixto Universitat de València-CSIC Dr. Moliner 50 BurjassotE-46100 Spain Department of Physics The Applied Math Program Department of Astronomy The University of Arizona TucsonAZ85721 United States Instituto de Astrofísica de Canarias Tenerife La LagunaE-38205 Spain Departamento de Astrofisica Universidad de La Laguna Tenerife La LagunaE-38206 Spain Campus de Santiago Aveiro3810-183 Portugal

Context. The existence of a maximum correlation angle (θmax 60◦) in the two-point angular temperature correlations of cosmic microwave background (CMB) radiation, measured by WMAP and Planck, stands in sharp contrast to the prediction of standard inflationary cosmology, in which the correlations should extend across the full sky (i.e., 180◦). The introduction of a hard lower cutoff (kmin) in the primordial power spectrum, however, leads naturally to the existence of θmax. Among other cosmological anomalies detected in these data, an apparent dominance of odd-over-even parity multipoles has been seen in the angular power spectrum of the CMB. This feature, however, may simply be due to observational contamination in certain regions of the sky. Aims. In attempting to provide a more detailed assessment of whether this odd-over-even asymmetry is intrinsic to the CMB, we therefore proceed in this paper, first, to examine whether this odd-even parity imbalance also manifests itself in the angular correlation function and, second, to examine in detail the interplay between the presence of θmax and this observed anomaly. Methods. We employed several parity statistics and recalculated the angular correlation function for different values of the cutoff kmin in order to optimize the fit to the different Planck 2018 data. Results. We find a phenomenological connection between these features in the data, concluding that both must be considered together in order to optimize the theoretical fit to the Planck 2018 data. Conclusions. This outcome is independent of whether the parity imbalance is intrinsic to the CMB, but if it is, the odd-over-even asymmetry would clearly point to the emergence of new physics. Copyright © 2022, The Authors. All rights reserved.

关键词： Cosmology

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AGE OF MASSIVE GALAXIES AT REDSHIFT 8

arXiv

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arXiv 2024年

作者： López-Corredoira, Martin V. Melia, F. Wei, J.-J. Gao, C.-Y. Instituto de Astrofisica de Canarias La Laguna TenerifeE-38205 Spain PIFI-Visiting Scientist 2023 Chinese Academy of Sciences at PMO6 National Astronomical Observatories Beijing100012 China Departamento de Astrofisica Universidad de La Laguna La Laguna TenerifeE-38206 Spain Department of Physics The Applied Math Program Department of Astronomy The University of Arizona AZ 85721 United States Purple Mountain Observatory Chinese Academy of Sciences Nanjing210023 China School of Astronomy and Space Sciences University of Science and Technology of China Hefei230026 China

Recent James Webb Space Telescope (JWST) data analyses have shown that massive red galaxies existed at redshifts z >∼ 6, a discovery that is difficult to understand in the context of standard cosmology (ΛCDM). Here we analyze these observations more deeply by fitting a stellar population model to the optical and near-infrared photometric data. These fits include a main stellar population in addition to a residual younger population and with the same extinction for both (a lower extinction for the younger population is unphysical). Extra stellar populations or the inclusion of an AGN component do not significantly improve the fits. These galaxies are being viewed at very high redshifts, with an average ≈ 8.2, when the ΛCDM Universe was only ≈ 600 Myr old. This result conflicts with the inferred ages of these galaxies, however, which were on average between 0.9 and 2.4 Gyr old within 95% CL. Given the sequence of star formation and galaxy assembly in the standard model, these galaxies should instead be even younger than 290 Myr on average, for which our analysis assigns a probability of only −4 ( 3.6σ tension). This outcome may indicate the need to consider non-standard cosmologies. Nevertheless, our conclusions result from several approximations in stellar astrophysics and extinction, so they should be taken with a grain of salt. Further research is necessary to corroborate the possible existence of galaxies older than the ΛCDM universe at their observed redshifts. Copyright © 2024, The Authors. All rights reserved.

关键词： Galaxies

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The Manifold Scattering Transform for High-Dimensional Point Cloud Data

arXiv

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arXiv 2022年

作者： Chew, Joyce Steach, Holly R. Viswanath, Siddharth Wu, Hau-Tieng Hirn, Matthew Needell, Deanna Krishnaswamy, Smita Perlmutter, Michael UCLA Department of Mathematics Los AngelesCA United States Yale University Department of Genetics New HavenCT United States UC Irvine Department of Computer Science IrvineCA United States Duke University Department of Mathematics DurhamNC United States Duke University Department of Statistical Science DurhamNC United States Michigan State University Department of Mathematics East Lansing United States Michigan State University Department of CMSE East Lansing United States Yale University Department of Computer Science New HavenCT United States Yale University Applied Math Program New HavenCT United States

The manifold scattering transform is a deep feature extractor for data defined on a Riemannian manifold. It is one of the first examples of extending convolutional neural network-like operators to general manifolds. The initial work on this model focused primarily on its theoretical stability and invariance properties but did not provide methods for its numerical implementation except in the case of two-dimensional surfaces with predefined meshes. In this work, we present practical schemes, based on the theory of diffusion maps, for implementing the manifold scattering transform to datasets arising in naturalistic systems, such as single cell genetics, where the data is a high-dimensional point cloud modeled as lying on a low-dimensional manifold. We show that our methods are effective for signal classification and manifold classification *** Codes 68T07 Copyright © 2022, The Authors. All rights reserved.

关键词： Numerical methods

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Ecological model of interactions between escaped and wild Atlantic salmonSalmo salar

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Journal of Fish Biology 2004年第S1期65卷

作者： A. Stephens A. B. Cooper (1Ocean Sciences Ph.D. Program Mangel Lab Applied Math and Statistics University of California Santa Cruz Santa Cruz CA 95060 U.S.A. 2College of Life Sciences and Agriculture University of New Hampshire Taylor Hall Durham NH 03824 U.S.A.).

Atlantic salmon in Maine were once abundant but have become depleted, and are listed as endangered under the federal Endangered Species Act. Historically, salmon numbers in Maine may have been as high as 100 000 adults, but habitat loss, pollution and overfishing have contributed to the decline of the species. In 2000, only 110 adults returned to spawn in Maine rivers. Maine produces c. 15 000 metric tons/year of aquacultured Atlantic salmon from a total of nearly 600 coastal net pens. Escapees from these pens may interact with the wild salmon. The dynamics of salmon populations under such conditions are poorly understood. In order to illuminate the role aquaculture may play in such a system, we have developed a model for simulating population trajectories for both wild salmon and competing populations derived from aquaculture escapes. The model simulates a small population of wild salmon based in a stream/estuary system, into which an aquaculture facility is losing fish to escapes. Biological parameters in the model were estimated as much as possible from data in the USFWS report on Maine salmon. We used the model to investigate the consequences of a variety of ecological interactions between the wild and cultured fish including competitive, genetic and disease effects. Initial results indicate that many of these effects allow the aquaculture‐derived population to supplant the wild fish, but that wild populations may still persist under some conditions.

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Organ-on-a-Chip: Ex vivo Dynamics of Human Glioblastoma Cells in a Microvasculature-on-a-Chip System Correlates with Tumor Heterogeneity and Subtypes (Adv. Sci. 8/2019)

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Advanced Science 2019年第8期6卷 1970046-1970046页

作者： Yang Xiao Dongjoo Kim Burak Dura Kerou Zhang Runchen Yan Huamin Li Edward Han Joshua Ip Pan Zou Jun Liu Ann Tai Chen Alexander O. Vortmeyer Jiangbing Zhou Rong Fan Department of Biomedical Engineering Yale University New Haven CT 06520 USA School of Computer Science Carnegie Mellon University Pittsburgh PA 15213 USA Applied Math Program Yale University New Haven CT 06520 USA Department of Neurosurgery Yale School of Medicine New Haven CT 06520 USA Department of Pathology Indiana University Health Pathology Laboratory Indianapolis IN 46202 USA Yale Comprehensive Cancer Center New Haven CT 06520 USA

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Building Ramps and Pathways to Data Science in K-12, Minority-Serving Institutions, and Two-Year Colleges

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Scatterplot 2024年第1期1卷

作者： Rachel Saidi Helen Burn Ben Baumer Jason Black Debzani Deb Zarek Drozda a Math Statistics and Data Science Department Montgomery College – Rockville Campus Rockville MD USA b Mathematics Department Highline College Des Moines Washington Des Moines WA USA c Statistical and Data Sciences Department Smith College Northampton MA USA d School of Business and Interdisciplinary Center for Creativity and Innovation (ICCI) Florida A&M University Tallahassee FL USA e Computer Science Department Center for Applied Data Science (CADS) Winston-Salem State University Winston-Salem NC USA f Data Science 4 Everyone (DS4E) Program University of Chicago Chicago IL USA

Global demand for data scientists and analysts is on a trajectory of sustained growth, underscoring the need to expand enrollment of students in data science and data analytics courses and programs. This article explores diverse pathways to data science for various groups, including high school students, those in two-year colleges, and students in small colleges and minority-serving institutions. This article identifies opportunities and challenges associated with pursuing data science for students in these sectors, including factors such as building partnerships and awareness of the field and difficulties in establishing articulation agreements between institutions. The authors, representing various organizations participating in a panel discussion at the 2023 Data Science Leadership Summit of the Academic Data Science Alliance (ADSA), share insights into efforts to develop nontraditional pathways, serving as a resource for schools, colleges, and organizations contemplating creation of data science programs. The panelists’ combined experience spans work with a broad range of organizations including ADSA, American mathematics Association of Two-Year Colleges, American Statistical Association, Data Science for Everyone, the Department of Education, HBCU Data Science Consortium, mathematical Association of America, National Academies of Science, Engineering, and Medicine, HBCU Data Science Consortium, National Science Foundation, and StatPREP.

关键词： Data science pathways access K-12 minority-serving institution two-year college

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Correction to: binomialRF: interpretable combinatoric efficiency of random forests to identify biomarker interactions

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BMC bioinformatics 2020年第1期21卷 495页

作者： Samir Rachid Zaim Colleen Kenost Joanne Berghout Wesley Chiu Liam Wilson Hao Helen Zhang Yves A Lussier Center for Biomedical Informatics and Biostatistics University of Arizona Health Sciences 1230 N. Cherry Ave Tucson AZ 85721 USA. The Graduate Interdisciplinary Program in Statistics The University of Arizona 617 N. Santa Rita Ave Tucson AZ 85721 USA. College of Medicine Tucson 1501 N. Campbell Ave Tucson AZ 85721 USA. Center for Biomedical Informatics and Biostatistics University of Arizona Health Sciences 1230 N. Cherry Ave Tucson AZ 85721 USA. hzhang@math.arizona.edu. The Graduate Interdisciplinary Program in Statistics The University of Arizona 617 N. Santa Rita Ave Tucson AZ 85721 USA. hzhang@math.arizona.edu. Department of Mathematics College of Sciences The University of Arizona 617 N. Santa Rita Ave Tucson AZ 85721 USA. hzhang@math.arizona.edu. Center for Biomedical Informatics and Biostatistics University of Arizona Health Sciences 1230 N. Cherry Ave Tucson AZ 85721 USA. Lussier.Y@***. The Graduate Interdisciplinary Program in Statistics The University of Arizona 617 N. Santa Rita Ave Tucson AZ 85721 USA. Lussier.Y@***. College of Medicine Tucson 1501 N. Campbell Ave Tucson AZ 85721 USA. Lussier.Y@***. The Center for Applied Genetic and Genomic Medicine 1295 N. Martin Tucson AZ 85721 USA. Lussier.Y@***. The University of Arizona Cancer Center 3838 N. Campbell Ave Tucson AZ 85721 USA. Lussier.Y@***. The University of Arizona BIO5 Institute 1657 E. Helen Street Tucson AZ 85721 USA. Lussier.Y@***.

An amendment to this paper has been published and can be accessed via the original article.

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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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Tracing the transmission of mpox through wastewater surveillance in Southeast Asia

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JOURNAL OF TRAVEL MEDICINE 2023年第5期30卷 taad096-taad096页

作者： Wannigama, Dhammika Leshan Amarasiri, Mohan Phattharapornjaroen, Phatthranit Hurst, Cameron Modchang, Charin Chadsuthi, Sudarat Anupong, Suparinthon Miyanaga, Kazuhiko Cui, Longzhu Thuptimdang, Wanwara Rad, S. M. Ali Hosseini Fernandez, Stefan Huang, Angkana T. Vatanaprasan, Porames Jay, Dylan John Saethang, Thammakorn Luk-in, Sirirat Storer, Robin James Ounjai, Puey Ragupathi, Naveen Kumar Devanga Kanthawee, Phitsanuruk Sano, Daisuke Furukawa, Takashi Sei, Kazunari Leelahavanichkul, Asada Kanjanabuch, Talerngsak Higgins, Paul G. Nanbo, Asuka Kicic, Anthony Singer, Andrew C. Chatsuwan, Tanittha Trowsdale, Sam Siow, Richard Shibuya, Kenji Abe, Shuichi Ishikawa, Hitoshi Hongsing, Parichart Yamagata Prefectural Cent Hosp Dept Infect Dis & Infect Control Aoyagi Yamagata Japan Chulalongkorn Univ King Chulalongkorn Mem Hosp Thai Red Cross Soc Fac MedDept Microbiol Bangkok Thailand Chulalongkorn Univ Ctr Excellencein Antimicrobial Resistance & Stewa Bangkok Thailand Univ Western Australia Sch Med Fac Hlth & Med Sci Nedlands WA Australia Univ Sheffield Biofilms & Antimicrobial Resistance Consortium OD Sheffield S Yorkshire England Yamagata Prefectural Cent Hosp Pathogen Hunters Res Collaborat Team Dept Infect Dis & Infect Control Aoyagi Yamagata Japan Kitasato Univ Grad Sch Med Sci Sch Allied Hlth Sci Lab Environm HygDept Hlth Sci Minami Kanagawa Japan Mahidol Univ Ramathibodi Hosp Fac Med Bangkok Thailand Gothenburg Univ Sahlgrenska Acad Inst Clin Sci Dept Surg Univ Platsen 1 Gothenburg 40530 Sweden Charles Darwin Univ Molly Wardaguga Res Ctr Brisbane Qld Australia QIMR Berghofer Med Res Inst Stat Brisbane Qld Australia Mahidol Univ Fac Sci Biophys Grp Dept Phys Bangkok Thailand MHESI Ctr Excellence Math Bangkok Thailand Minist Higher Educ Sci Res & Innovat Thailand Ctr Excellence Phys Bangkok Thailand Naresuan Univ Fac Sci Dept Phys Phitsanulok Thailand Jichi Med Univ Sch Med Div Bacteriol Shimotsuke Tochigi Japan Prince Songkla Univ Fac Med Inst Biomed Engn Dept Biomed Sci & Biomed Engn Hat Yai Songkhla Thailand Univ Otago Dept Microbiol & Immunol Dunedin New Zealand Chulalongkorn Univ Ctr Excellence Immunol & Immune Med Dis Bangkok Thailand US Army Med Direct Armed Forces Res Inst Med Sci Dept Virol Bangkok Thailand Kasetsart Univ Fac Sci Dept Comp Sci Bangkok Thailand Mahidol Univ Fac Med Technol Dept Clin Microbiol & Applied Tech Nakhon Pathom Thailand Chulalongkorn Univ Fac Med Off Res Affairs Bangkok Thailand Mahidol Univ Fac Med Dept Biol Bangkok Thailand Univ Sheffield Dept Chem & Biol Engn Sheffield S Yorkshire England Bioberrys Hlthcare & Res Ctr Div Microbial Interact Dept Res & Dev

High population density and tourism in Southeast Asia increase the risk of mpox due to frequent interpersonal contacts. Our wastewater surveillance in six Southeast Asian countries revealed positive signals for Monkeypox virus (MPXV) DNA, indicating local transmission. This alerts clinicians and helps allocate resources like testing, vaccines and therapeutics in resource-limited countries.

关键词： Tracing transmission mpox wastewaters surveillances Southeast Asia WBE

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Contribution of copy number variants to schizophrenia from a genome-wide study of 41,321 subjects

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NATURE GENETICS 2017年第1期49卷 27-35页

作者： Marshall, Christian R. Howrigan, Daniel P. Merico, Daniele Thiruvahindrapuram, Bhooma Wu, Wenting Greer, Douglas S. Antaki, Danny Shetty, Aniket Holmans, Peter A. Pinto, Dalila Gujral, Madhusudan Brandler, William M. Malhotra, Dheeraj Wang, Zhouzhi Fajarado, Karin V. Fuentes Maile, Michelle S. Ripke, Stephan Agartz, Ingrid Albus, Margot Alexander, Madeline Amin, Farooq Atkins, Joshua Bacanu, Silviu A. Belliveau, Richard A., Jr. Bergen, Sarah E. Ertalan, Marcelo Bevilacqua, Elizabeth Bigdeli, Tim B. Black, Donald W. Bruggeman, Richard Buccola, Nancy G. Buckner, Randy L. Bulik-Sullivan, Brendan Byerley, William Cahn, Wiepke Cai, Guiqing Cairns, Murray J. Campion, Dominique Cantor, Rita M. Carr, Vaughan J. Carrera, Noa Catts, Stanley V. Chambert, Kimberley D. Cheng, Wei Cloninger, C. Robert Cohen, David Cormican, Paul Craddock, Nick Crespo-Facorro, Benedicto Crowley, James J. Curtis, David Davidson, Michael Davis, Kenneth L. Degenhardt, Franziska Del Favero, Jurgen DeLisi, Lynn E. Dikeos, Dimitris Dinan, Timothy Djurovic, Srdjan Donohoe, Gary Drapeau, Elodie Duan, Jubao Dudbridge, Frank Eichhammer, Peter Eriksson, Johan Escott-Price, Valentina Essioux, Laurent Fanous, Ayman H. Farh, Kai-How Farrell, Martilias S. Frank, Josef Franke, Lude Freedman, Robert Freimer, Nelson B. Friedman, Joseph I. Forstner, Andreas J. Fromer, Menachem Genovese, Giulio Georgieva, Lyudmila Gershon, Elliot S. Giegling, Ina Giusti-Rodriguez, Paola Godard, Stephanie Goldstein, Jacqueline I. Gratten, Jacob de Haan, Lieuwe Hamshere, Marian L. Hansen, Mark Hansen, Thomas Haroutunian, Vahram Hartmann, Annette M. Henskens, Frans A. Herms, Stefan Hirschhorn, Joel N. Hoffinann, Per Hofman, Andrea Huang, Hailiang Ikeda, Masashi Joa, Inge Kahler, Anna K. Kahn, Rene S. Kalaydjieva, Luba Karjalainen, Juha Kavanagh, David Keller, Matthew C. Kelly, Brian J. Kennedy, James L. Kim, Yunjung Knowles, James A. Konte, Bettina Laurent, Claudine Lee, Phil Lee, S. Hong Legge, Sophie E. Lerer, Bernard Levy, Deborah L. Liang, Kung-Yee Lieberman, Jeffrey Lonnqvist, J Hosp Sick Children Ctr Appl Genom Toronto ON Canada Hosp Sick Children Program Genet & Genome Biol Toronto ON Canada Massachusetts Gen Hosp Analyt & Translat Genet Unit Boston MA 02114 USA Broad Inst MIT & Harvard Stanley Ctr Psychiat Res Cambridge MA USA Univ Calif San Diego Beyster Ctr Psychiat Genom La Jolla CA 92093 USA Univ Calif San Diego Dept Psychiat La Jolla CA 92093 USA Cardiff Univ Inst Psychol Med & Clin Neurosci Sch Med MRC Ctr Neuropsychiat Genet & Genom Cardiff S Glam Wales Cardiff Univ Natl Ctr Mental Hlth Cardiff S Glam Wales Icahn Sch Med Mt Sinai Dept Psychiat New York NY USA Icahn Sch Med Mt Sinai Mindich Child Hlth & Dev Inst Dept Genet & Genom Sci Seaver Autism Ctr New York NY USA F Hoffmann La Roche Ltd Neurosci Discovery & Translat Area Pharma Res & Early Dev Basel Switzerland Univ Oslo Inst Clin Med KG Jebsen Ctr Psychosis Res NORMENT Oslo Norway Diakonhjemmet Hosp Dept Psychiat Oslo Norway Karolinska Inst Psychiat Sect Dept Clin Neurosci Stockholm Sweden State Mental Hosp Haar Germany Stanford Univ Dept Psychiat & Behav Sci Stanford CA 94305 USA Emory Univ Dept Psychiat & Behav Sci Atlanta GA 30322 USA Atlanta Vet Affairs Med Ctr Dept Psychiat & Behav Sci Atlanta GA USA Univ Newcastle Sch Biomed Sci & Pharm Callaghan NSW Australia Hunter Med Res Inst New Lambton NSW Australia Virginia Commonwealth Univ Virginia Inst Psychiat & Behav Genet Dept Psychiat Richmond VA USA Karolinska Inst Dept Med Epidemiol & Biostat Stockholm Sweden Mental Hlth Serv Copenhagen Inst Biol Psychiat Mental Hlth Ctr Set Copenhagen Denmark iPSYCH Lundbeck Fdn Initiat Integrat Psychiat Res Aaarhus Denmark Univ Iowa Carver Coll Med Dept Psychiat Iowa City IA USA Univ Groningen Univ Med Ctr Groningen Dept Psychiat Groningen Netherlands Louisiana State Univ Hlth Sci Ctr Sch Nursing New Orleans LA USA Harvard Univ Ctr Brain Sci Cambridge MA 02138 USA Massachusetts Gen Hosp Dept Psychiat Boston MA 02114 USA Massachuse

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk has been hampered by limited sample sizes. We sought to address this obstacle by applying a centralized analysis pipeline to a SCZ cohort of 21,094 cases and 20,227 controls. A global enrichment of CNV burden was observed in cases (odds ratio (OR) = 1.11, P = 5.7 x 10(-15)), which persisted after excluding loci implicated in previous studies (OR = 1.07, P = 1.7 x 10(-6)). CNV burden was enriched for genes associated with synaptic function (OR = 1.68, P = 2.8 x 10(-11)) and neurobehavioral phenotypes in mouse (OR = 1.18, P = 7.3 x 10(-5)). Genome-wide significant evidence was obtained for eight loci, including 1q21.1, 2p16.3 (NRXN1), 3q29, 7q11.2, 15q13.3, distal 16p11.2, proximal 16p11.2 and 22q11.2. Suggestive support was found for eight additional candidate susceptibility and protective loci, which consisted predominantly of CNVs mediated by nonallelic homologous recombination.

关键词： Genetics research Genomics Schizophrenia

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