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Penetrance of neurodevelopmental copy number variants is associated with variations in cortical morphology

Biological psychiatry. Cognitive neuroscience and neuroimaging 2025年

作者： Ana I Silva Ida E Sønderby George Kirov Abdel Abdellaoui Ingrid Agartz David Ames Nicola J Armstrong Eric Artiges Tobias Banaschewski Anne S Bassett Carrie E Bearden John Blangero Rune Boen Dorret I Boomsma Robin Bülow Nancy J Butcher Vince Calhoun Linda E Campbell Eva W C Chow Simone Ciufolini Michael C Craig Benedicto Crespo-Farroco Adam C Cunningham Shareefa Dalvie Eileen Daly Paola Dazzan Eco J C de Geus Greig I de Zubicaray Joanne L Doherty Gary Donohoe Mark Drakesmith Thomas Espeseth Vincent Frouin Hugh Garavan David C Glahn Naomi J Goodrich-Hunsaker Penny A Gowland Hans J Grabe Antoine Grigis Maria Gudbrandsen Boris A Gutman Jan Haavik Asta K Håberg Jeremy Hall Andreas Heinz Sarah Hohmann Jouke-Jan Hottenga Sébastien Jacquemont Neda Jahanshad Rachel K Jonas Derek K Jones Erik G Jönsson Sanne Koops Kuldeep Kumar Stephanie Le Hellard Herve Lemaitre Jingyu Liu Astri J Lundervold Jean-Luc Martinot Karen A Mather Donna M McDonald-McGinn Katie L McMahon Allan F McRae Sarah E Medland Clara A Moreau Kieran C Murphy Declan Murphy Robin M Murray Frauke Nees Michael J Owen Marie-Laure Paillère Martinot Diimitri Papadopoulos Orfanos Tomas Paus Luise Poustka Tiago Reis Marques David R Roalf Perminder S Sachdev Freda Scheffler J Eric Schmitt Gunter Schumann Vidar M Steen Dan J Stein Lachlan T Strike Alexander Teumer Anbupalam Thalamuthu Sophia I Thomopoulos Diana Tordesillas-Gutiérrez Julian N Trollor Anne Uhlmann Ariana Vajdi Dennis van 't Ent Therese van Amelsvoort Marianne B M van den Bree Dennis van der Meer Javier Vázquez-Bourgon Julio E Villalón-Reina Uwe Völker Henry Völzke Jacob A S Vorstman Lars T Westlye Nigel Williams Katharina Wittfeld Margaret J Wright Paul M Thompson Ole A Andreassen David E J Linden School for Mental Health and Neuroscience Department of Psychiatry and Neuropsychology Faculty of Health Medicine and Life Sciences Maastricht University Maastricht The Netherlands Neuroscience and Mental Health Innovation Institute Cardiff University Cardiff United Kingdom Center for Magnetic Resonance Research Department of Radiology University of Minnesota Minneapolis MN USA. Electronic address: silvaai@um.edu. Centre for Precision Psychiatry Institute of Clinical Medicine University of Oslo Oslo Norway Department of Medical Genetics Oslo University Hospital Oslo Norway KG Jebsen Centre for Neurodevelopmental Disorders University of Oslo Oslo Norway. Division of Psychological Medicine and Clinical Neurosciences Cardiff University Cardiff United Kingdom Centre for Neuropsychiatric Genetics and Genomics School of Medicine Cardiff University Cardiff United Kingdom. Department of Psychiatry Amsterdam UMC University of Amsterdam Amsterdam the Netherlands. Norwegian Centre for Mental Disorders Research (NORMENT) Institute of Clinical Medicine University of Oslo Oslo Norway Centre for Psychiatry Research Department of Clinical Neuroscience Karolinska Institutet & Stockholm Health Care Services Stockholm Region Stockholm Sweden Department of Psychiatric Research Diakonhjemmet Hospital Oslo Norway. University of Melbourne Academic Unit for Psychiatry of Old Age Kew Victoria Australia. Mathematics and Statistics Curtin University Perth WA Australia. Institut National de la Santé et de la Recherche Médicale INSERM U1299 "Trajectoires développementales et psychiatrie" Université Paris-Saclay Ecole Normale supérieure Paris-Saclay CNRS Centre Borelli Gif-sur-Yvette France Psychiatry Department EPS Barthélémy Durand Etampes Île-de-France France. Department of Child and Adolescent Psychiatry and Psychotherapy Central Institute of Mental Health Medical Faculty Mannheim University of Heidelberg Mannheim Germany. Clinical Genetics Research Program Centre for

BACKGROUND:Copy number variants (CNVs) increase risk for neurodevelopmental conditions. The neurobiological mechanisms linking these high-risk genetic variants to clinical phenotypes are largely unknown. An important question is whether brain abnormalities in individuals carrying CNVs are associated with their degree of penetrance. METHODS:We investigated if increased CNV-penetrance for schizophrenia and other developmental disorders was associated with variations in cortical and subcortical morphology. We pooled T1-weighted brain magnetic resonance imaging and genetic data from 22 cohorts from the ENIGMA-CNV consortium. In the main analyses, we included 9,268 individuals (aged 7 to 90 years, 54% females), from which we identified 398 carriers of 36 neurodevelopmental CNVs at 20 distinct loci. A secondary analysis was performed including additional neuroimaging data from the ENIGMA-22q consortium, including 274 carriers of the 22q11.2 deletion and 291 non-carriers. CNV-penetrance was estimated through penetrance scores that were previously generated from large cohorts of patients and controls. These scores represent the probability risk to develop either schizophrenia or other developmental disorders (including developmental delay, autism spectrum disorder and congenital malformations). RESULTS:For both schizophrenia and developmental disorders, increased penetrance scores were associated with lower surface area in the cerebral cortex and lower intracranial volume. For both conditions, associations between CNV-penetrance scores and cortical surface area were strongest in regions of the occipital lobes, specifically in the cuneus and lingual gyrus. CONCLUSIONS:Our findings link global and regional cortical morphometric features with CNV-penetrance, providing new insights into neurobiological mechanisms of genetic risk for schizophrenia and other developmental disorders.

关键词： autism neuroimaging psychiatric disorders schizophrenia structural imaging

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NEW ERA SOFTWARE DEFINED NETWORK

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China Communications 2016年第3期13卷 I0002-I0003页

作者： Bi Jun Seungwon Shin Kai Chen network architecture research division institute for network sciences and cyberspace at tsinghua university asiafi (asia future internet forum) steering group china sdn commission infocom icnp mobihoc icccn organization committee or technical program committees at sigcomm icnp infocom co next sosr/hot sdn the school of computing kaist open networking foundation (onf) department of computer science and engineering hong kong university of science and technology

Software-Defined Networking(SDN)is now considered as one of the promising future networking technologies,and this trend can be clearly verified by observing activities of both industry and *** industry,we can easily n... 详细信息

关键词：网络公司软件定义 SDN 工业界学术界思科

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A demonstration of improved constraints on primordial gravitational waves with delensing

arXiv

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arXiv 2020年

作者： Ade, P.A.R. Ahmed, Z. Amiri, M. Anderson, A.J. Austermann, J.E. Avva, J.S. Barkats, D. Thakur, R. Basu Beall, J.A. Bender, A.N. Benson, B.A. Bianchini, F. Bischoff, C.A. Bleem, L.E. Bock, J.J. Boenish, H. Bullock, E. Buza, V. Carlstrom, J.E. Chang, C.L. Cheshire, J.R. Chiang, H.C. Chou, T.-L. Citron, R. Connors, J. Moran, C. Corbett Cornelison, J. Crawford, T.M. Crites, A.T. Crumrine, M. Cukierman, A. de Haan, T. Dierickx, M. Dobbs, M.A. Duband, L. Everett, W. Fatigoni, S. Filippini, J.P. Fliescher, S. Gallicchio, J. George, E.M. Germaine, T.St. Goeckner-Wald, N. Goldfinger, D.C. Grayson, J. Gupta, N. Hall, G. Halpern, M. Halverson, N.W. Harrison, S. Henderson, S. Henning, J.W. Hildebrandt, S.R. Hilton, G.C. Holder, G.P. Holzapfel, W.L. Hrubes, J.D. Huang, N. Hubmayr, J. Hui, H. Irwin, K.D. Kang, J. Karkare, K.S. Karpel, E. Kefeli, S. Kernasovskiy, S.A. Knox, L. Kovac, J.M. Kuo, C.L. Lau, K. Lee, A.T. Leitch, E.M. Li, D. Lowitz, A. Manzotti, A. McMahon, J.J. Megerian, K.G. Meyer, S.S. Millea, M. Mocanu, L.M. Moncelsi, L. Montgomery, J. Nadolski, A. Namikawa, T. Natoli, T. Netterfield, C.B. Nguyen, H.T. Nibarger, J.P. Noble, G. Novosad, V. O’Brient, R. Ogburn, R.W. Omori, Y. Padin, S. Palladino, S. Patil, S. Prouve, T. Pryke, C. Racine, B. Reichardt, C.L. Reintsema, C.D. Richter, S. Ruhl, J.E. Saliwanchik, B.R. Schaffer, K.K. Schillaci, A. Schmitt, B.L. Schwarz, R. Sheehy, C.D. Sievers, C. Smecher, G. Soliman, A. Stark, A.A. Steinbach, B. Sudiwala, R.V. Teply, G.P. Thompson, K.L. Tolan, J.E. Tucker, C. Turner, A.D. Umiltà, C. Veach, T. Vieira, J.D. Vieregg, A.G. Wandui, A. Wang, G. Weber, A.C. Whitehorn, N. Wiebe, D.V. Willmert, J. Wong, C.L. Wu, W.L. Kimmy Yang, H. Yefremenko, V. Yoon, K.W. Young, E. Yu, C. Zeng, L. Zhang, C. Cardiff University CardiffCF10 3XQ United Kingdom SLAC National Accelerator Laboratory 2575 Sand Hill Road Menlo ParkCA94025 United States Kavli Institute for Particle Astrophysics and Cosmology Stanford University 452 Lomita Mall StanfordCA94305 United States Department of Physics and Astronomy University of British Columbia VancouverBCV6T 1Z1 Canada Fermi National Accelerator Laboratory MS209 P.O. Box 500 BataviaIL60510 United States NIST Quantum Devices Group 325 Broadway Mailcode 817.03 BoulderCO80305 United States Department of Physics University of Colorado BoulderCO80309 United States Department of Physics University of California BerkeleyCA94720 United States Harvard-Smithsonian Center for Astrophysics 60 Garden Street CambridgeMA02138 United States California Institute of Technology MS 249-17 1216 E. California Blvd. PasadenaCA91125 United States High Energy Physics Division Argonne National Laboratory 9700 S. Cass Avenue ArgonneIL60439 United States Kavli Institute for Cosmological Physics University of Chicago 5640 South Ellis Avenue ChicagoIL60637 United States Department of Astronomy and Astrophysics University of Chicago 5640 South Ellis Avenue ChicagoIL60637 United States School of Physics University of Melbourne ParkvilleVIC3010 Australia Department of Physics University of Cincinnati CincinnatiOH45221 United States Jet Propulsion Laboratory PasadenaCA91109 United States Department of Physics Harvard University CambridgeMA02138 United States Minnesota Institute for Astrophysics University of Minnesota MinneapolisMN55455 United States Department of Physics University of Chicago 5640 South Ellis Avenue ChicagoIL60637 United States Enrico Fermi Institute University of Chicago 5640 South Ellis Avenue ChicagoIL60637 United States Department of Physics McGill University 3600 Rue University MontrealQCH3A 2T8 Canada School of Mathematics Statistics & Computer Science University of KwaZulu-Natal

We present a constraint on the tensor-to-scalar ratio, r, derived from measurements of cosmic microwave background (CMB) polarization B-modes with "delensing," whereby the uncertainty on r contributed by the sample variance of the gravitational lensing B-modes is reduced by cross-correlating against a lensing B-mode template. This template is constructed by combining an estimate of the polarized CMB with a tracer of the projected large-scale structure. The large-scale-structure tracer used is a map of the cosmic infrared background derived from Planck satellite data, while the polarized CMB map comes from a combination of South Pole Telescope, Bicep/Keck, and Planck data. We expand the Bicep/Keck likelihood analysis framework to accept a lensing template and apply it to the Bicep/Keck data set collected through 2014 using the same parametric foreground modelling as in the previous analysis. From simulations, we find that the uncertainty on r is reduced by ∼ 10%, from σ(r)= 0.024 to 0.022, which can be compared with a ∼ 26% reduction obtained when using a perfect lensing template or if there were zero lensing B-modes. Applying the technique to the real data, the constraint on r is improved from r0.05 Copyright © 2020, The Authors. All rights reserved.

关键词： Cosmology

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Proceedings of the 16th Annual UT-KBRIN Bioinformatics Summit 2016: bioinformatics

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BMC Bioinformatics 2017年第9期18卷 1-9页

作者： Eric C. Rouchka Juw Won Park Julia H. Chariker David A. Tieri Shreedharkumar Rajurkar Vikas Singh Nishchal K. Verma Yan Cui Mark Farman Bradford Condon Jolanta Jaromczyk Neil Moore Jerzy Jaromczyk Daniel Harris Patrick Calie Eun Kyong Shin Robert L. Davis Arash Shaban-Nejad Joshua M. Mitchell Hunter N. B. Moseley Robert M. Flight Qing Jun Wang Richard M. Higashi Teresa W-M Fan Andrew N. Lane Liangqun Lu Bernie J Daigle Jr. Xi Chen Andrey Smelter Jerzy W. Jaromczyk Bailey K. Phan Nathaniel J. Serpico Ethan G. Toney Li Chen Caroline E. Melton Jennifer R. Mandel Bernie J. Daigle Jr. Hao Chen Kazi I. Zaman Ramin Homayouni Patrick J. Trainor Andrew P. DeFilippis Samantha M. Carlisle Shesh N. Rai Department of Computer Engineering and Computer Science University of Louisville Duthie Center for Engineering Louisville KY 40292 USA Kentucky Biomedical Research Infrastructure (KBRIN) Bioinformatics Core 522 East Gray Street Louisville KY 40292 USA Department of Psychological and Brain Sciences University of Louisville Louisville KY 40292 USA Department of Anatomical Sciences and Neurobiology University of Louisville Louisville KY 40292 USA Department of Electrical Engineering IIT Kanpur India Department of Microbiology Immunology and Biochemistry University of Tennessee Health Science Center Memphis TN 38103 USA Center for Integrative and Translational Genomics University of Tennessee Health Science Center Memphis TN 38103 USA Department of Plant Pathology University of Kentucky Lexington KY 40546 USA UK Healthcare Genomics University of Kentucky Lexington KY 40536 USA Department of Entomology & Plant Pathology University of Tennessee Knoxville TN 37996 USA Department of Forestry University of Kentucky Lexington KY 40506 USA Department of Computer Science University of Kentucky Lexington KY 40506 USA Department of Computer Science University of Kentucky Lexington KY 40508 USA Department of Biological Sciences Eastern Kentucky University Richmond KY 40475 USA University of Tennessee Health Science Center – Oak-Ridge National Lab (UTHSC-ORNL) Center for Biomedical Informatics Department of Pediatrics Memphis TN 38103 USA Department of Molecular & Cellular Biochemistry University of Kentucky Lexington KY 40536 USA Markey Cancer Center University of Kentucky Lexington KY 40536 USA Center for Environmental and Systems Biochemistry University of Kentucky Lexington KY 40536 USA Institute for Biomedical Informatics University of Kentucky Lexington KY 40536 USA Department of Molecular and Cellular Biochemistry University of Kentucky Lexington KY 40536 USA Department of Statistics University of Kentucky Louisville KY

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Link prediction of LOD by multiple label propagation algorithm considering semantic distance

Link prediction of LOD by multiple label propagation algorit...

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IEEE Global Conference on Consumer Electronics (GCCE)

作者： Toshitaka Maki Kazuki Takahashi Akihiro Yamaguchi Toshihiko Wakahara Toru Kobayashi Akihisa Kodate Noboru Sonehara Intelligent Information System Engineering Fukuoka Institute of Technology FIT Fukuoka Japan Communication & Information Networking Fukuoka Institute of Technology FIT Fukuoka Japan Information and Systems Engineering Fukuoka Institute of Technology FIT Fukuoka Japan Computer and Information Sciences Program Nagasaki University Nagasaki Univ. Nagasaki Japan Department of Computer Science Tsuda College Tsuda Tokyo Japan Information and Society Research Division National Institute of Informatics NII Tokyo Japan

ISBN: (纸本)9781509023349

This paper presents link prediction of Linked Open Data (LOD) by Multiple Label Propagation Algorithm (MLPA). The current LOD do not have enough links. Therefore, the LOD have not been able to exert so much semantic characteristics. In order to solve this problem, we proposed the MLPA considering semantic distance. The MLPA can expand potential links of each data contained in the LOD. The experimental result of the MLPA shows the good performance and the validity of this algorithm is confirmed.

关键词： Prediction algorithms Semantics Metadata Algorithm design and analysis Conferences Consumer electronics Resource description framework

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Performance Comparison of Binary Modulation Schemes for Visible Light Communication

Performance Comparison of Binary Modulation Schemes for Visi...

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IEEE International Conference on Communications

作者： Ki-Hong Park Changping Li Mohamed-Slim Alouini Electrical Engineering Program Computer Electrical and Mathematical Sciences and Engineering Division King Abdullah University of Science and Technology

ISBN: (纸本)9781467364300

In this paper, we investigate the power spectral density of several binary modulation schemes including variable on-off keying, variable pulse position modulation, and pulse dual slope modulation which were previously proposed for visible light communication with dimming control. We also propose a novel slope-based modulation called differential chip slope modulation (DCSM) and develop a chip-based hard-decision receiver to demodulate the resulting signal, detect the chip sequence, and decode the input bit sequence. We show that the DCSM scheme can exploit spectrum density more efficiently than the reference schemes while providing an error rate performance comparable to them.

关键词： Modulation Correlation Bit error rate Optical receivers Optical pulses Optical fiber networks

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Abstracts and Workshops 7th National Spinal Cord Injury Conference November 9-11, 2017 Fallsview Casino Resort Niagara Falls, Ontario, Canada Abstracts

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JOURNAL OF SPINAL CORD MEDICINE 2017年第6期40卷 813-869页

作者： [Anonymous] a NET Team Toronto Rehabilitation Institute - University Health Network Toronto ON Canada. fo Neural Engineering and Therapeutic Team Lyndhurst Centre Toronto Rehabilitation Institute - University Health Network Toronto ON Canada. c Rick Hansen Institute Vancouver BC Canada. ev Rick Hansen Institute Vancouver BC Canada. fc Stan Cassidy Hospital University of New Brunswick Fredericton NB Canada. fd Dalhousie University Halifax NS Canada. e University of Saskatchewan Saskatoon SK Canada. aa University of Calgary Calgary AB Canada. y Dalhousie University Halifax NS Canada. fa Health Sciences Centre Winnipeg MB Canada. fb University of Manitoba Winnipeg MB Canada. h University of Alberta Edmonton AB Canada. i Universite Laval Quebe c City QC Canada. bd Rick Hansen Institute Vancouver BC Canada. fz Clinician Investigator Lyndhurst Centre Toronto Rehabilitation Institute University Health Network and Assistant Professor Department of Medicine Division of Physical Medicine and Rehabilitation University of Toronto. v University of Toront o Toronto ON Canada. n Institute of Biomaterials and Biomedical Engineering University of Toronto Toronto ON Canada. o Toronto Rehabilitation Institute - University Health Network Toronto ON Canada. ga Clinical Scientist Lyndhurst Centre Toronto Rehabilitation Institute University Health Network and Assistant Professor Department of Physical Therapy University of Toronto. dx Department of Electrical and Computer Engineering University of Toronto Toronto ON Canada. fm Lawson Health Research Institute London ON Canada. r Parkwood Institute London ON Canada. bi Parkwood Institute London ON Canada. s University of British Columbia Vancouver BC Canada. t Simon Fraser University Burnaby BC Canada. u DeltaQuest Foundation Concord MA USA. z Institut national d'excellence en santé et en services sociaux (INESSS) Quebec City QC Ca

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26th Annual Computational Neuroscience Meeting (CNS*2017) of the Organization for Computational Neuroscience Antwerp, Belgium, July 15-20, 2017

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BMC NEUROSCIENCE 2017年第SUPPL 1期18卷 59-59页

作者： [Anonymous] Indiana University Purdue University Indianapolis Indianapolis IN 46032 USA Stark Neurosciences Research Institute Indiana University School of Medicine Indianapolis IN 46032 USA Department of Mathematics East Carolina University Greenville NC 27858 USA Jülich Supercomputing Centre Forschungszentrum Jülich 52425 Jülich Germany Future Systems Swiss National Supercomputing Centre 8092 Zurich Switzerland User Engagement and Support Swiss National Supercomputing Centre 6900 Lugano Switzerland Institut de Neurosciences des Systèmes Aix Marseille Univ 13005 Marseille France Simulation Lab Neuroscience Forschungszentrum Jülich Jülich Germany Department of Experimental Psychology Ghent University 9000 Ghent Belgium Donders Center for Cognitive Neuroimaging Radboud University 6525HR Nijmegen The Netherlands Department of Electrical Computer and Energy Engineering University of Colorado Boulder CO 80309 USA Department of Neurosurgery Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Neurology Johns Hopkins School of Medicine Baltimore MD 21287 USA Department of Otolaryngology Johns Hopkins School of Medicine Baltimore MD 21287 USA INSERM U968 Paris France Sorbonne Universités UPMC University Paris 06 UMR_S 968 Institut de la Vision Paris France CNRS UMR_7210 Paris France Department of Computer Architecture and Technology University of Granada (CITIC) Granada Spain Sorbonne Universités UPMC Univ Paris 06 INSERM CNRS Institut de la Vision Paris France Department of Adaptive Machine Systems Osaka University Osaka Japan Department of Computer Science University of Cergy-Pontoise Cergy-Pontoise France Department of Physics and Astronomy College of Charleston Charleston SC 29424 USA School of Physics Faculty of Science University of Sydney Sydney NSW 2006 Australia Center of Excellence for Integrative Brain Function Australian Research Council Sydney Australia Max Planck Institute for Human Cognitive and Brain Sciences Saxony Lei

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Back Cover: H2S Sensors: Fumarate-Based fcu-MOF Thin Film Grown on a Capacitive Interdigitated Electrode (Angew. Chem. Int. Ed. 51/2016)

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Angewandte Chemie International Edition 2016年第51期55卷

作者： Dr. Omar Yassine Dr. Osama Shekhah Ayalew H. Assen Dr. Youssef Belmabkhout Prof. Khaled N. Salama Prof. Mohamed Eddaoudi Sensors Lab Electrical Engineering Program Division of Computer Electrical and Mathematical Sciences and Engineering King Abdullah University of Science and Technology Thuwal 23955-6900 Saudi Arabia Functional Materials Design Discovery and Development research group (FMD3) Advanced Membranes & Porous Materials Center Division of Physical Sciences and Engineering King Abdullah University of Science and Technology Thuwal 23955-6900 Saudi Arabia

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H2S Sensors: Fumarate‐Based fcu‐MOF Thin Film Grown on a Capacitive Interdigitated Electrode

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Angewandte Chemie 2016年第51期128卷

作者： Omar Yassine Osama Shekhah Ayalew H. Assen Youssef Belmabkhout Khaled N. Salama Mohamed Eddaoudi Sensors Lab Electrical Engineering Program Division of Computer Electrical and Mathematical Sciences and Engineering King Abdullah University of Science and Technology Thuwal 23955-6900 Saudi Arabia Functional Materials Design Discovery and Development research group (FMD3) Advanced Membranes & Porous Materials Center Division of Physical Sciences and Engineering King Abdullah University of Science and Technology Thuwal 23955-6900 Saudi Arabia

Herein we report the fabrication of an advanced sensor for the detection of hydrogen sulfide (H 2 S) at room temperature, using thin films of rare‐earth metal (RE)‐based metal–organic framework (MOF) with underlying fcu topology. This unique MOF‐based sensor is made via the in situ growth of fumarate‐based fcu ‐MOF (fum‐ fcu ‐MOF) thin film on a capacitive interdigitated electrode. The sensor showed a remarkable detection sensitivity for H 2 S at concentrations down to 100 ppb, with the lower detection limit around 5 ppb. The fum‐ fcu ‐MOF sensor exhibits a highly desirable detection selectivity towards H 2 S vs. CH 4 , NO 2 , H 2 , and C 7 H 8 as well as an outstanding H 2 S sensing stability as compared to other reported MOFs.

关键词： H2S Interdigital-Elektroden Metall-organische Gerüstverbindungen Seltenerdmetalle Sensoren

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