检索结果-内蒙古大学图书馆

Stroke genetics informs drug discovery and risk prediction across ancestries (vol 611, pg 115, 2022)

NATURE 2022年第7938期612卷 E7-E7页

作者： Mishra, Aniket Malik, Rainer Hachiya, Tsuyoshi Jurgenson, Tuuli Namba, Shinichi Posner, Daniel C. Kamanu, Frederick K. Koido, Masaru Le Grand, Quentin Shi, Mingyang He, Yunye Georgakis, Marios K. Caro, Ilana Krebs, Kristi Liaw, Yi-Ching Vaura, Felix C. Lin, Kuang Winsvold, Bendik Slagsvold Srinivasasainagendra, Vinodh Parodi, Livia Bae, Hee-Joon Chauhan, Ganesh Chong, Michael R. Tomppo, Liisa Akinyemi, Rufus Roshchupkin, Gennady V. Habib, Naomi Jee, Yon Ho Thomassen, Jesper Qvist Abedi, Vida Carcel-Marquez, Jara Nygaard, Marianne Leonard, Hampton L. Yang, Chaojie Yonova-Doing, Ekaterina Knol, Maria J. Lewis, Adam J. Judy, Renae L. Ago, Tetsuro Amouyel, Philippe Armstrong, Nicole D. Bakker, Mark K. Bartz, Traci M. Bennett, David A. Bis, Joshua C. Bordes, Constance Borte, Sigrid Cain, Anael Ridker, Paul M. Cho, Kelly Chen, Zhengming Cruchaga, Carlos Cole, John W. de Jager, Phil L. de Cid, Rafael Endres, Matthias Ferreira, Leslie E. Geerlings, Mirjam I. Gasca, Natalie C. Gudnason, Vilmundur Hata, Jun He, Jing Heath, Alicia K. Ho, Yuk-Lam Havulinna, Aki S. Hopewell, Jemma C. Hyacinth, I. Hyacinth Inouye, Michael Jacob, Mina A. Jeon, Christina E. Jern, Christina Kamouchi, Masahiro Keene, Keith L. Kitazono, Takanari Kittner, Steven J. Konuma, Takahiro Kumar, Amit Lacaze, Paul Launer, Lenore J. Lee, Keon-Joo Lepik, Kaido Li, Jiang Li, Liming Manichaikul, Ani Markus, Hugh S. Marston, Nicholas A. Meitinger, Thomas Mitchell, Braxton D. Montellano, Felipe A. Morisaki, Takayuki Mosley, Thomas H. Nalls, Mike A. Nordestgaard, Borge G. O'Donnell, Martin J. Okada, Yukinori Onland-Moret, N. Charlotte Ovbiagele, Bruce Peters, Annette Psaty, Bruce M. Rich, Stephen S. Rosand, Jonathan Sabatine, Marc S. Sacco, Ralph L. Saleheen, Danish Sandset, Else Charlotte Salomaa, Veikko Sargurupremraj, Muralidharan Sasaki, Makoto Satizabal, Claudia L. Schmidt, Carsten O. Shimizu, Atsushi Smith, Nicholas L. Sloane, Kelly L. Sutoh, Yoichi Sun, Yan V. Tanno, Kozo Tiedt, Steffen Tatlisumak, Turgut Torres-Aguila, Nuria P. Tiwari, Hemant K. Tregouet, Bordeaux Population Health Research Center University of Bordeaux Inserm UMR 1219 Bordeaux France Department of Public Health Bordeaux University Hospital Bordeaux France Department of Neurology Memory Clinic Bordeaux University Hospital Bordeaux France Department of Neurology Institute for Neurodegenerative Diseases CHU de Bordeaux Bordeaux France Institute for Stroke and Dementia Research (ISD) University Hospital LMU Munich Munich Germany Center for Genomic Medicine Massachusetts General Hospital Boston MA USA Program in Medical and Population Genetics Broad Institute of Harvard and the Massachusetts Institute of Technology Cambridge MA USA Munich Cluster for Systems Neurology Munich Germany German Center for Neurodegenerative Diseases (DZNE) Munich Germany Iwate Tohoku Medical Megabank Organization Iwate Medical University Iwate Japan Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia Institute of Mathematics and Statistics University of Tartu Tartu Estonia Department of Computational Biology University of Lausanne Lausanne Switzerland Swiss Institute of Bioinformatics Lausanne Switzerland University Center for Primary Care and Public Health Lausanne Switzerland Department of Statistical Genetics Osaka University Graduate School of Medicine Suita Japan Department of Genome Informatics Graduate School of Medicine The University of Tokyo Tokyo Japan Laboratory for Systems Genetics RIKEN Center for Integrative Medical Sciences Yokohama Japan Laboratory of Statistical Immunology Immunology Frontier Research Center (WPI-IFReC) Osaka University Suita Japan Integrated Frontier Research for Medical Science Division Institute for Open and Transdisciplinary Research Initiatives Osaka University Suita Japan Center for Infectious Disease Education and Research (CiDER) Osaka University Suita Japan Massachusetts Veterans Epidemiology Research and Information Center (MAVERIC) VA Boston Healthcare System Boston MA USA TIMI S

来源：评论

学校读者我要写书评

暂无评论

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

引用

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

来源：评论

学校读者我要写书评

暂无评论

How well do experience curves predict technological progress? A method for making distributional forecasts∗

arXiv

引用

arXiv 2017年

作者： Lafond, François Bailey, Aimee Gotway Bakker, Jan David Rebois, Dylan Zadourian, Rubina McSharry, Patrick Farmer, J. Doyne Institute for New Economic Thinking Oxford Martin School Smith School for Enterprise and the Environment University of Oxford London Institute for Mathematical Sciences U.S. Department of Energy Department of Economics University of Oxford Mathematical Institute University of Oxford Max Planck Institute for the Physics of Complex Systems Germany Carnegie Mellon University Africa Rwanda African Center of Excellence in Data Science University of Rwanda Oxford Man Institute of Quantitative Finance University of Oxford Computer Science Department University of Oxford Santa Fe Institute United States

Experience curves are widely used to predict the cost benefits of increasing the deployment of a technology. But how good are such forecasts? Can one predict their accuracy a priori? In this paper we answer these questions by developing a method to make distributional forecasts for experience curves. We test our method using a dataset with proxies for cost and experience for 51 products and technologies and show that it works reasonably well. The framework that we develop helps clarify why the experience curve method often gives similar results to simply assuming that costs decrease exponentially. To illustrate our method we make a distributional forecast for prices of solar photovoltaic modules. Copyright © 2017, The Authors. All rights reserved.

关键词： Forecasting

来源：评论

学校读者我要写书评

暂无评论

Author Correction: Common variants in Alzheimer's disease and risk stratification by polygenic risk scores

引用

Nature communications 2023年第1期14卷 716页

作者： Itziar de Rojas Sonia Moreno-Grau Niccolo Tesi Benjamin Grenier-Boley Victor Andrade Iris E Jansen Nancy L Pedersen Najada Stringa Anna Zettergren Isabel Hernández Laura Montrreal Carmen Antúnez Anna Antonell Rick M Tankard Joshua C Bis Rebecca Sims Céline Bellenguez Inés Quintela Antonio González-Perez Miguel Calero Emilio Franco-Macías Juan Macías Rafael Blesa Laura Cervera-Carles Manuel Menéndez-González Ana Frank-García Jose Luís Royo Fermin Moreno Raquel Huerto Vilas Miquel Baquero Mónica Diez-Fairen Carmen Lage Sebastián García-Madrona Pablo García-González Emilio Alarcón-Martín Sergi Valero Oscar Sotolongo-Grau Abbe Ullgren Adam C Naj Afina W Lemstra Alba Benaque Alba Pérez-Cordón Alberto Benussi Alberto Rábano Alessandro Padovani Alessio Squassina Alexandre de Mendonça Alfonso Arias Pastor Almar A L Kok Alun Meggy Ana Belén Pastor Ana Espinosa Anaïs Corma-Gómez Angel Martín Montes Ángela Sanabria Anita L DeStefano Anja Schneider Annakaisa Haapasalo Anne Kinhult Ståhlbom Anne Tybjærg-Hansen Annette M Hartmann Annika Spottke Arturo Corbatón-Anchuelo Arvid Rongve Barbara Borroni Beatrice Arosio Benedetta Nacmias Børge G Nordestgaard Brian W Kunkle Camille Charbonnier Carla Abdelnour Carlo Masullo Carmen Martínez Rodríguez Carmen Muñoz-Fernandez Carole Dufouil Caroline Graff Catarina B Ferreira Caterina Chillotti Chandra A Reynolds Chiara Fenoglio Christine Van Broeckhoven Christopher Clark Claudia Pisanu Claudia L Satizabal Clive Holmes Dolores Buiza-Rueda Dag Aarsland Dan Rujescu Daniel Alcolea Daniela Galimberti David Wallon Davide Seripa Edna Grünblatt Efthimios Dardiotis Emrah Düzel Elio Scarpini Elisa Conti Elisa Rubino Ellen Gelpi Eloy Rodriguez-Rodriguez Emmanuelle Duron Eric Boerwinkle Evelyn Ferri Fabrizio Tagliavini Fahri Küçükali Florence Pasquier Florentino Sanchez-Garcia Francesca Mangialasche Frank Jessen Gaël Nicolas Geir Selbæk Gemma Ortega Geneviève Chêne Georgios Hadjigeorgiou Giacomina Rossi Gianfranco Spalletta Giorgio Giaccone Giulia Grande Giuliano Binetti Goran Papenberg Harald Hampel Research Center and Memory clinic Fundació ACE Institut Català de Neurociències Aplicades Universitat Internacional de Catalunya Barcelona Spain. CIBERNED Network Center for Biomedical Research in Neurodegenerative Diseases National Institute of Health Carlos III Madrid Spain. Alzheimer Center Amsterdam Department of Neurology Amsterdam Neuroscience Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Section Genomics of Neurodegenerative Diseases and Aging Department of Clinical Genetics Vrije Universiteit Amsterdam Amsterdam UMC Amsterdam The Netherlands. Delft Bioinformatics Lab Delft Univeristy of Technology Delft The Netherlands. Univ. Lille Inserm Institut Pasteur de Lille CHU Lille U1167-Labex DISTALZ-RID-AGE-Risk Factors and Molecular Determinants of Aging-Related Diseases Lille France. Division of Neurogenetics and Molecular Psychiatry Department of Psychiatry and Psychotherapy University of Cologne Medical Faculty Cologne Germany. Department of Neurodegenerative diseases and Geriatric Psychiatry University Clinic Bonn Bonn Germany. Department of Complex Trait Genetics Center for Neurogenomics and Cognitive Research Amsterdam Neuroscience VU University Amsterdam The Netherlands. Department of Medical Epidemiology and Biostatistics Karolinska Institutet Stockholm Sweden. Amsterdam UMC-Vrije Universiteit Amsterdam Department of Epidemiology and Data Science Amsterdam Public Health Research Institute Amsterdam The Netherlands. Neuropsychiatric Epidemiology Unit Department of Psychiatry and Neurochemistry Institute of Neuroscience and Physiology Sahlgrenska Academy Centre for Ageing and Health (AgeCap) University of Gothenburg Gothenburg Sweden. Unidad de Demencias Hospital Clínico Universitario Virgen de la Arrixaca Murcia Spain. Alzheimer's disease and other cognitive disorders unit. Service of Neurology Hospital Clínic of Barcelona. Institut d'Investigacions Biomèdiques August Pi i Sunyer University of Barcelona Barcelona Spain

来源：评论

学校读者我要写书评

暂无评论

Publisher Correction: Sex-dimorphic genetic effects and novel loci for fasting glucose and insulin variability

引用

Nature communications 2021年第1期12卷 995页

作者： Vasiliki Lagou Reedik Mägi Jouke- Jan Hottenga Harald Grallert John R B Perry Nabila Bouatia-Naji Letizia Marullo Denis Rybin Rick Jansen Josine L Min Antigone S Dimas Anna Ulrich Liudmila Zudina Jesper R Gådin Longda Jiang Alessia Faggian Amélie Bonnefond Joao Fadista Maria G Stathopoulou Aaron Isaacs Sara M Willems Pau Navarro Toshiko Tanaka Anne U Jackson May E Montasser Jeff R O'Connell Lawrence F Bielak Rebecca J Webster Richa Saxena Jeanette M Stafford Beate St Pourcain Nicholas J Timpson Perttu Salo So-Youn Shin Najaf Amin Albert V Smith Guo Li Niek Verweij Anuj Goel Ian Ford Paul C D Johnson Toby Johnson Karen Kapur Gudmar Thorleifsson Rona J Strawbridge Laura J Rasmussen-Torvik Tõnu Esko Evelin Mihailov Tove Fall Ross M Fraser Anubha Mahajan Stavroula Kanoni Vilmantas Giedraitis Marcus E Kleber Günther Silbernagel Julia Meyer Martina Müller-Nurasyid Andrea Ganna Antti-Pekka Sarin Loic Yengo Dmitry Shungin Jian'an Luan Momoko Horikoshi Ping An Serena Sanna Yvonne Boettcher N William Rayner Ilja M Nolte Tatijana Zemunik Erik van Iperen Peter Kovacs Nicholas D Hastie Sarah H Wild Stela McLachlan Susan Campbell Ozren Polasek Olga Carlson Josephine Egan Wieland Kiess Gonneke Willemsen Johanna Kuusisto Markku Laakso Maria Dimitriou Andrew A Hicks Rainer Rauramaa Stefania Bandinelli Barbara Thorand Yongmei Liu Iva Miljkovic Lars Lind Alex Doney Markus Perola Aroon Hingorani Mika Kivimaki Meena Kumari Amanda J Bennett Christopher J Groves Christian Herder Heikki A Koistinen Leena Kinnunen Ulf de Faire Stephan J L Bakker Matti Uusitupa Colin N A Palmer J Wouter Jukema Naveed Sattar Anneli Pouta Harold Snieder Eric Boerwinkle James S Pankow Patrik K Magnusson Ulrika Krus Chiara Scapoli Eco J C N de Geus Matthias Blüher Bruce H R Wolffenbuttel Michael A Province Goncalo R Abecasis James B Meigs G Kees Hovingh Jaana Lindström James F Wilson Alan F Wright George V Dedoussis Stefan R Bornstein Peter E H Schwarz Anke Tönjes Bernhard R Winkelmann Bernhard O Boehm Winfried März Andres Metspalu Jackie F Price Panos Delouk Wellcome Centre for Human Genetics University of Oxford Oxford UK. Department of Microbiology and Immunology Laboratory of Adaptive Immunity KU Leuven Leuven Belgium. VIB-KU Leuven Center for Brain and Disease Research Leuven Belgium. Estonian Genome Centre Institute of Genomics University of Tartu Tartu Estonia. Department of Biological Psychology Vrije Universiteit Amsterdam The Netherlands. Amsterdam Public Health Research Institute VU University medical center Amsterdam The Netherlands. Research Unit of Molecular Epidemiology Institute of Epidemiology Helmholtz Zentrum München Research Center for Environmental Health Neuherberg Germany. German Center for Diabetes Research (DZD München-Neuherberg Germany. MRC Epidemiology Unit University of Cambridge School of Clinical Medicine Cambridge UK. University of Lille Nord de France Lille France. CNRS UMR8199 Institut Pasteur de Lille Lille France. INSERM U970 Paris Cardiovascular Research Center PARCC 75006 Paris France. Department of Life Sciences and Biotechnology University of Ferrara Ferrara Italy. Boston University Data Coordinating Center Boston MA USA. Department of Psychiatry VU University Medical Center Amsterdam The Netherlands. MRC Integrative Epidemiology Unit University of Bristol Bristol UK. Bristol Medical School University of Bristol Bristol UK. Institute for Bioinnovation Biomedical Sciences Research Center Al. Fleming Vari Greece. Department of Medicine Imperial College London London UK. Cardiovascular Medicine Unit Center for Molecular Medicine Department of Medicine Karolinska Institutet Stockholm Karolinska University Hospital Solna Sweden. Institute for Molecular Bioscience The University of Queensland Brisbane QLD 4072 Australia. Department of Epidemiology Research Statens Serum Institut Copenhagen Denmark. Université de Lorraine IGE-PCV F-54000 Nancy France. Genetic Epidemiology Unit Department of Epidemiology Erasmus Medical Center Rotterdam the Netherlands. CAR

来源：评论

学校读者我要写书评

暂无评论

26th Annual Computational Neuroscience Meeting (CNS*2017): Part 3 Antwerp, Belgium. 15-20 July 2017 Abstracts

引用

BMC NEUROscience 2017年第SUPPL 1期18卷 95-176页

作者： [Anonymous] Department of Neuroscience Yale University New Haven CT 06520 USA Department Physiology & Pharmacology SUNY Downstate Brooklyn NY 11203 USA NYU School of Engineering 6 MetroTech Center Brooklyn NY 11201 USA Departament de Matemàtica Aplicada Universitat Politècnica de Catalunya Barcelona 08028 Spain Institut de Neurobiologie de la Méditerrannée (INMED) INSERM UMR901 Aix-Marseille Univ Marseille France Center of Neural Science New York University New York NY USA Aix-Marseille Univ INSERM INS Inst Neurosci Syst Marseille France Laboratoire de Physique Théorique et Modélisation CNRS UMR 8089 Université de Cergy-Pontoise 95300 Cergy-Pontoise Cedex France Department of Mathematics and Computer Science ENSAT Abdelmalek Essaadi’s University Tangier Morocco Laboratory of Natural Computation Department of Information and Electrical Engineering and Applied Mathematics University of Salerno 84084 Fisciano SA Italy Department of Medicine University of Salerno 84083 Lancusi SA Italy Dipartimento di Fisica Università degli Studi Aldo Moro Bari and INFN Sezione Di Bari Italy Data Analysis Department Ghent University Ghent Belgium Coma Science Group University of Liège Liège Belgium Cruces Hospital and Ikerbasque Research Center Bilbao Spain BIOtech Department of Industrial Engineering University of Trento and IRCS-PAT FBK 38010 Trento Italy Department of Data Analysis Ghent University Ghent 9000 Belgium The Wellcome Trust Centre for Neuroimaging University College London London WC1N 3BG UK Department of Electronic Engineering NED University of Engineering and Technology Karachi Pakistan Blue Brain Project École Polytechnique Fédérale de Lausanne Lausanne Switzerland Departement of Mathematics Swansea University Swansea Wales UK Laboratory for Topology and Neuroscience at the Brain Mind Institute École polytechnique fédérale de Lausanne Lausanne Switzerland Institute of Mathematics University of Aberdeen Aberdeen Scotland UK Department of Integrativ

来源：评论

学校读者我要写书评

暂无评论

Sequence data and association statistics from 12,940 type 2 diabetes cases and controls

引用

Scientific data 2017年第1期4卷 170179页

作者： Jason Flannick Christian Fuchsberger Anubha Mahajan Tanya M Teslovich Vineeta Agarwala Kyle J Gaulton Lizz Caulkins Ryan Koesterer Clement Ma Loukas Moutsianas Davis J McCarthy Manuel A Rivas John R B Perry Xueling Sim Thomas W Blackwell Neil R Robertson N William Rayner Pablo Cingolani Adam E Locke Juan Fernandez Tajes Heather M Highland Josee Dupuis Peter S Chines Cecilia M Lindgren Christopher Hartl Anne U Jackson Han Chen Jeroen R Huyghe Martijn van de Bunt Richard D Pearson Ashish Kumar Martina Müller-Nurasyid Niels Grarup Heather M Stringham Eric R Gamazon Jaehoon Lee Yuhui Chen Robert A Scott Jennifer E Below Peng Chen Jinyan Huang Min Jin Go Michael L Stitzel Dorota Pasko Stephen C J Parker Tibor V Varga Todd Green Nicola L Beer Aaron G Day-Williams Teresa Ferreira Tasha Fingerlin Momoko Horikoshi Cheng Hu Iksoo Huh Mohammad Kamran Ikram Bong-Jo Kim Yongkang Kim Young Jin Kim Min-Seok Kwon Juyoung Lee Selyeong Lee Keng-Han Lin Taylor J Maxwell Yoshihiko Nagai Xu Wang Ryan P Welch Joon Yoon Weihua Zhang Nir Barzilai Benjamin F Voight Bok-Ghee Han Christopher P Jenkinson Teemu Kuulasmaa Johanna Kuusisto Alisa Manning Maggie C Y Ng Nicholette D Palmer Beverley Balkau Alena Stančáková Hanna E Abboud Heiner Boeing Vilmantas Giedraitis Dorairaj Prabhakaran Omri Gottesman James Scott Jason Carey Phoenix Kwan George Grant Joshua D Smith Benjamin M Neale Shaun Purcell Adam S Butterworth Joanna M M Howson Heung Man Lee Yingchang Lu Soo-Heon Kwak Wei Zhao John Danesh Vincent K L Lam Kyong Soo Park Danish Saleheen Wing Yee So Claudia H T Tam Uzma Afzal David Aguilar Rector Arya Tin Aung Edmund Chan Carmen Navarro Ching-Yu Cheng Domenico Palli Adolfo Correa Joanne E Curran Dennis Rybin Vidya S Farook Sharon P Fowler Barry I Freedman Michael Griswold Daniel Esten Hale Pamela J Hicks Chiea-Chuen Khor Satish Kumar Benjamin Lehne Dorothée Thuillier Wei Yen Lim Jianjun Liu Marie Loh Solomon K Musani Sobha Puppala William R Scott Loïc Yengo Sian-Tsung Tan Herman A Taylor Farook Thameem Gregory Wilson Tien Yin Wong Pål Rasmu Department of Molecular Biology Massachusetts General Hospital Boston Massachusetts USA. Program in Medical and Population Genetics Broad Institute Cambridge Massachusetts USA. Department of Biostatistics and Center for Statistical Genetics University of Michigan Ann Arbor Michigan USA. Wellcome Trust Centre for Human Genetics Nuffield Department of Medicine University of Oxford Oxford UK. Harvard-MIT Division of Health Sciences and Technology Massachusetts Institute of Technology Cambridge Massachusetts USA. Department of Statistics University of Oxford Oxford UK. Genetics of Complex Traits University of Exeter Medical School University of Exeter Exeter UK. MRC Epidemiology Unit Institute of Metabolic Science University of Cambridge Cambridge UK. Department of Twin Research and Genetic Epidemiology King's College London London UK. Oxford Centre for Diabetes Endocrinology and Metabolism Radcliffe Department of Medicine University of Oxford Oxford UK. Department of Human Genetics Wellcome Trust Sanger Institute Hinxton Cambridgeshire UK. School of Computer Science McGill University Montreal Quebec Canada. McGill University and Génome Québec Innovation Centre Montreal Quebec Canada. Human Genetics Center The University of Texas Graduate School of Biomedical Sciences at Houston The University of Texas Health Science Center at Houston Houston Texas USA. Department of Biostatistics Boston University School of Public Health Boston Massachusetts USA. National Heart Lung and Blood Institute's Framingham Heart Study Framingham Massachusetts USA. Medical Genomics and Metabolic Genetics Branch National Human Genome Research Institute National Institutes of Health Bethesda Maryland USA. Department of Biostatistics Harvard School of Public Health Boston Massachusetts USA. Chronic Disease Epidemiology Swiss Tropical and Public Health Institute University of Basel Basel Switzerland. Institute of Genetic Epidemiology Helmholtz Zentrum München German R

To investigate the genetic basis of type 2 diabetes (T2D) to high resolution, the GoT2D and T2D-GENES consortia catalogued variation from whole-genome sequencing of 2,657 European individuals and exome sequencing of 12,940 individuals of multiple ancestries. Over 27M SNPs, indels, and structural variants were identified, including 99% of low-frequency (minor allele frequency [MAF] 0.1-5%) non-coding variants in the whole-genome sequenced individuals and 99.7% of low-frequency coding variants in the whole-exome sequenced individuals. Each variant was tested for association with T2D in the sequenced individuals, and, to increase power, most were tested in larger numbers of individuals (>80% of low-frequency coding variants in ~82 K Europeans via the exome chip, and ~90% of low-frequency non-coding variants in ~44 K Europeans via genotype imputation). The variants, genotypes, and association statistics from these analyses provide the largest reference to date of human genetic information relevant to T2D, for use in activities such as T2D-focused genotype imputation, functional characterization of variants or genes, and other novel analyses to detect associations between sequence variation and T2D.

关键词：

来源：评论

学校读者我要写书评

暂无评论

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案：

请选择收藏分类：

通借通还

建议与咨询 留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

时间限定

文献类型

馆藏选择

核心期刊

语言

文献类型

帮助

文字说明：

检索规则说明：

检索范例：

分类表

所选分类

限定检索结果

文献类型

馆藏范围

日期分布

学科分类号

主题

机构

作者

语言

请选择保存的检索档案： 新增检索档案 确定 取消

请选择收藏分类： 新增自定义分类 确定 取消

通借通还

建议与咨询留下您的常用邮箱和电话号码，以便我们向您反馈解决方案和替代方法

请选择保存的检索档案：

请选择收藏分类：