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63 p, 25.7 MB |
A draft human pangenome reference
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Liao, Wen-Wei (Washington University School of Medicine) ;
Asri, Mobin (University of California) ;
Ebler, Jana (Heinrich Heine University) ;
Doerr, Daniel (Heinrich Heine University) ;
Haukness, Marina (University of California) ;
Hickey, Glenn (University of California) ;
Lu, Shuangjia (Yale University School of Medicine) ;
Lucas, Julian K. (University of California) ;
Monlong, Jean (University of California) ;
Abel, Haley J. (Washington University School of Medicine) ;
Buonaiuto, Silvia (Consiglio Nazionale delle Ricerche. Istituto di Genetica e Biofisica) ;
Chang, Xian H. (University of California) ;
Cheng, Haoyu (Harvard Medical School) ;
Chu, Justin (Dana-Farber Cancer Institute (Boston, Estats Units d'Amèrica)) ;
Colonna, Vincenza (University of Tennessee Health Science Center) ;
Eizenga, Jordan (University of California) ;
Feng, Xiaowen (Harvard Medical School) ;
Fischer, Christian (University of Tennessee Health Science Center) ;
Fulton, Robert S. (Washington University School of Medicine) ;
Garg, Shilpa (Technical University of Denmark) ;
Groza, Cristian (McGill University) ;
Guarracino, Andrea (Tecnopolo umano. Centro di ricerca sulla genomica) ;
Harvey, William T. (University of Washington School of Medicine) ;
Heumos, Simon (University of Tübingen) ;
Howe, Kerstin (Wellcome Trust Sanger Institute (Regne Unit)) ;
Jain, Miten (Northeastern University (USA)) ;
Lu, Tsung-Yu (University of Southern California) ;
Markello, Charles (University of California) ;
Martin, Fergal J. (Wellcome Genome Campus (UK)) ;
Mitchell, Matthew W. (Coriell Institute for Medical Research (USA)) ;
Munson, Katherine M. (University of Washington School of Medicine) ;
Mwaniki, Moses Njagi (Università di Pisa) ;
Novak, Adam M. (University of California) ;
Olsen, Hugh E. (University of California) ;
Pesout, Trevor (University of California) ;
Porubsky, David (University of Washington School of Medicine) ;
Prins, Pjotr (University of Tennessee Health Science Center) ;
Sibbesen, Jonas A. (University of Copenhagen) ;
Sirén, Jouni (University of California) ;
Tomlinson, Chad (Washington University School of Medicine) ;
Villani, Flavia (University of Tennessee Health Science Center) ;
Vollger, Mitchell R. (University of Washington School of Medicine) ;
Antonacci-Fulton, Lucinda L. (Washington University School of Medicine) ;
Baid, Gunjan (Google (USA)) ;
Baker, Carl A. (University of Washington School of Medicine) ;
Belyaeva, Anastasiya (Google (USA)) ;
Billis, Konstantinos (Wellcome Genome Campus (UK)) ;
Carroll, Andrew (Google (USA)) ;
Chang, Pi-Chuan (Google (USA)) ;
Cody, Sarah (Washington University School of Medicine) ;
Cook, Daniel E. (Google (USA)) ;
Cook-Deegan, Robert M. (Arizona State University) ;
Cornejo, Omar E. (University of California) ;
Diekhans, Mark (University of California) ;
Ebert, Peter (Heinrich Heine University) ;
Fairley, Susan (Wellcome Genome Campus (UK)) ;
Fedrigo, Olivier (The Rockefeller University) ;
Felsenfeld, Adam L. (National Institutes of Health (USA)) ;
Formenti, Giulio (The Rockefeller University) ;
Frankish, Adam (Wellcome Genome Campus (UK)) ;
Gao, Yan (The Children's Hospital of Philadelphia) ;
Garrison, Nanibaa' A. (University of California) ;
Giron, Carlos Garcia (Wellcome Genome Campus (UK)) ;
Green, Richard E. (Dovetail Genomics) ;
Haggerty, Leanne (Wellcome Genome Campus (UK)) ;
Hoekzema, Kendra (University of Washington School of Medicine) ;
Hourlier, Thibaut (Wellcome Genome Campus (UK)) ;
Ji, Hanlee P. (Stanford University School of Medicine) ;
Kenny, Eimear E. (Icahn School of Medicine at Mount Sinai) ;
Koenig, Barbara A. (University of California) ;
Kolesnikov, Alexey (Google (USA)) ;
Korbel, Jan O. (European Molecular Biology Laboratory) ;
Kordosky, Jennifer (University of Washington School of Medicine) ;
Koren, Sergey (National Institutes of Health (USA)) ;
Lee, HoJoon (Stanford University School of Medicine) ;
Lewis, Alexandra P. (University of Washington School of Medicine) ;
Magalhães, Hugo (Heinrich Heine University) ;
Marco-Sola, Santiago (Universitat Autònoma de Barcelona. Departament d'Arquitectura de Computadors i Sistemes Operatius) ;
Marijon, Pierre (Heinrich Heine University) ;
McCartney, Ann (National Institutes of Health (USA)) ;
McDaniel, Jennifer (National Institute of Standards and Technology (USA)) ;
Mountcastle, Jacquelyn (The Rockefeller University) ;
Nattestad, Maria (Google (USA)) ;
Nurk, Sergey (National Institutes of Health (USA)) ;
Olson, Nathan D. (National Institute of Standards and Technology (USA)) ;
Popejoy, Alice B. (University of California) ;
Puiu, Daniela (Johns Hopkins University) ;
Rautiainen, Mikko (National Institutes of Health (USA)) ;
Regier, Allison A. (Washington University School of Medicine) ;
Rhie, Arang (National Institutes of Health (USA)) ;
Sacco, Samuel (University of California) ;
Sanders, Ashley D. (Max Delbrück Center for Molecular Medicine in the Helmholtz Association) ;
Schneider, Valerie A. (National Institutes of Health (USA)) ;
Schultz, Baergen I. (National Institutes of Health (USA)) ;
Shafin, Kishwar (Google (USA)) ;
Smith, Michael W. (National Institutes of Health (USA)) ;
Sofia, Heidi J. (National Institutes of Health (USA)) ;
Abou Tayoun, Ahmad N. (Mohammed Bin Rashid University of Medicine and Health Sciences) ;
Thibaud-Nissen, Françoise (National Institutes of Health (USA)) ;
Tricomi, Francesca Floriana (Wellcome Genome Campus (UK)) ;
Wagner, Justin (National Institute of Standards and Technology (USA)) ;
Walenz, Brian (National Institutes of Health (USA)) ;
Wood, Jonathan M. D. (Wellcome Trust Sanger Institute (Regne Unit)) ;
Zimin, Aleksey V. (Johns Hopkins University) ;
Bourque, Guillaume (Kyoto University) ;
Chaisson, Mark (University of Southern California) ;
Flicek, Paul (Wellcome Genome Campus (UK)) ;
Phillippy, Adam M. (National Institutes of Health (USA)) ;
Zook, Justin M. (National Institute of Standards and Technology (USA)) ;
Eichler, Evan E. (Howard Hughes Medical Institute) ;
Haussler, David (Howard Hughes Medical Institute) ;
Wang, Ting (Washington University School of Medicine) ;
Jarvis, Erich (The Rockefeller University) ;
Miga, Karen H. (University of California) ;
Garrison, Erik (University of Tennessee Health Science Center) ;
Marschall, Tobias (Heinrich Heine University) ;
Hall, Ira M. (Yale University School of Medicine) ;
Li, Heng (Harvard Medical School) ;
Paten, Benedict (University of California)
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. [...]
2023 -  10.1038/s41586-023-05896-x
Nature, Vol. 617 (May 2023) , p. 312-324
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12 p, 1.2 MB |
Mendelian randomization implies no direct causal association between leukocyte telomere length and amyotrophic lateral sclerosis
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Gao, Yixin (Xuzhou Medical University) ;
Wang, Ting (Xuzhou Medical University) ;
Yu, Xinghao (Xuzhou Medical University) ;
Ferrari, Raffaele (Russell Square House) ;
Hernandez, Dena G. (Queen Square) ;
Nalls, Michael A. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Rohrer, Jonathan D. (Queen Square) ;
Ramasamy, Adaikalavan (University of Oxford) ;
Kwok, John B.J. (University of New South Wales) ;
Dobson-Stone, Carol (University of New South Wales) ;
Brooks, William S. (University of New South Wales) ;
Schofield, Peter R. (Neuroscience Research Australia) ;
Halliday, Glenda M. (Neuroscience Research Australia) ;
Hodges, John R. (Neuroscience Research Australia) ;
Piguet, Olivier (Neuroscience Research Australia) ;
Bartley, Lauren (Neuroscience Research Australia) ;
Thompson, Elizabeth (University of Adelaide) ;
Haan, Eric (University of Adelaide) ;
Hernández, Isabel (Institut Català de Neurociéncies Aplicades) ;
Ruiz, Agustín (Institut Català de Neurociéncies Aplicades) ;
Boada, Mercè (Institut Català de Neurociéncies Aplicades) ;
Borroni, Barbara (University of Brescia) ;
Padovani, Alessandro (University of Brescia) ;
Cruchaga, Carlos (Washington University School of Medicine) ;
Cairns, Nigel J. (Washington University) ;
Benussi, Luisa (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Binetti, Giuliano (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Ghidoni, Roberta (IRCCS Istituto Centro San Giovanni di Dio Fatebenefratelli) ;
Forloni, Gianluigi (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Albani, Diego (IRCCS Istituto di Ricerche Farmacologiche. "Mario Negri") ;
Galimberti, Daniela (IRCCS Ospedale Maggiore Policlinico) ;
Fenoglio, Chiara (IRCCS Ospedale Maggiore Policlinico) ;
Serpente, Maria (IRCCS Ospedale Maggiore Policlinico) ;
Scarpini, Elio (University of Milan) ;
Clarimón, Jordi (Hospital de la Santa Creu i Sant Pau (Barcelona, Catalunya)) ;
Lleó, Alberto (Institut d'Investigació Biomèdica Sant Pau) ;
Blesa, Rafael (Institut d'Investigació Biomèdica Sant Pau) ;
Waldö, Maria Landqvist (Lund University) ;
Nilsson, Karin (Lund University) ;
Nilsson, Christer (Lund University) ;
Mackenzie, Ian R.A. (University of British Columbia) ;
Hsiung, Ging-Yuek R. (University of British Columbia) ;
Mann, David M. A. (Salford Royal Hospital) ;
Grafman, Jordan (Northwestern University) ;
Morris, Christopher M. (Newcastle University) ;
Attems, Johannes (Newcastle University) ;
Griffiths, Timothy D. (Newcastle University Medical School) ;
McKeith, Ian G. (Newcastle University) ;
Thomas, Alan J. (Newcastle University) ;
Pietrini, Pietro (IMT School for Advanced Studies) ;
Huey, Edward D. (Columbia University) ;
Wassermann, Eric M. (National Insititutes of Health) ;
Baborie, Atik (University of Alberta Edmonton) ;
Jaros, Evelyn (Newcastle University) ;
Tierney, Michael C. (National Insititutes of Health) ;
Pastor, Pau (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Razquin, Cristina (Universidad de Navarra) ;
Ortega-Cubero, Sara (Universidad de Navarra) ;
Alonso, Elena (Universidad de Navarra) ;
Perneczky, Robert (West London Mental Health Trust) ;
Diehl-Schmid, Janine (Technische Universität München) ;
Alexopoulos, Panagiotis (Technische Universität München) ;
Kurz, Alexander (Technische Universität München) ;
Rainero, Innocenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rubino, Elisa (A.O. Città della Salute e della Scienza di Torino) ;
Pinessi, Lorenzo (A.O. Città della Salute e della Scienza di Torino) ;
Rogaeva, Ekaterina (University of Toronto) ;
St George Hyslop, Peter (University of Cambridge) ;
Rossi, Giacomina (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Tagliavini, Fabrizio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Giaccone, Giorgio (Fondazione IRCCS Istituto Neurologico Carlo Besta) ;
Rowe, James B. (Behavioural and Clinical Neuroscience Institute) ;
Schlachetzki, Johannes C. M. (University of California San Diego) ;
Uphill, James (University College London. Institute of Neurology) ;
Collinge, John (University College London. Institute of Neurology) ;
Mead, Simon (University College London. Institute of Neurology) ;
Danek, Adrian (German Center for Neurodegenerative Diseases (DZNE)) ;
Van Deerlin, Vivianna M. (University of Pennsylvania Perelman School of Medicine) ;
Grossman, Murray (University of Pennsylvania Perelman School of Medicine) ;
Trojanowski, John Q. (University of Pennsylvania Perelman School of Medicine) ;
van der Zee, Julie (University of Antwerp) ;
Cruts, Marc (University of Antwerp) ;
Van Broeckhoven, Christine (University of Antwerp) ;
Cappa, Stefano F. (Vita-Salute University and San Raffaele Scientific Institute) ;
Leber, Isabelle (CNRS UMR 7225) ;
Hannequin, Didier (Rouen University Hospital (França)) ;
Golfier, Véronique (CH Saint Brieuc) ;
Vercelletto, Martine (CHU Nantes) ;
Brice, Alexis (AP-HP. Hôpital de la Salpêtrière) ;
Nacmias, Benedetta (University of Florence) ;
Sorbi, Sandro (University of Florence and IRCCS "Don Carlo Gnocchi" Firenze) ;
Bagnoli, Silvia (University of Florence) ;
Piaceri, Irene (University of Florence) ;
Nielsen, Jørgen E. (Copenhagen University Hospital) ;
Hjermind, Lena E. (University of Copenhagen) ;
Riemenschneider, Matthias (Saarland University) ;
Mayhaus, Manuel (Saarland University) ;
Ibach, Bernd (University Regensburg) ;
Gasparoni, Gilles (Saarland University) ;
Pichler, Sabrina (Saarland University) ;
Gu, Wei (University of Luxembourg) ;
Rossor, Martin N. (Queen Square) ;
Fox, Nick C. (University College London Queen Square Institute of Neurology. Dementia Research Centre) ;
Warren, Jason D. (Queen Square) ;
Spillantini, Maria Grazia (University of Cambridge) ;
Morris, Huw R. (Russell Square House) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases-Tübingen) ;
Heutink, Peter (German Center for Neurodegenerative Diseases-Tübingen) ;
Snowden, Julie S. (University of Manchester) ;
Rollinson, Sara (University of Manchester) ;
Richardson, Anna (University of Manchester) ;
Gerhard, Alexander (The University of Manchester) ;
Bruni, Amalia C. (ASPCZ) ;
Maletta, Raffaele (ASPCZ) ;
Frangipane, Francesca (ASPCZ) ;
Cupidi, Chiara (ASPCZ) ;
Bernardi, Livia (ASPCZ) ;
Anfossi, Maria (ASPCZ) ;
Gallo, Maura (ASPCZ) ;
Conidi, Maria Elena (ASPCZ) ;
Smirne, Nicoletta (ASPCZ) ;
Rademakers, Rosa (Mayo Clinic Jacksonville) ;
Baker, Matt (Mayo Clinic Jacksonville) ;
Dickson, Dennis W. (Mayo Clinic Jacksonville) ;
Graff-Radford, Neill R. (Mayo Clinic Jacksonville) ;
Petersen, Ronald C. (Mayo Clinic Rochester) ;
Knopman, David (Mayo Clinic Rochester) ;
Josephs, Keith A. (Mayo Clinic Rochester) ;
Boeve, Bradley (Mayo Clinic Rochester) ;
Parisi, Joseph E. (Mayo Clinic Rochester) ;
Seeley, William W. (University of California) ;
Miller, Bruce L. (University of California) ;
Karydas, Anna M. (University of California) ;
Rosen, Howard (University of California) ;
van Swieten, John C. (VU University Medical Centre) ;
Dopper, Elise G. P. (Erasmus Medical Centre) ;
Seelaar, Harro (Erasmus Medical Centre) ;
Pijnenburg, Yolande A. L. (VU University Medical Centre) ;
Scheltens, Philip (VU University Medical Centre) ;
Logroscino, Giancarlo (University of Bari) ;
Capozzo, Rosa (University of Bari) ;
Novelli, Valeria (Fondazione Policlinico Universitario A. Gemelli) ;
Puca, Annibale A. (University of Salerno) ;
Franceschi, Massimo (IRCCS Multimedica) ;
Postiglione, Alfredo (University of Naples Federico II) ;
Milan, Graziella (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Sorrentino, Paolo (Geriatric Center Frullone- ASL Napoli 1 Centro) ;
Kristiansen, Mark (Institute of Child Health (ICH)) ;
Chiang, Huei-Hsin (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Graff, Caroline (Karolinska University Hospital and Karolinska Institutet (Suecia)) ;
Pasquier, Florence (Univ Lille) ;
Rollin, Adeline (Univ Lille) ;
Deramecourt, Vincent (Univ Lille) ;
Lebouvier, Thibaud (Univ Lille) ;
Kapogiannis, Dimitrios (National Institute on Aging (NIA/NIH)) ;
Ferrucci, Luigi (National Institute on Aging (Baltimore, Estats Units d'Amèrica)) ;
Pickering-Brown, S. (University of Manchester) ;
Singleton, Andrew B. (National Institute on Aging (Bethesda, Estats Units d'Amèrica)) ;
Hardy, John (Russell Square House) ;
Momeni, Parastoo (Texas Tech University Health Science Center) ;
Zhao, Huashuo (Xuzhou Medical University) ;
Zeng, Ping (Xuzhou Medical University) ;
Universitat Autònoma de Barcelona
We employed Mendelian randomization (MR) to evaluate the causal relationship between leukocyte telomere length (LTL) and amyotrophic lateral sclerosis (ALS) with summary statistics from genome-wide association studies (n = ~ 38,000 for LTL and ~ 81,000 for ALS in the European population; n = ~ 23,000 for LTL and ~ 4,100 for ALS in the Asian population). [...]
2020 - 10.1038/s41598-020-68848-9
Scientific reports, Vol. 10 Núm. 1 (january 2020) , p. 12184
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