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Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage
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Chen, Zhongbo (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Zhang, David (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Reynolds, Regina H. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Gustavsson, Emil K. (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
García-Ruiz, Sonia (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
D'Sa, Karishma (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Fairbrother-Browne, Aine (Department of Genetics and Genomic Medicine. Great Ormond Street Institute of Child Health. University College London) ;
Vandrovcova, Jana (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Noyce, Alastair J. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kaiyrzhanov, Rauan (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Middlehurst, Ben (Institute of Translational Medicine. University of Liverpool) ;
Kia, Demis A. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Tan, Manuela (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Morris, Huw R. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Plun-Favreau, Helen (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Holmans, Peter (MRC Centre for Neuropsychiatric Genetics & Genomics) ;
Trabzuni, Daniah (Department of Genetics. King Faisal Specialist Hospital and Research Centre) ;
Bras, Jose (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Quinn, John (Institute of Translational Medicine. University of Liverpool) ;
Mok, Kin Y. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Kinghorn, Kerri J. (Institute of Healthy Ageing. University College London (UCL)) ;
Billingsley, Kimberley (Institute of Translational Medicine. University of Liverpool) ;
Wood, Nicholas W.. (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Lewis, Patrick (University of Reading) ;
Schreglmann, Sebastian (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guerreiro, Rita (UK Dementia Research Institute. University College London (UCL)) ;
Lovering, Ruth (Institute of Cardiovascular Science. University College London (UCL)) ;
R'Bibo, Lea (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Manzoni, Claudia (University of Reading) ;
Rizig, Mie (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Guelfi, Sebastian (Department of Neurodegenerative Disease. Queen Square Institute of Neurology. University College London (UCL)) ;
Escott-Price, Valentina (Cardiff University School of Medicine) ;
Chelban, Viorica (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Foltynie, Thomas (UCL Queen Square Institute of Neurology (Regne Unit)) ;
Williams, Nigel (Cardiff University School of Medicine) ;
Brice, Alexis (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Danjou, Fabrice (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Lesage, Suzanne (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Corvol, Jean-Christophe (Institut du Cerveau et de la Moelle épinière (París, França)) ;
Martinez Rande, Maria (INSERM UMR 1220 and Paul Sabatier University) ;
Schulte, Claudia (German Center for Neurodegenerative Diseases) ;
Brockmann, Kathrin (German Center for Neurodegenerative Diseases) ;
Simón-Sánchez, Javier (German Center for Neurodegenerative Diseases) ;
Heutink, Peter (German Center for Neurodegenerative Diseases) ;
Rizzu, Patrizia (German Center for Neurodegenerative Diseases) ;
Sharma, Manu (Centre for Genetic Epidemiology. Institute for Clinical Epidemiology and Applied Biometry. University of Tubingen) ;
Gasser, Thomas (German Center for Neurodegenerative Diseases) ;
Nicolas, Aude (National Institute on Aging (Estats Units d'Amèrica)) ;
Cookson, Mark R (National Institute on Aging (Estats Units d'Amèrica)) ;
Bandres-Ciga, Sara (National Institute on Aging (Estats Units d'Amèrica)) ;
Blauwendraat, Cornelis (National Institute of Neurological Disorders and Stroke) ;
Craig, David W (Department of Translational Genomics. Keck School of Medicine. University of Southern California) ;
Faghri, Faraz (Department of Computer Science. University of Illinois at Urbana-Champaign) ;
Gibbs, J.Raphael (National Institute on Aging (Estats Units d'Amèrica)) ;
Hernandez, Dena G. (National Institute on Aging (Estats Units d'Amèrica)) ;
Van Keuren-Jensen, Kendall (Neurogenomics Division. TGen) ;
Shulman, Joshua M. (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Leonard, Hampton L. (Laboratory of Neurogenetics. National Institute on Aging) ;
Nalls, Mike A. (Data Tecnica International) ;
Robak, Laurie (Jan and Dan Duncan Neurological Research Institute. Texas Children's Hospital) ;
Lubbe, Steven (Ken and Ruth Davee Department of Neurology. Northwestern University Feinberg School of Medicine) ;
Finkbeiner, Steven (Taube/Koret Center for Neurodegenerative Disease Research) ;
Mencacci, Niccolo E. (Northwestern University Feinberg School of Medicine) ;
Lungu, Codrin (National Institutes of Health Division of Clinical Research. NINDS. National Institutes of Health) ;
Singleton, Andrew B. (Laboratory of Neurogenetics. National Institute on Aging) ;
Scholz, Sonja (Neurodegenerative Diseases Research Unit. National Institute of Neurological Disorders and Stroke) ;
Reed, Xylena (Laboratory of Neurogenetics. National Institute on Aging) ;
Alcalay, Roy N (Taub Institute for Research on Alzheimer's Disease and the Aging Brain. College of Physicians and Surgeons. Columbia University Medical Center) ;
Gan-Or, Ziv (McGill University) ;
Rouleau, Guy A. (McGill University) ;
Krohn, Lynne (McGill University) ;
van Hilten, Jacobus J. (Department of Neurology. Leiden University Medical Center) ;
Marinus, Johan (Department of Neurology. Leiden University Medical Center) ;
Adarmes-Gómez, A.D (Instituto de Biomedicina de Sevilla) ;
Aguilar Barberà, Miquel (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Alvarez, Ignacio (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Alvarez, Victoria (Hospital Universitario Central de Asturias) ;
Barrero, Francisco Javier (Hospital Universitario San Cecilio (Granada)) ;
Bergareche Yarza, Jesús Alberto (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Bernal-Bernal, Inmaculada (Hospital Clínic i Provincial de Barcelona) ;
Blázquez Estrada, Marta (Hospital Universitario Central de Asturias) ;
Bonilla-Toribio, Marta (Hospital Clínic i Provincial de Barcelona) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Boungiorno, M. T (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Buiza-Rueda, Dolores (Instituto de Biomedicina de Sevilla) ;
Cámara, Ana (Hospital Clínic i Provincial de Barcelona) ;
Carrillo, Fátima (Instituto de Biomedicina de Sevilla) ;
Carrión-Claro, M (Instituto de Biomedicina de Sevilla) ;
Cerdan, Debora (Hospital General de Segovia) ;
Clarimón, Jordi (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Compta, Yaroslau (Hospital Clínic i Provincial de Barcelona) ;
Diez-Fairen, Monica (Fundacio per la Recerca Biomedica i Social Mutua Terrassa) ;
Dols Icardo, Oriol (Institut d'Investigació Biomèdica Sant Pau) ;
Duarte, Jacinto (Hospital General de Segovia) ;
Duran, Raquel (Centro de Investigacion Biomedica. Universidad de Granada) ;
Escamilla-Sevilla, Francisco (Instituto de Investigación Sanitaria de Granada) ;
Ezquerra, Mario (Hospital Clínic i Provincial de Barcelona) ;
Feliz, Cici (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Fernández, Manel (Hospital Clínic i Provincial de Barcelona) ;
Fernández-Santiago, Rubén (Hospital Clínic i Provincial de Barcelona) ;
Garcia, Ciara (Hospital Universitario Central de Asturias) ;
García-Ruiz, Pedro (Instituto de Investigación Sanitaria de la Fundación Jiménez Díaz) ;
Gómez-Garre, Pilar (Instituto de Biomedicina de Sevilla) ;
Gomez Heredia, Maria Jose (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Gonzalez-Aramburu, Isabel (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Gorostidi Pagola, Ana (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Hoenicka, Janet (Institut de Recerca Sant Joan de Déu) ;
Infante, Jon (Hospital Universitario Ramón y Cajal (Madrid)) ;
Jesús, Silvia (Instituto de Biomedicina de Sevilla) ;
Jimenez-Escrig, Adriano (Hospital Universitario Ramón y Cajal (Madrid)) ;
Kulisevsky, Jaime (Institut d'Investigació Biomèdica Sant Pau) ;
Labrador-Espinosa, Miguel A (Instituto de Biomedicina de Sevilla) ;
Lopez-Sendon, Jose Luis (Hospital Universitario Ramón y Cajal (Madrid)) ;
López de Munain Arregui, Adolfo (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Macias, Daniel (Instituto de Biomedicina de Sevilla) ;
Martínez Torres, Irene (Hospital Universitari i Politècnic La Fe (València)) ;
Marín, Juan (Centro de Investigación Biomédica en Red sobre Enfermedades Neurodegenerativas) ;
Marti, Maria Jose (Hospital Clínic i Provincial de Barcelona) ;
Martínez-Castrillo, Juan Carlos (Hospital Universitario Ramón y Cajal (Madrid)) ;
Méndez-del-Barrio, Carlota (Instituto de Biomedicina de Sevilla) ;
Menéndez González, Manuel (Hospital Universitario Central de Asturias) ;
Mata, Marina (Hospital Universitario Infanta Sofía (San Sebastián de los Reyes)) ;
Mínguez, Adolfo (Instituto de Investigación Sanitaria de Granada) ;
Mir, Pablo (Instituto de Biomedicina de Sevilla) ;
Mondragon Rezola, Elisabet (Biodonostia Osasun Ikerketako Institutura (País Basc)) ;
Muñoz, Esteban (Instituto de Biomedicina de Sevilla) ;
Pagonabarraga Mora, Javier (Institut d'Investigació Biomèdica Sant Pau) ;
Pastor, Pau (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Perez Errazquin, Francisco (Hospital Universitario Virgen de la Victoria (Màlaga, Andalusia)) ;
Periñán-Tocino, Teresa (Instituto de Biomedicina de Sevilla) ;
Ruiz-Martínez, Javier (Hospital Universitario Donostia. Instituto de Investigación Sanitaria Biodonostia) ;
Ruz, Clara (Centro de Investigacion Biomedica. Universidad de Granada) ;
Sanchez Rodriguez, Antonio (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Sierra, María (Instituto de Investigación Sanitaria Valdecilla (Santander, Cantàbria)) ;
Suarez-Sanmartin, Esther (Hospital Universitario Central de Asturias) ;
Tabernero, Cesar (Hospital General de Segovia) ;
Tartari, Juan Pablo (Hospital Universitari MútuaTerrassa (Terrassa, Catalunya)) ;
Tejera-Parrado, Cristina (Instituto de Biomedicina de Sevilla) ;
Tolosa, Eduard (Hospital Clínic i Provincial de Barcelona) ;
Valldeoriola, Francesc (Hospital Clínic i Provincial de Barcelona) ;
Vargas-González, Laura (Instituto de Biomedicina de Sevilla) ;
Vela, Lydia (Hospital Universitario Fundación Alcorcón) ;
Vives, Francisco (Centro de Investigacion Biomedica. Universidad de Granada) ;
Zimprich, Alexander (Department of Neurology. Medical University of Vienna) ;
Pihlstrom, Lasse (Oslo University Hospital (Oslo, Noruega)) ;
Toft, Mathias (Oslo University Hospital (Oslo, Noruega)) ;
Koks, Sulev (Department of Reproductive Biology. Estonian University of Life Sciences) ;
Taba, Pille (Department of Neurology and Neurosurgery. University of Tartu) ;
Hassin-Baer, Sharon (Sackler Faculty of Medicine. Tel Aviv University) ;
Hardy, John (Institute for Advanced Study. The Hong Kong University of Science and Technology. The Hong Kong University of Science and Technology) ;
Houlden, Henry (Department of Neuromuscular Disease. Queen Square Institute of Neurology. UCL) ;
Gagliano Taliun, Sarah A. (Montréal Heart Institute) ;
Botía, Juan (Universidad de Murcia. Departamento de Ingeniería de la Información y las Comunicaciones) ;
Ryten, Mina (Great Ormond Street Institute of Child Health (Londres, Regne Unit)) ;
Universitat Autònoma de Barcelona
Knowledge of genomic features specific to the human lineage may provide insights into brain-related diseases. We leverage high-depth whole genome sequencing data to generate a combined annotation identifying regions simultaneously depleted for genetic variation (constrained regions) and poorly conserved across primates. [...]
2021 -  10.1038/s41467-021-22262-5
Nature communications, Vol. 12 Núm. 1 (january 2021) , p. 2076
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