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13 p, 2.4 MB Human-lineage-specific genomic elements are associated with neurodegenerative disease and APOE transcript usage / 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 W. (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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