We used the summary statistics results of a large whole-exome sequencing (WES) study of LOAD, the Alzheimer’s Disease Sequencing Project (ADSP) case-control study (n = 5,740 LOAD cases and 5,096 cognitively normal controls of NHW ancestry) to identify genes within our genome-wide loci that may contribute to the association signal through rare deleterious coding, splicing or LOF variants. The individuals in the ADSP study largely overlap with individuals in the ADGC and CHARGE cohorts included in our Stage 1 meta-analysis. All 400 protein-coding genes within our LD-defined genome-wide loci were annotated with the gene-based results from this study, and the results were corrected using a 1% FDR P as a cutoff for significance. Complete details of the analysis can be found in Bis et al.49 (link) and the Supplementary Note.
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Inserm, Cardiff University, University of Washington, University of Pennsylvania, Centre National de Recherche en Génomique Humaine, Université Paris-Saclay, Commissariat à l'Énergie Atomique et aux Énergies Alternatives, CEA Paris-Saclay, Erasmus MC, Institut Pasteur de Lille, VIB-UAntwerp Center for Molecular Neurology, Icelandic Heart Association, Fundació ACE, Boston University, University of Eastern Finland, Columbia University, Université Paris Cité, University of Bonn, Dublin City University, University College London, UK Dementia Research Institute, University of Michigan–Ann Arbor, Brown Foundation, University of Cagliari, Centro de Investigación Biomédica en Red, Marqués de Valdecilla University Hospital, Instituto de Investigación Marqués de Valdecilla, Universidad de Cantabria, King's College London, Hospital Universitario de Gran Canaria Doctor Negrín, Aristotle University of Thessaloniki, Université de Rouen Normandie, Normandie Université, MRC Prion Unit, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Medical University of Graz, Case Western Reserve University, Friedrich-Alexander-Universität Erlangen-Nürnberg, Broad Institute, University of North Texas, University of North Texas Health Science Center, University of Antwerp, Saarland University, The University of Texas Southwestern Medical Center, KU Leuven, Johns Hopkins University, Martin Luther University Halle-Wittenberg, Harvard University, University of Oxford, National Institute on Aging, Baylor College of Medicine, University of Southampton, Massachusetts General Hospital, Karolinska University Hospital, German Center for Neurodegenerative Diseases, Indiana University – Purdue University Indianapolis, Uppsala University, University Hospital Bonn, University of Duisburg-Essen, University of Pittsburgh, University of Nottingham, Queen's Medical Centre, Albert Einstein College of Medicine, University of Parma, Medical University of Lodz, Trinity College Dublin, St. James's Hospital, Instituto de Salud Carlos III, Kaiser Permanente Washington Health Research Institute, University of Mississippi Medical Center, University of Bari Aldo Moro, Fundació Clínic per a la Recerca Biomèdica, University Hospital Mútua de Terrassa, Mútua Terrassa, Mayo Clinic in Arizona, Centre Hospitalier Universitaire de Lille, Fondazione Santa Lucia, The University of Texas Health Science Center at Houston, Translational Genomics Research Institute, Université de Lille, The Lundquist Institute, Harbor–UCLA Medical Center, Hôpital Broca, Assistance Publique – Hôpitaux de Paris, Geriatric Research Education and Clinical Center, Veterans Health Administration, Université de Bordeaux, Icahn School of Medicine at Mount Sinai, Institut du Cerveau, Sorbonne Université, Centre National de la Recherche Scientifique, University of Perugia, University of Cambridge, Neuropsychiatrie : Recherche Epidemiologique et Clinique, VA Puget Sound Health Care System, Pitié-Salpêtrière Hospital, Queen's University Belfast, Texas Tech University Health Sciences Center, Texas Tech University, Kuopio University Hospital, Stockholm University, Karolinska Institutet, University of Wisconsin–Madison, AXA Research Fund, Universidade de Santiago de Compostela, Centre for Biomedical Network Research on Rare Diseases, Rush University Medical Center, Central Institute of Mental Health, Heidelberg University, University Hospital Heidelberg, Banner Sun Health Research Institute, Northwestern University, Swedish Medical Center, University of California, San Francisco, Duke University, Brigham Young University, University of Kansas Medical Center, University of Pisa, Washington University in St. Louis, USF Health Byrd Alzheimer's Institute, University of South Florida, Fred Hutch Cancer Center, Bruce W. Carter VA Medical Center, Mayo Clinic in Florida, University of Southern California, Università Cattolica del Sacro Cuore, University of California, Davis, University of California, Irvine, Mount Sinai Medical Center, Universität Hamburg, University Medical Center Hamburg-Eppendorf, University of Alabama at Birmingham, University of Kentucky, New York University, University of Cologne, Charité - Universitätsmedizin Berlin, University of California, San Diego, Emory University, University of Freiburg, University of California, Los Angeles, Brigham and Women's Hospital, Hospital Universitario de Valme, University of Zurich, Oregon Health & Science University, Université de Toulouse, Newcastle Hospitals - Campus for Ageing and Vitality, Newcastle University, LMU Klinikum, Cleveland Clinic, Lou Ruvo Brain Institute, University of Manchester, Manchester Academic Health Science Centre, Helmholtz Zentrum München, Life & Brain (Germany), University Hospital of Wales, Leipzig University, Central University Hospital of Asturias, National Institutes of Health, University of Florence, University of Colorado Denver, Istituti di Ricovero e Cura a Carattere Scientifico, John Radcliffe Hospital, University of Toronto, Occupational Cancer Research Centre, University of Bristol, University of North Carolina at Chapel Hill, National Institute of Neurological Disorders and Stroke, Casa Sollievo della Sofferenza, Hospital La Paz Institute for Health Research, Oasi Maria SS, Columbia University Irving Medical Center, Hospital de Sant Pau, Somerset Partnership NHS Foundation Trust, Wellcome Sanger Institute, Southmead Hospital, Université de Montpellier, Utah State University, Centre Hospitalier du Rouvray, Children's Hospital of Philadelphia, University of Iceland, Institute for Neurodegenerative Disorders
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