{"id":"W4366162959","doi":"10.1038/s41591-023-02268-w","title":"Genomics of perivascular space burden unravels early mechanisms of cerebral small vessel disease","year":2023,"lang":"en","type":"article","venue":"Nature Medicine","topic":"Cerebrospinal fluid and hydrocephalus","field":"Neuroscience","cited_by":123,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; University of Toronto; SickKids Foundation; Hospital for Sick Children; McGill University","funders":"National Institute of Neurological Disorders and Stroke; National Institute for Dementia Research; National Institute on Aging; European Regional Development Fund; Alzheimer's Society; Canadian Institutes of Health Research; Agence Nationale de la Recherche; Universität Greifswald; Instituto de Salud Carlos III; UK Dementia Research Institute; Centre for Cognitive Ageing and Cognitive Epidemiology; Siemens Healthineers; McKnight Foundation; Servier; Medical Research Council; National Health and Medical Research Council; Neuraxpharm; Austrian Science Fund; Medizinische Universität Graz; Ministry of Cultural Affairs; Université de Lille; Oesterreichische Nationalbank; Directorate for Biological Sciences; Mutuelle Générale de l'Education Nationale; National Heart, Lung, and Blood Institute; Biotechnology and Biological Sciences Research Council; National Medical Research Council; Fondation Bettencourt Schueller; National University Health System; Sanofi; Fondation de France; Fondation pour la Recherche Médicale; ZonMw; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Bundesministerium für Bildung und Forschung; Ministry of Education, Culture, Sports, Science and Technology; Fondation Leducq; Bundesministerium für Wissenschaft, Forschung und Wirtschaft; Japan Society for the Promotion of Science; University of Edinburgh; Cilag; Université de Bordeaux; Genome Canada; Compute Canada; Age UK; Fresenius Medical Care North America; Development of Innovative Strategies for a Transdisciplinary approach to ALZheimer's disease; Scottish Funding Council; Erasmus Medisch Centrum; Neuroscience Research Australia; Mrs Gladys Row Fogo Charitable Trust; Karl-Franzens-Universität Graz; Japan Agency for Medical Research and Development; McGill University; European Commission; Institut National de la Santé et de la Recherche Médicale; EU Joint Programme – Neurodegenerative Disease Research","keywords":"White matter; Perivascular space; Mendelian randomization; Leukodystrophy; Population; Genome-wide association study; Stroke (engine); Biology; Pathology; Disease; CADASIL; Magnetic resonance imaging; Medicine; Neuroscience; Dementia; Genetics; Gene; Single-nucleotide polymorphism","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003845847,0.0002596341,0.0003832892,0.0005828639,0.0001421583,0.000706412,0.0002391397,0.0003452262,0.0008401954],"category_scores_gemma":[0.0007205681,0.0001694135,0.0002382405,0.0004302016,0.0002954384,0.000390898,0.0003756163,0.0003450058,0.0001058639],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001905892,"about_ca_system_score_gemma":0.0002387385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002141712,"about_ca_topic_score_gemma":0.00177485,"domain_scores_codex":[0.9998255,0.00004237283,0.00001055317,0.0000653989,0.00002785102,0.00002817285],"domain_scores_gemma":[0.9996837,0.00007859832,0.0001307516,0.00003558524,0.00003111731,0.00004020946],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001720313,0.0001022439,0.6156114,0.0004162223,0.0009707552,0.001729914,0.001156104,0.003065043,0.2606057,0.005119449,0.001996914,0.1075059],"study_design_scores_gemma":[0.00002218353,0.0001701212,0.9856701,0.00004659622,0.0002044948,0.0006468279,0.0002206673,0.001884892,0.004728607,0.00378402,0.002597461,0.0000240205],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9891368,0.004717328,0.00399113,0.0003351098,0.00002075598,0.000007627752,0.0007186182,0.000053376,0.001019306],"genre_scores_gemma":[0.9957163,0.001721012,0.001607994,0.0001244046,0.00003894761,0.000008083091,0.0003525053,0.00001604372,0.0004147251],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002141712,"threshold_uncertainty_score":0.004258513,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01796016538904821,"score_gpt":0.2591025303152881,"score_spread":0.2411423649262399,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). 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