{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002884325,0.0002047722,0.0004344927,0.0001927598,0.00006682828,0.000007278614,0.0004677145,0.0001797778,0.0001566325],"category_scores_gemma":[0.001013307,0.0001622879,0.0001322171,0.0008175456,0.000250667,0.00005809657,0.0001473564,0.0004321449,0.00003123297],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003338717,"about_ca_system_score_gemma":0.0000946259,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000910819,"about_ca_topic_score_gemma":0.000003384894,"domain_scores_codex":[0.9982041,0.00006335617,0.0003324554,0.0004278709,0.0006460021,0.0003262024],"domain_scores_gemma":[0.9988987,0.0001479595,0.0001478339,0.0004775924,0.00009528817,0.0002326158],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.000126385,0.00003584058,0.0002818684,0.000213432,0.00001665186,0.00009457783,0.001017191,0.00007401882,0.9541215,0.043027,0.0006755908,0.0003159188],"study_design_scores_gemma":[0.002382032,0.000722274,0.03682827,0.0003171449,0.0001869178,0.00002223531,0.000362718,0.002452616,0.9326975,0.01888046,0.004798363,0.0003494745],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936854,0.0006690526,0.0007557934,0.003021869,0.000652578,0.0002931141,0.00004632265,0.00009054163,0.0007853744],"genre_scores_gemma":[0.9978235,0.0001973605,0.000132892,0.0004121795,0.000361328,0.000005847525,0.00001364142,0.00003614841,0.001017056],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0365464,"threshold_uncertainty_score":0.661791,"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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