{"id":"W2922106038","doi":"10.1093/brain/awz024","title":"Association of variants in<i>HTRA1</i>and<i>NOTCH3</i>with MRI-defined extremes of cerebral small vessel disease in older subjects","year":2019,"lang":"en","type":"article","venue":"Brain","topic":"Cerebrovascular and genetic disorders","field":"Medicine","cited_by":58,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre","funders":"H2020 European Research Council; Fondation Leducq; Agence Nationale de la Recherche; National Center for Research Resources; National Heart, Lung, and Blood Institute; National Center for Advancing Translational Sciences; Medical Research Council; Canadian Institutes of Health Research; National Institute on Aging; Diabetes Research Center; National Institutes of Health; National Health and Medical Research Council; National Institute of Diabetes and Digestive and Kidney Diseases; Fondation Claude Pompidou; Université de Bordeaux; Bundesministerium für Wissenschaft, Forschung und Wirtschaft; National Institute of Neurological Disorders and Stroke; Center for Hellenic Studies, Harvard University; Bundesministerium für Bildung und Forschung; ZonMw; National Human Genome Research Institute; European Commission; EU Joint Programme – Neurodegenerative Disease Research; Indiana Clinical and Translational Sciences Institute","keywords":"Exome; Exome sequencing; Genetics; Population; Genetic association; Linkage disequilibrium; Genome-wide association study; Candidate gene; Disease; Hyperintensity; Phenotype; Biology; Medicine; Genotype; Pathology; Gene; Magnetic resonance imaging; 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":[0.0003054739,0.0001156736,0.0003360827,0.0001221146,0.000007285162,0.000004827347,0.00005512216,0.00007248198,0.00009912671],"category_scores_gemma":[0.0002589421,0.0001007066,0.00006182343,0.000261613,0.00002748519,0.00003902859,0.00002498524,0.00009187471,0.000004635668],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003254328,"about_ca_system_score_gemma":0.0001445104,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004439257,"about_ca_topic_score_gemma":0.001803266,"domain_scores_codex":[0.9990057,0.00006607523,0.0002628554,0.0002279507,0.00023547,0.0002019442],"domain_scores_gemma":[0.9993622,0.0001741429,0.0001109439,0.0002293462,0.00004766691,0.00007570686],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002967411,0.0003295745,0.9938117,0.000399963,0.00006062831,0.000006340688,0.0007542043,0.00006851896,0.002430759,0.0001142738,0.0002255049,0.001501828],"study_design_scores_gemma":[0.007008004,0.0001396852,0.9909332,0.0003184133,0.00005816437,0.000001529929,0.0001797884,0.0002571328,0.0005929697,0.0001604777,0.000243911,0.000106734],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995416,0.0003289383,0.00006501571,0.001626253,0.00004422528,0.000515058,0.00000852107,0.000009233573,0.001986698],"genre_scores_gemma":[0.9981689,0.00005575415,0.0003356252,0.0002342797,0.0000123756,0.000009676839,0.00002517143,0.00001767366,0.001140524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006711263,"threshold_uncertainty_score":0.4106696,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005751130671896696,"score_gpt":0.2074178624895233,"score_spread":0.2016667318176266,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}