{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0007179555,0.0004632703,0.0003945506,0.0009285587,0.0003745006,0.0004384339,0.0003527474,0.0005123006,0.00140499],"category_scores_gemma":[0.001768369,0.0001746709,0.0005874436,0.0006076003,0.0003488518,0.0001647454,0.0006211115,0.0003647458,0.0001418526],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001011287,"about_ca_system_score_gemma":0.0001489313,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002192443,"about_ca_topic_score_gemma":0.003068636,"domain_scores_codex":[0.9994374,0.0001427142,0.00007532378,0.000247133,0.00005771052,0.00003980441],"domain_scores_gemma":[0.9989737,0.0002917593,0.0003761371,0.000187053,0.00005513206,0.0001160971],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002072297,0.00006554263,0.9632271,0.00003179907,0.000354804,0.001071093,0.0002709817,0.0004027717,0.02675795,0.0001696097,0.0001110328,0.005465086],"study_design_scores_gemma":[0.0000484472,0.0002978705,0.9950863,0.000004565123,0.0001344379,0.001740524,0.00006113383,0.0004860546,0.001665815,0.000201146,0.0002603033,0.00001343421],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99875,0.0000422354,0.0006552826,0.00001142563,0.000002136726,0.000007234684,0.0003640799,0.000007698366,0.0001599349],"genre_scores_gemma":[0.9982885,0.00002895426,0.0009211941,0.00002790943,0.000007775814,0.00001788488,0.0005632403,0.000008385166,0.000136172],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002192443,"threshold_uncertainty_score":0.004700184,"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."}}