{"id":"W4205544024","doi":"10.1093/brain/awab432","title":"Gene-mapping study of extremes of cerebral small vessel disease reveals TRIM47 as a strong candidate","year":2021,"lang":"en","type":"article","venue":"Brain","topic":"Cancer-related molecular mechanisms research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":33,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre","funders":"Cilag; National Institute of Neurological Disorders and Stroke; National Heart, Lung, and Blood Institute; National Institute on Aging; Canadian Institutes of Health Research; Ipsen; Medical Research Council; Neuraxpharm; Medical Research Council Canada; Université de Bordeaux; Bundesministerium für Wissenschaft, Forschung und Wirtschaft; Bundesministerium für Bildung und Forschung; Biotechnology and Biological Sciences Research Council; Johns Hopkins University; ZonMw; UK Research and Innovation; Servier; EU Joint Programme – Neurodegenerative Disease Research; Agence Nationale de la Recherche; National Health and Medical Research Council; Fresenius Medical Care North America; Celgene; Biogen; GlaxoSmithKline; European Commission; National Institutes of Health; U.S. Department of Health and Human Services","keywords":"Mendelian randomization; Exome; Genome-wide association study; Exome sequencing; Candidate gene; Genetic association; Disease; Dementia; Population; Medicine; Genetics; Pathology; Biology; Single-nucleotide polymorphism; Phenotype; Genotype; Gene","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":[0.0004819349,0.0002051618,0.0004018984,0.0007606206,0.0003173142,0.0003227948,0.0002323436,0.0003772883,0.001920743],"category_scores_gemma":[0.001325118,0.0001375211,0.0003874512,0.00080294,0.0002811342,0.00009355863,0.000391504,0.0004201851,0.0002549532],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009371006,"about_ca_system_score_gemma":0.0001258731,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006001422,"about_ca_topic_score_gemma":0.0007840321,"domain_scores_codex":[0.999731,0.00007576008,0.00001881626,0.00009708482,0.00004279628,0.0000344919],"domain_scores_gemma":[0.999418,0.0002254453,0.0001478682,0.00008808744,0.00003385844,0.00008678489],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002699459,0.0001263531,0.7634424,0.0001386881,0.0008667298,0.007460862,0.0005035366,0.0005779028,0.1799856,0.001003224,0.001542836,0.04165244],"study_design_scores_gemma":[0.00007030556,0.0002381906,0.9861959,0.00001700186,0.0002565363,0.005064035,0.0000912282,0.0008673339,0.005051109,0.0007729998,0.001361911,0.00001344109],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981934,0.0002666849,0.0008540536,0.00006211509,0.000004570948,0.000004385111,0.0002881053,0.00001939653,0.0003073033],"genre_scores_gemma":[0.9981127,0.00017665,0.000958119,0.00006928118,0.00001431498,0.000009592763,0.0004352041,0.00000916883,0.000215043],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001920743,"threshold_uncertainty_score":0.0064255,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02426469630607533,"score_gpt":0.2910010909114727,"score_spread":0.2667363946053974,"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."}}