{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002581344,0.0001485554,0.0002425788,0.00006576673,0.00004507793,0.00001512615,0.0002265681,0.00009366836,0.00006571156],"category_scores_gemma":[0.0004257408,0.0001601405,0.0001220549,0.0002275517,0.00004728697,0.000003010357,0.0002664327,0.0001073582,0.00000240431],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002226321,"about_ca_system_score_gemma":0.000496138,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001952666,"about_ca_topic_score_gemma":0.0001653151,"domain_scores_codex":[0.9984559,0.0002447235,0.0003281085,0.0004281669,0.0002638049,0.0002792344],"domain_scores_gemma":[0.9988902,0.00002348184,0.0001288645,0.0006012579,0.0001997025,0.0001565097],"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":[0.000190436,0.0003344319,0.001070375,0.00008014321,0.0001889099,0.00008030191,0.0001899407,0.0001767268,0.9950204,0.00008405195,0.0006588325,0.001925442],"study_design_scores_gemma":[0.002420583,0.0005144763,0.005903344,0.00007306772,0.0000543289,0.00001392914,0.001147196,0.0001010995,0.986957,0.0001571285,0.002428208,0.0002296975],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943399,0.00146055,0.003116972,0.0001942951,0.00006683379,0.0004003535,0.000067963,0.000007016191,0.0003460952],"genre_scores_gemma":[0.9976178,0.00006240616,0.000404694,0.0001037389,0.00007593315,0.00003619976,0.0001321394,0.00003042338,0.001536619],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008063465,"threshold_uncertainty_score":0.6530342,"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."}}