{"id":"W2891284707","doi":"10.1038/s41436-018-0260-9","title":"Haploinsufficiency of vascular endothelial growth factor related signaling genes is associated with tetralogy of Fallot","year":2018,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":96,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Addiction and Mental Health; University of Toronto; SickKids Foundation; University Health Network; Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"Canadian Institutes of Health Research; Wellcome Trust","keywords":"Haploinsufficiency; Tetralogy of Fallot; Loss function; Biology; Proband; Genetics; Von Willebrand factor; Short stature; Vascular endothelial growth factor; Gene; Cancer research; Medicine; Phenotype; Pathology; Endocrinology; Immunology; Mutation; Heart disease; VEGF receptors","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":[0.0003783756,0.0001639348,0.0003532134,0.0001818905,0.00003433532,0.000002590146,0.0002620307,0.0001907247,0.0001449098],"category_scores_gemma":[0.0005699342,0.0001315961,0.00006114089,0.000414884,0.0007569516,0.00000208413,0.00009671368,0.0001369088,0.00000295311],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001919571,"about_ca_system_score_gemma":0.0001412109,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009699837,"about_ca_topic_score_gemma":0.000146974,"domain_scores_codex":[0.9983282,0.0001248149,0.0004466926,0.0003380626,0.0004358873,0.0003263147],"domain_scores_gemma":[0.9988891,0.00008101843,0.0001005229,0.0003490696,0.0004986122,0.00008170166],"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":[0.00008067654,0.0001171728,0.06476661,0.00004649347,0.0001234809,0.000007226058,0.0005028297,0.00001997644,0.9328598,0.00001767198,0.00004892072,0.001409152],"study_design_scores_gemma":[0.002095306,0.0047433,0.02859072,0.0001403787,0.00004448031,0.00001079858,0.0001310709,0.0003049833,0.9631823,0.0001256402,0.000451004,0.0001800464],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9958896,0.00260374,0.0003888687,0.00003880913,0.00009199374,0.0002500602,0.00003504377,0.000006625381,0.0006952812],"genre_scores_gemma":[0.998718,0.000545742,0.0003708829,0.00005032239,0.0001143096,0.000005654029,0.00002369162,0.00002954059,0.0001418196],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03617589,"threshold_uncertainty_score":0.5366334,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02027457327382402,"score_gpt":0.2885406613905069,"score_spread":0.2682660881166828,"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."}}