{"id":"W2008297680","doi":"10.1002/humu.21568","title":"Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients","year":2011,"lang":"en","type":"article","venue":"Human Mutation","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":75,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Centre for Addiction and Mental Health","funders":"National Institute of Mental Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Heart, Lung, and Blood Institute","keywords":"DiGeorge syndrome; Haploinsufficiency; Biology; TBX1; Genetics; Single-nucleotide polymorphism; Allele; Locus (genetics); Haplotype; Phenotype; Copy-number variation; Genotype; Gene; Gene expression; Promoter","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0002534467,0.0004886187,0.0004146109,0.001062299,0.0005131926,0.0004043768,0.0002202048,0.0005655152,0.002404348],"category_scores_gemma":[0.001385811,0.0003332371,0.0002551827,0.0005264018,0.00035023,0.0001756199,0.0002917345,0.0003771069,0.000288569],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001227409,"about_ca_system_score_gemma":0.00009284566,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001105249,"about_ca_topic_score_gemma":0.0009565194,"domain_scores_codex":[0.999615,0.00007581105,0.00004726505,0.0001592898,0.00005187353,0.00005076542],"domain_scores_gemma":[0.9993885,0.0002203565,0.0001303908,0.00005134362,0.00003582318,0.0001735902],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003546999,0.00003824177,0.9905325,0.000008698235,0.00005028839,0.001416003,0.0001942096,0.00008211589,0.005449776,0.00002674158,0.00005495824,0.001791702],"study_design_scores_gemma":[0.0000203967,0.0002086406,0.9954227,0.000003707109,0.00004037388,0.003442597,0.0001136065,0.000178347,0.0003842458,0.00002691235,0.0001507572,0.000007838682],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997323,0.0000569015,0.00004555529,0.000007852193,0.00000174907,0.000002564312,0.00006072501,0.000001980191,0.00009034411],"genre_scores_gemma":[0.9996196,0.00003240288,0.0000630517,0.00000816164,0.000005515452,0.000006421112,0.0001276675,0.000002931957,0.0001342876],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002404348,"threshold_uncertainty_score":0.008043408,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01810702536578435,"score_gpt":0.237070253525919,"score_spread":0.2189632281601347,"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."}}