{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002045817,0.0001257498,0.0001463197,0.0001181187,0.0001375832,0.00002110593,0.00006818507,0.0001086637,0.00003996495],"category_scores_gemma":[0.00004295029,0.0001269373,0.0000616246,0.0001612535,0.00007140463,0.00001608764,0.00005469506,0.0001071556,0.00003285177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003290451,"about_ca_system_score_gemma":0.00004860398,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001847999,"about_ca_topic_score_gemma":0.0003152733,"domain_scores_codex":[0.9989494,0.0001151918,0.0001638715,0.0003319644,0.0002303345,0.0002092172],"domain_scores_gemma":[0.9994709,0.000007423835,0.00003493557,0.0002584746,0.0001624681,0.00006581666],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001100018,0.0008171028,0.8311442,0.0002962695,0.001418101,0.0003235646,0.004355473,0.001852719,0.03314862,0.0007606764,0.000265164,0.1245181],"study_design_scores_gemma":[0.001254881,0.0007252386,0.9946696,0.0000191806,0.00006350536,0.00003931851,0.00008238119,0.0001222542,0.00143714,0.0001816925,0.001162967,0.0002418918],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9967887,0.0004186415,0.0005921792,0.000003441721,0.0000506666,0.0004244224,0.000009689567,0.00001502335,0.001697211],"genre_scores_gemma":[0.999168,0.00002104254,0.0002455659,0.00001397774,0.00003229276,0.00004548424,0.000323465,0.00002606041,0.0001240525],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1635254,"threshold_uncertainty_score":0.5176352,"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."}}