{"id":"W2092718406","doi":"10.1038/ejhg.2012.155","title":"Rare DNA copy number variants in cardiovascular malformations with extracardiac abnormalities","year":2012,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"National Institute of General Medical Sciences; National Heart, Lung, and Blood Institute; National Institutes of Health; Gillson Longenbaugh Foundation; March of Dimes Foundation","keywords":"Copy-number variation; Genetics; Biology; Cohort; Gene; Medicine; Genome; Internal medicine","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":[0.001217228,0.0001457761,0.0002209464,0.00009320513,0.00008988078,0.00004623933,0.0002424276,0.00003866882,0.00007794065],"category_scores_gemma":[0.00003455809,0.0001258066,0.0002001971,0.0001075657,0.00008833274,0.00002207485,0.0001176882,0.0002275918,0.00005675093],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002163833,"about_ca_system_score_gemma":0.00006329011,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001843914,"about_ca_topic_score_gemma":0.000005254108,"domain_scores_codex":[0.998245,0.0005336897,0.0003834297,0.0001157087,0.0003587568,0.0003634365],"domain_scores_gemma":[0.9991413,0.0000121209,0.0001077406,0.0003512147,0.000205506,0.0001821531],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004724631,0.0006385351,0.8197008,0.0002640711,0.001996886,0.001133043,0.003962585,0.00184393,0.1407152,0.000214807,0.007044341,0.02201338],"study_design_scores_gemma":[0.003495872,0.001661849,0.7765011,0.0001570202,0.0002250067,0.00342364,0.001036793,0.00001287652,0.06299464,0.00002246825,0.1497265,0.0007421879],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9797858,0.005698659,0.0004919951,0.00001162552,0.0001121212,0.0001133997,0.0000102076,0.000003633238,0.01377259],"genre_scores_gemma":[0.9976473,0.0002818475,0.0009480339,0.00003427369,0.000599329,0.000001603423,0.00001445682,0.00004301513,0.000430164],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1426822,"threshold_uncertainty_score":0.5130246,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01964904006946754,"score_gpt":0.2701843834119423,"score_spread":0.2505353433424748,"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."}}