{"id":"W247100659","doi":"10.1038/gim.2015.60","title":"Exome sequencing identifies rare variants in multiple genes in atrioventricular septal defect","year":2015,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital; Children's Hospital of Eastern Ontario; Health Sciences Centre; Hamilton Health Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children; London Health Sciences Centre","funders":"Hospital for Sick Children; British Heart Foundation; Wellcome Trust; Heart and Stroke Foundation of Canada","keywords":"Proband; Exome sequencing; Atrioventricular Septal Defect; Genetics; Tetralogy of Fallot; Copy-number variation; Down syndrome; Medicine; Exome; Biology; Bioinformatics; Gene; Heart disease; Internal medicine; Mutation","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":[0.001114727,0.0001968212,0.0003082506,0.0003844158,0.00002543088,0.00001599391,0.000273533,0.000200459,0.00002747137],"category_scores_gemma":[0.001039485,0.0001872938,0.00009557209,0.0005899618,0.0001314188,0.000006375064,0.0002719809,0.0002503975,0.00002015696],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001662544,"about_ca_system_score_gemma":0.0002360863,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005778477,"about_ca_topic_score_gemma":0.006575464,"domain_scores_codex":[0.9979131,0.0002311963,0.0004392068,0.0004900702,0.0004160559,0.0005103259],"domain_scores_gemma":[0.9991822,0.00006459826,0.00004727579,0.0004291954,0.0001090611,0.0001676982],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002258767,0.0001271718,0.4974971,0.0001504235,0.00006399246,0.001900646,0.001028948,0.003478267,0.4838333,0.000008656069,0.0005664435,0.01111912],"study_design_scores_gemma":[0.03962522,0.004382916,0.5551032,0.001531348,0.0001656889,0.001281503,0.01124378,0.02389964,0.3351794,0.002588532,0.02213389,0.002864865],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9683101,0.03035186,0.0001438918,0.0001013235,0.0002516761,0.0004258103,0.000006766176,0.000007649059,0.0004009156],"genre_scores_gemma":[0.997929,0.0009730661,0.0003546906,0.00007247588,0.0002530979,0.00003796723,0.00007255681,0.00002885734,0.0002783088],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1486539,"threshold_uncertainty_score":0.763762,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06016386159646431,"score_gpt":0.3273646291881707,"score_spread":0.2672007675917064,"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."}}