{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004623223,0.0004746857,0.000490775,0.000923441,0.0002413025,0.0004942663,0.0002807198,0.0006736391,0.001027897],"category_scores_gemma":[0.001796012,0.0001403172,0.0003122774,0.0006842796,0.0003355291,0.0001969671,0.0004525408,0.000391339,0.0001765173],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001327995,"about_ca_system_score_gemma":0.0001179688,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005083292,"about_ca_topic_score_gemma":0.0008841201,"domain_scores_codex":[0.9995461,0.00006843825,0.00004458567,0.0001803195,0.0001257314,0.00003486654],"domain_scores_gemma":[0.9991529,0.000446518,0.000234536,0.00005338214,0.00005410961,0.00005856812],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001289278,0.0001068394,0.7292744,0.0003295823,0.000855362,0.0128599,0.0003672521,0.001361793,0.2069711,0.0003546569,0.001172905,0.04505701],"study_design_scores_gemma":[0.00009134087,0.0002517977,0.9553747,0.00007684736,0.0004288299,0.02555356,0.0001945183,0.002126395,0.01357568,0.0006322518,0.00167626,0.00001790867],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976507,0.0008064771,0.0007876361,0.00006279669,0.000008184076,0.000006754417,0.0004685261,0.00002097384,0.0001879939],"genre_scores_gemma":[0.9970988,0.0005284571,0.001272253,0.0000819918,0.000020117,0.000009710991,0.0007759597,0.00001083414,0.0002018846],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001027897,"threshold_uncertainty_score":0.003438711,"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."}}