{"id":"W2611355347","doi":"10.1161/circgenetics.116.001581","title":"Use of Clinical Exome Sequencing in Isolated Congenital Heart Disease","year":2017,"lang":"en","type":"article","venue":"Circulation Cardiovascular Genetics","topic":"Congenital heart defects research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto; Hospital for Sick Children","funders":"","keywords":"Exome sequencing; Heart disease; Exome; Medicine; Computational biology; DNA sequencing; Disease; Biology; Genetics; Internal medicine; Mutation; Gene","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":[0.0008688993,0.0001700602,0.00041434,0.00009555885,0.0001375775,0.00009585846,0.0002729409,0.0002174533,0.00001100745],"category_scores_gemma":[0.001450132,0.0001930176,0.0007250688,0.00009333713,0.0002445176,0.00001969367,0.0002669051,0.0001725013,0.00001549309],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003523384,"about_ca_system_score_gemma":0.0003873717,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001022305,"about_ca_topic_score_gemma":0.00006505768,"domain_scores_codex":[0.9978527,0.0003143312,0.0005645533,0.000525112,0.000438839,0.0003044873],"domain_scores_gemma":[0.9974509,0.00004886323,0.0001227419,0.001844327,0.0003135602,0.0002196038],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000175467,0.00005817053,0.9111049,0.00007004176,0.0006131509,0.00006490629,0.00002658432,0.0217513,0.05585438,0.00001132933,0.00004820803,0.01022154],"study_design_scores_gemma":[0.00090507,0.00008833907,0.975345,0.00002479225,0.0001078539,0.0000217896,0.00001119232,0.01420932,0.003278447,0.00004904884,0.005697176,0.0002619521],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937705,0.003392639,0.001931277,0.00002831793,0.0002366844,0.0004742836,0.00003177387,0.000009668098,0.000124881],"genre_scores_gemma":[0.9987839,0.0002841582,0.0004798587,0.00003873867,0.0002278117,0.00001660399,0.00005693849,0.00003748107,0.00007452838],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06424008,"threshold_uncertainty_score":0.787103,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.115203190668198,"score_gpt":0.3620185505848256,"score_spread":0.2468153599166276,"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."}}