{"id":"W2626674785","doi":"10.1159/000477429","title":"Genetic Testing in a Cohort of Complex Esophageal Atresia","year":2017,"lang":"en","type":"article","venue":"Molecular Syndromology","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Exome sequencing; Cohort; Genetic testing; Atresia; Fanconi anemia; Exome; Internal medicine; Genetics; Pediatrics; Biology; Mutation; Gene","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":[0.0001867923,0.0001434949,0.0005342351,0.0001358305,0.00007090584,0.000006972916,0.0002417196,0.0001666382,0.0001050618],"category_scores_gemma":[0.0004423599,0.0001391506,0.00007906021,0.00008130047,0.0003468756,0.00002158947,0.0001492346,0.0001955801,0.00004304676],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002342127,"about_ca_system_score_gemma":0.0000681759,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003597705,"about_ca_topic_score_gemma":0.00002940755,"domain_scores_codex":[0.9987864,0.0001027441,0.0003390921,0.0003236795,0.0001288246,0.0003192346],"domain_scores_gemma":[0.9989098,0.00005118701,0.0001785043,0.0007024827,0.00006987361,0.00008813715],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004112456,0.0001274392,0.8464933,0.00008105295,0.00004302038,0.1133934,0.00004262509,0.0000162475,0.03681804,0.0004645581,0.00002889652,0.002450315],"study_design_scores_gemma":[0.001169121,0.0005512135,0.9703045,0.00004130066,0.00006267743,0.02500336,0.000003485278,0.000437305,0.001450691,0.0008650259,0.00002119867,0.00009008116],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923645,0.0003778345,0.0004527233,0.0003446586,0.00008254244,0.0002957192,0.000003896417,0.00002143445,0.006056746],"genre_scores_gemma":[0.9902645,0.000004309,0.009196036,0.0002843047,0.00002647408,0.00001895067,0.000008262039,0.00002138503,0.0001757255],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1238112,"threshold_uncertainty_score":0.5674397,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03130404153812129,"score_gpt":0.3013190166206711,"score_spread":0.2700149750825498,"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."}}