{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0005000529,0.0004372869,0.0004414227,0.001614169,0.0007125129,0.0009118757,0.0003389787,0.0004623203,0.001399541],"category_scores_gemma":[0.004263068,0.0002578343,0.0003273227,0.0008347796,0.0004426278,0.0004758745,0.0006490045,0.0005135718,0.0003764193],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002193456,"about_ca_system_score_gemma":0.0003560294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001701786,"about_ca_topic_score_gemma":0.001240336,"domain_scores_codex":[0.9992241,0.0001396353,0.00008038098,0.0002110837,0.0002124216,0.0001324656],"domain_scores_gemma":[0.9978434,0.0006155263,0.0005690744,0.0001636964,0.0002709249,0.000537292],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006622389,0.00002999538,0.9905632,0.000005841148,0.00001720658,0.005640945,0.0001343916,0.0000705483,0.0009459999,0.00003539555,0.0001208153,0.002369429],"study_design_scores_gemma":[0.00001964287,0.0004110037,0.9289895,0.00002106173,0.00005029562,0.06663859,0.0008593386,0.0009005285,0.0009246548,0.0001235187,0.001040494,0.0000213595],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991484,0.0002180127,0.0001433563,0.00004024001,0.000006691245,0.000008514769,0.00008889134,0.000006228682,0.0003396797],"genre_scores_gemma":[0.9992517,0.0001731837,0.0002121151,0.00004256059,0.00002028794,0.000007244713,0.0001896957,0.000007177224,0.00009618545],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001701786,"threshold_uncertainty_score":0.004681945,"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."}}