{"id":"W3186769160","doi":"10.1101/2021.07.18.21260699","title":"Identification and validation of novel candidate risk genes in endocytic vesicular trafficking associated with esophageal atresia and tracheoesophageal fistulas","year":2021,"lang":"en","type":"preprint","venue":"medRxiv","topic":"Tracheal and airway disorders","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine","funders":"Cincinnati Children's Hospital Medical Center","keywords":"Biology; Genetics; Phenotype; Foregut; Gene; Penetrance; Tracheoesophageal fistula; Cilium; Atresia; Bioinformatics; Anatomy","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004133831,0.0003583008,0.0003914661,0.000591511,0.0002320098,0.0004227282,0.0002693412,0.000384534,0.002051044],"category_scores_gemma":[0.0009430359,0.0001206086,0.0007199249,0.0004831875,0.0001827508,0.0001019241,0.0002698604,0.0002410955,0.0002593407],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001778752,"about_ca_system_score_gemma":0.0003679009,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001257547,"about_ca_topic_score_gemma":0.0009395382,"domain_scores_codex":[0.9998459,0.00004712112,0.00001272578,0.00004468696,0.0000304498,0.00001917598],"domain_scores_gemma":[0.9997123,0.0001555005,0.00006020162,0.00001720813,0.00001643523,0.00003840628],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002186049,0.0002485976,0.6908615,0.0003479288,0.0007762572,0.009336952,0.000230337,0.0210692,0.2375524,0.002947692,0.001411777,0.03303144],"study_design_scores_gemma":[0.0003256199,0.0005861846,0.7513031,0.0001043314,0.0008102713,0.0122013,0.00039071,0.158479,0.06749959,0.00296597,0.005270666,0.00006336986],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.994031,0.0002658037,0.004391256,0.0000598414,0.00001443404,0.00001686401,0.0008583792,0.00006404745,0.0002982202],"genre_scores_gemma":[0.9936016,0.0001337002,0.004951152,0.00001991705,0.000006057419,0.00001250713,0.0009286537,0.00001824932,0.0003281445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002051044,"threshold_uncertainty_score":0.006861448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0146301367884179,"score_gpt":0.2518555582808206,"score_spread":0.2372254214924027,"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."}}