{"id":"W4207038128","doi":"10.1016/j.xhgg.2022.100093","title":"First genome-wide association study of esophageal atresia identifies three genetic risk loci at CTNNA3, FOXF1/FOXC2/FOXL1, and HNF1B","year":2022,"lang":"en","type":"article","venue":"Human Genetics and Genomics Advances","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"Heinz Nixdorf Stiftung; Deutsche Krebshilfe; Shire; Deutsche Forschungsgemeinschaft; Stichting Wetenschappelijk Onderzoek Oogziekenhuis; Else Kröner-Fresenius-Stiftung; Klarman Family Foundation","keywords":"Genome-wide association study; Biology; Genetics; Single-nucleotide polymorphism; Tracheoesophageal fistula; Odds ratio; Genetic architecture; Atresia; Candidate gene; Heritability; Gene; Genotype; Quantitative trait locus; Medicine; Internal medicine; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0003750786,0.000250105,0.0005102809,0.0001524883,0.0008952963,0.00003259345,0.0001587971,0.00007852698,0.0001306158],"category_scores_gemma":[0.00004510294,0.0002562512,0.00007571076,0.0001239236,0.0001332605,0.00004023368,0.0005328073,0.0002505087,0.000004273104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001689462,"about_ca_system_score_gemma":0.0000306373,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007049792,"about_ca_topic_score_gemma":0.002152393,"domain_scores_codex":[0.9981061,0.0001131579,0.0005526212,0.0005431272,0.0003450948,0.0003399439],"domain_scores_gemma":[0.9987816,0.0001731351,0.0004796125,0.0003480424,0.00008523731,0.0001324092],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001057328,0.0002773288,0.9913102,0.0001132308,0.0001467935,0.00008536003,0.002815414,0.002057437,0.001079396,0.00002367084,0.0001045757,0.001880799],"study_design_scores_gemma":[0.002148857,0.001896909,0.985967,0.000005759177,0.0003272478,0.00002946434,0.001141956,0.0002692121,0.0001645191,0.00300417,0.004825325,0.0002195535],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9512603,0.04750889,0.00004641381,0.0001204184,0.0001428382,0.00068847,0.00009682749,0.00002125379,0.0001146163],"genre_scores_gemma":[0.9925388,0.005688912,0.0005255198,0.0001330605,0.0001495436,0.00005799091,0.00004525874,0.00003958883,0.0008214009],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04181997,"threshold_uncertainty_score":0.999989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01114852444835079,"score_gpt":0.2491013769207377,"score_spread":0.2379528524723869,"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."}}