{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000545594,0.0004457061,0.0004060231,0.0004899381,0.0005230311,0.000373768,0.0002462293,0.0005368118,0.001992538],"category_scores_gemma":[0.001476414,0.0001873253,0.0009306064,0.0006435387,0.0003434449,0.0001323514,0.0004193878,0.0005710647,0.0001523985],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002639475,"about_ca_system_score_gemma":0.0003405624,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005473314,"about_ca_topic_score_gemma":0.009721399,"domain_scores_codex":[0.9996144,0.00008661473,0.00003016019,0.0001420462,0.00006956662,0.00005719771],"domain_scores_gemma":[0.9994255,0.0001528783,0.0001349695,0.00008317226,0.00007450551,0.0001289603],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001249339,0.0001004752,0.9078059,0.0001037632,0.001292647,0.001932334,0.0002483623,0.000241146,0.07375978,0.000261804,0.0005832463,0.01242106],"study_design_scores_gemma":[0.0000539822,0.0002318116,0.9911856,0.00001618365,0.0005240054,0.001271297,0.00006753948,0.0003845062,0.004674052,0.00009764757,0.001481803,0.0000115321],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961839,0.0009447095,0.001378517,0.000117583,0.00002113095,0.00001627289,0.0006672049,0.00002652696,0.0006440994],"genre_scores_gemma":[0.997695,0.0002738,0.0009543773,0.00006324527,0.0000123801,0.00001189438,0.0005299978,0.00001009877,0.000449101],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005473314,"threshold_uncertainty_score":0.01088291,"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."}}