{"id":"W1838036188","doi":"10.1002/humu.22859","title":"Targeted Resequencing of 29 Candidate Genes and Mouse Expression Studies Implicate<i>ZIC3</i>and<i>FOXF1</i>in Human VATER/VACTERL Association","year":2015,"lang":"en","type":"article","venue":"Human Mutation","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":56,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Biology; Candidate gene; Tracheoesophageal fistula; Missense mutation; Genetics; Atresia; Mutation; Gene; 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":[],"consensus_categories":[],"category_scores_codex":[0.0004932277,0.0001159639,0.0003024379,0.000159244,0.000089418,0.00001169026,0.00003215091,0.00009744644,0.000005053642],"category_scores_gemma":[0.0001383775,0.00009862193,0.00002053136,0.0000888318,0.00005871903,0.0001355016,0.00004647478,0.000116183,0.000002102769],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001522722,"about_ca_system_score_gemma":0.00002497119,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003783832,"about_ca_topic_score_gemma":0.000280109,"domain_scores_codex":[0.9989871,0.0001013374,0.0003381791,0.0002318875,0.0001724718,0.0001690741],"domain_scores_gemma":[0.999341,0.00004766857,0.0002240075,0.0001203363,0.0001925673,0.00007446361],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00004986451,0.00003937662,0.09747384,0.0001283635,0.00002371128,0.00003820046,0.006364467,0.000006818218,0.8949206,0.000135769,0.0002098373,0.0006091112],"study_design_scores_gemma":[0.003718107,0.0006977151,0.401952,0.000201551,0.00009280209,0.00003974013,0.001624371,0.00009198779,0.5868803,0.004457092,0.00005921903,0.0001851864],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979361,0.00141866,0.00002626394,0.0002000695,0.00003908635,0.0002458846,0.000008279571,0.00003443993,0.00009125633],"genre_scores_gemma":[0.9989766,0.00008586072,0.0002815923,0.00008737604,0.00006842014,0.00002761675,0.0001110997,0.00001439022,0.0003469833],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3080404,"threshold_uncertainty_score":0.4021686,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05726034903050302,"score_gpt":0.3510639858799806,"score_spread":0.2938036368494775,"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."}}