{"id":"W3187991412","doi":"10.1002/ajmg.a.62447","title":"Exome survey of individuals affected by <scp>VATER</scp>/<scp>VACTERL</scp> with renal phenotypes identifies phenocopies and novel candidate genes","year":2021,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part A","topic":"Esophageal and GI Pathology","field":"Medicine","cited_by":14,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Deutsche Forschungsgemeinschaft; Canadian Institutes of Health Research; Canadian Society of Nephrology; National Human Genome Research Institute; Health Research Board; National Center for Advancing Translational Sciences; Foundation for the National Institutes of Health","keywords":"Exome sequencing; Tracheoesophageal fistula; Atresia; Phenotype; Medicine; Genetics; Phenocopy; Chromosomal region; Biology; Gene; Internal medicine; Chromosome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001390371,0.0003155168,0.001235217,0.0001889951,0.00007890761,0.00004874115,0.0002922698,0.0001677777,0.00005720928],"category_scores_gemma":[0.002431447,0.0002281659,0.0001059725,0.0005962424,0.001295229,0.00007009807,0.0001742728,0.0005512873,0.000004379579],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002197714,"about_ca_system_score_gemma":0.0006856819,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001781439,"about_ca_topic_score_gemma":0.0001743631,"domain_scores_codex":[0.9963421,0.0004392976,0.0009546165,0.0003602841,0.001386972,0.0005167203],"domain_scores_gemma":[0.9960688,0.001242195,0.0009399288,0.000304673,0.0007204298,0.000723928],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001500874,0.001429236,0.779102,0.0003761695,0.002265843,0.002343421,0.004994672,0.00002549325,0.1596775,0.00002587715,0.01565406,0.03395564],"study_design_scores_gemma":[0.004156688,0.004069978,0.9091439,0.0006411141,0.000627051,0.003978424,0.001957082,0.00005257013,0.06762168,0.00006158662,0.007573458,0.0001165176],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9849662,0.01259372,0.001398877,0.000440578,0.0002310924,0.0001366111,0.0001493353,0.00001439522,0.00006923517],"genre_scores_gemma":[0.9912516,0.004766785,0.002287587,0.0007007757,0.0002797754,0.000006891038,0.0001058827,0.00004735626,0.0005533571],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1300419,"threshold_uncertainty_score":0.9304337,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01588378596629019,"score_gpt":0.2740957438479689,"score_spread":0.2582119578816787,"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."}}