{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001108747,0.0003153338,0.0002231864,0.000944507,0.0004392693,0.0002493383,0.0001559284,0.0004253934,0.003421702],"category_scores_gemma":[0.0004780432,0.00009004,0.0003095711,0.0005861662,0.0001708467,0.0001008691,0.0004056368,0.0002110552,0.0003538384],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001147619,"about_ca_system_score_gemma":0.00007533925,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001557813,"about_ca_topic_score_gemma":0.002001375,"domain_scores_codex":[0.9998451,0.00001940352,0.00001833668,0.00006524855,0.00002725885,0.00002457063],"domain_scores_gemma":[0.9998447,0.00005344009,0.00004101784,0.00001415938,0.00001830124,0.00002840218],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001521841,0.0001456474,0.581845,0.0002072102,0.0003832544,0.03390087,0.001117659,0.0006095147,0.3398348,0.00029395,0.0019909,0.03814931],"study_design_scores_gemma":[0.00003430101,0.0002147267,0.9491187,0.00003691501,0.0001175544,0.03394824,0.0003914205,0.0007370361,0.01111387,0.0001062968,0.004163599,0.00001741119],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974422,0.000191335,0.0004517418,0.00003612847,0.000004354766,0.00001263541,0.001323587,0.00001077111,0.0005271097],"genre_scores_gemma":[0.995488,0.0002207687,0.0006386839,0.00007478583,0.000007485807,0.00001806508,0.002616464,0.000008579426,0.0009272296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003421702,"threshold_uncertainty_score":0.01144671,"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."}}