{"id":"W2462166100","doi":"10.1038/ejhg.2016.73","title":"Clinical utility gene card for: Aniridia","year":2016,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Forensic Entomology and Diptera Studies","field":"Agricultural and Biological Sciences","cited_by":24,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of British Columbia","funders":"Moorfields Eye Hospital NHS Foundation Trust; National Institute for Health and Care Research","keywords":"Aniridia; Genetics; Biology; Gene; Report card; Computational biology; Psychology","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":[0.0003520326,0.0005433453,0.000338212,0.000804681,0.0004024983,0.0008437049,0.000466755,0.001533887,0.05230254],"category_scores_gemma":[0.001876944,0.00009908184,0.0001916676,0.0003281654,0.0003273227,0.0004525175,0.0004123356,0.0007773431,0.01435665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002302739,"about_ca_system_score_gemma":0.0004318155,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006094969,"about_ca_topic_score_gemma":0.0006298475,"domain_scores_codex":[0.9997264,0.00006359939,0.00002719488,0.00006961179,0.00006836055,0.0000448104],"domain_scores_gemma":[0.9994448,0.0001575761,0.00006695424,0.00006229054,0.0001302476,0.0001381802],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001852763,0.0005059788,0.06833073,0.0005929488,0.00003223476,0.03160105,0.0002973883,0.000236926,0.02292188,0.004597713,0.4004009,0.4686294],"study_design_scores_gemma":[0.0006799515,0.001363021,0.09586812,0.001192078,0.0001198441,0.1451892,0.0005994928,0.003702282,0.02081717,0.007618456,0.7227421,0.0001083004],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"other","genre_gemma":"other","genre_scores_codex":[0.4124919,0.0122079,0.04117576,0.04215367,0.007455671,0.003004244,0.02527555,0.006603198,0.4496322],"genre_scores_gemma":[0.7499114,0.004197896,0.04854566,0.01859585,0.0020376,0.0007528164,0.0119291,0.0006582132,0.1633714],"genre_candidate":"other","genre_consensus":"other","teacher_disagreement_score":0.05230254,"threshold_uncertainty_score":0.1749694,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0815772893078763,"score_gpt":0.3060196301837333,"score_spread":0.224442340875857,"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."}}