{"id":"W3160119692","doi":"","title":"Whole Exome Sequencing of Unknown Retinal Disease Cases: The Alberta Perspective","year":2019,"lang":"en","type":"article","venue":"","topic":"Retinal Development and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Exome sequencing; Exome; Perspective (graphical); Retinal; Disease; Computational biology; Biology; Medicine; Genetics; Ophthalmology; Pathology; Computer science; Mutation; Artificial intelligence; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.003886944,0.0009671689,0.001131729,0.003301487,0.0008079354,0.002481029,0.001851367,0.003608417,0.00586778],"category_scores_gemma":[0.005736904,0.0003742686,0.0005787571,0.002221206,0.001353834,0.001748306,0.001542663,0.002685644,0.001006593],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.005110433,"about_ca_system_score_gemma":0.00735637,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1822336,"about_ca_topic_score_gemma":0.2727012,"domain_scores_codex":[0.9991527,0.0001584552,0.00009050519,0.0001789771,0.0002644663,0.000154931],"domain_scores_gemma":[0.993054,0.001891088,0.000323936,0.000297019,0.003352457,0.001081635],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.001600167,0.000216343,0.05155301,0.00187572,0.001252947,0.01591977,0.001081971,0.004173374,0.0220702,0.04010121,0.2288698,0.6312855],"study_design_scores_gemma":[0.0002875555,0.0003200094,0.1759175,0.005754092,0.001553103,0.01352397,0.002105596,0.002434133,0.002948513,0.05144725,0.7434807,0.0002274916],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.09373648,0.4207695,0.01935191,0.3467026,0.01075188,0.00009871439,0.01602332,0.0007966611,0.09176883],"genre_scores_gemma":[0.3443753,0.4920314,0.02986041,0.08828139,0.02163118,0.00007641704,0.006665391,0.000462691,0.01661583],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.1822336,"threshold_uncertainty_score":0.3623457,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008067722001044034,"score_gpt":0.2375011881515409,"score_spread":0.2294334661504969,"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."}}