{"id":"W2898006699","doi":"10.1016/j.ejmg.2018.10.005","title":"Triple surveillance: The future for birth defect registries","year":2018,"lang":"en","type":"letter","venue":"European Journal of Medical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Health Services; University of Calgary; Alberta Children's Hospital","funders":"","keywords":"Joubert syndrome; Hypotonia; Polydactyly; Exome sequencing; Sanger sequencing; Microcephaly; Genetics; Compound heterozygosity; Ataxia; Medicine; Biology; Mutation; Gene; Neuroscience","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":[0.01515321,0.0005026205,0.001317055,0.001467343,0.001653167,0.004575473,0.002607641,0.02261379,0.01609613],"category_scores_gemma":[0.04114525,0.0005400358,0.001292751,0.001022253,0.00245381,0.0137057,0.004247298,0.02207682,0.002965268],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003523494,"about_ca_system_score_gemma":0.00675723,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003170382,"about_ca_topic_score_gemma":0.004435197,"domain_scores_codex":[0.9913768,0.00430559,0.001030321,0.001002376,0.001335039,0.0009498604],"domain_scores_gemma":[0.9303124,0.03716422,0.004876508,0.002852483,0.009068228,0.01572622],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0002278186,0.0001727031,0.008565993,0.0003548356,0.00005447193,0.001595729,0.0003885502,0.0003063522,0.0004824594,0.02669973,0.8239864,0.1371649],"study_design_scores_gemma":[0.0005332322,0.0002377726,0.01068098,0.004879746,0.0001151366,0.004516681,0.002121338,0.00285913,0.0003018295,0.09716346,0.8764086,0.0001820556],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.001170348,0.008466556,0.001177151,0.9804766,0.005685882,0.00001667229,0.0001697436,0.00007432358,0.002762764],"genre_scores_gemma":[0.04105418,0.02734757,0.009143664,0.829145,0.0865273,0.0002252699,0.0009290689,0.0001218744,0.005506195],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.02261379,"threshold_uncertainty_score":0.0801388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01167928621865051,"score_gpt":0.2513353277147893,"score_spread":0.2396560414961388,"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."}}