{"id":"W4388536081","doi":"10.2217/frd-2023-0013","title":"Plain language summary of a study looking at whether genetic testing can help doctors diagnose the severity of mucopolysaccharidosis type I (MPS I)","year":2023,"lang":"en","type":"article","venue":"Future Rare Diseases","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"","keywords":"Mucopolysaccharidosis type I; Enzyme replacement therapy; Phenotype; Missense mutation; Genotype; Gene; Genetics; Mucopolysaccharidosis I; Disease; Genotype-phenotype distinction; Enzyme; Biology; Medicine; Biochemistry; Internal medicine","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":[0.003696214,0.0009048394,0.001803693,0.00255723,0.001263405,0.002340344,0.001145111,0.002722131,0.1779704],"category_scores_gemma":[0.0734186,0.0003734088,0.00139357,0.004307103,0.0007009853,0.002716084,0.001244945,0.002228461,0.04678453],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001937014,"about_ca_system_score_gemma":0.004034595,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01327552,"about_ca_topic_score_gemma":0.01019417,"domain_scores_codex":[0.9933894,0.002647188,0.002048538,0.0005849775,0.00100769,0.0003222721],"domain_scores_gemma":[0.9448716,0.03198762,0.005735807,0.001332707,0.01411397,0.00195824],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.0003963737,0.00003927717,0.002886426,0.004485478,0.00005627498,0.0003131208,0.0001766237,0.00003673822,0.00009478629,0.0005655081,0.9764716,0.01447774],"study_design_scores_gemma":[0.001033457,0.0004546111,0.03871069,0.02300724,0.000278875,0.001736821,0.002553388,0.0001952355,0.0002755135,0.002287275,0.9293187,0.0001481378],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.01163888,0.03190469,0.003015458,0.2451658,0.05493377,0.00337407,0.5053424,0.00122563,0.1433994],"genre_scores_gemma":[0.09975731,0.05955775,0.01108282,0.4194943,0.05953937,0.01765108,0.1829616,0.001950181,0.1480055],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.1779704,"threshold_uncertainty_score":0.5953702,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02026119448871626,"score_gpt":0.300552782468921,"score_spread":0.2802915879802047,"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."}}