{"id":"W3097464242","doi":"10.1016/j.ymgme.2020.11.002","title":"The variability conundrum in neurometabolic degenerative diseases","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"ZonMw; Stichting Metakids","keywords":"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":[0.004387051,0.000359595,0.0009126563,0.002121246,0.0006081936,0.002160154,0.0009443981,0.0008261714,0.002633324],"category_scores_gemma":[0.0178358,0.0002475041,0.0004265891,0.001950583,0.001644673,0.001667871,0.002016539,0.001418815,0.0004357429],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004196185,"about_ca_system_score_gemma":0.0003234186,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008316598,"about_ca_topic_score_gemma":0.0007425481,"domain_scores_codex":[0.99501,0.001768214,0.0005341991,0.001359537,0.001127964,0.000199996],"domain_scores_gemma":[0.9882622,0.006536572,0.001530481,0.002433472,0.0008497196,0.0003874579],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001874329,0.0001502024,0.6937245,0.000359775,0.001349574,0.004521492,0.004499577,0.002367454,0.03366404,0.05745107,0.005400098,0.1946379],"study_design_scores_gemma":[0.00007948465,0.0003388514,0.6983873,0.0002582494,0.0003065966,0.02792915,0.001923244,0.004470076,0.01065539,0.2376451,0.01788608,0.0001204123],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9150013,0.01262713,0.04465041,0.00878753,0.000533449,0.00004522022,0.001970969,0.0003333961,0.01605054],"genre_scores_gemma":[0.9933873,0.001103308,0.002937012,0.0004635211,0.0003903514,0.00002326343,0.0003285428,0.0001237418,0.001243026],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.004387051,"threshold_uncertainty_score":0.02320123,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006235800513201605,"score_gpt":0.2181523817945005,"score_spread":0.2119165812812989,"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."}}