{"id":"W2998775105","doi":"10.1016/j.ymgme.2020.01.004","title":"The Undiagnosed Diseases Network International: Five years and more!","year":2020,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":43,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University","funders":"","keywords":"Medical diagnosis; Disease; Medicine; Rare disease; Etiology; Scale (ratio); Intensive care medicine; Translational research; Family medicine; Pathology","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":[0.008181163,0.00188993,0.002178928,0.002678092,0.00196546,0.01017235,0.002344772,0.01282887,0.07825346],"category_scores_gemma":[0.01703703,0.0008290653,0.002274658,0.002054834,0.001951876,0.01058873,0.009029777,0.01266388,0.04678708],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002285742,"about_ca_system_score_gemma":0.009858519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00751008,"about_ca_topic_score_gemma":0.01101514,"domain_scores_codex":[0.9943322,0.001085638,0.0004260298,0.0005601133,0.001971871,0.001624176],"domain_scores_gemma":[0.9719986,0.00225208,0.001981855,0.001351942,0.005869928,0.01654559],"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":[0.00006772109,0.00004174683,0.0005712173,0.00008820552,0.00001199924,0.00005624115,0.00002344238,0.00002041351,0.00006297143,0.0007945984,0.9735021,0.02475939],"study_design_scores_gemma":[0.00009366142,0.00006705539,0.003502145,0.0005997581,0.0000324285,0.0002074328,0.0002624033,0.00007193395,0.00004578631,0.001818279,0.9932579,0.00004120872],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"editorial","genre_scores_codex":[0.00111424,0.04916915,0.001070983,0.6987447,0.2213115,0.0000843363,0.002829507,0.000570897,0.02510452],"genre_scores_gemma":[0.01367803,0.04954061,0.00606117,0.5800075,0.1496088,0.0005480828,0.01302683,0.0007086092,0.1868204],"genre_candidate":"editorial","genre_consensus":null,"teacher_disagreement_score":0.07825346,"threshold_uncertainty_score":0.2617839,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004239385888161203,"score_gpt":0.2175182637830141,"score_spread":0.2132788778948529,"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."}}