{"id":"W3138499736","doi":"10.1186/s13023-021-01923-0","title":"Essential list of medicinal products for rare diseases: recommendations from the IRDiRC Rare Disease Treatment Access Working Group","year":2021,"lang":"en","type":"article","venue":"Orphanet Journal of Rare Diseases","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadiana.org","funders":"National Human Genome Research Institute; Universitaire Ziekenhuizen Leuven, KU Leuven; Instituto de Salud Carlos III; National Institutes of Health; Institut National de la Santé et de la Recherche Médicale; European Commission","keywords":"Rare disease; Orphan drug; Disease; Reimbursement; Medicine; Government (linguistics); Marketing authorization; Essential medicines; Authorization; Business; Alternative medicine; Family medicine; Health care; Public health; Economic growth; Bioinformatics; 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":[0.02217587,0.001202377,0.001699242,0.01395879,0.002088809,0.005416704,0.003424474,0.005810826,0.01916757],"category_scores_gemma":[0.04479368,0.0007864161,0.00257879,0.009426106,0.001355007,0.004050766,0.003351164,0.005552194,0.01065616],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.003111003,"about_ca_system_score_gemma":0.03027074,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00755289,"about_ca_topic_score_gemma":0.009517391,"domain_scores_codex":[0.9852009,0.003877117,0.004475352,0.0005299859,0.005020146,0.0008964945],"domain_scores_gemma":[0.9279628,0.02056806,0.01161998,0.00251321,0.03070456,0.006631427],"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":[0.0003098939,0.0004989675,0.004868812,0.005571606,0.0001018303,0.0007498999,0.0002796995,0.0004267137,0.002319212,0.00889209,0.635277,0.3407043],"study_design_scores_gemma":[0.0001668773,0.0001582748,0.006730521,0.006497969,0.0001970046,0.0005046718,0.000242195,0.0002892912,0.0008620602,0.002918083,0.9813715,0.00006165512],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"other","genre_scores_codex":[0.01353569,0.1133437,0.04654942,0.4091614,0.01180933,0.01922037,0.07259414,0.004663652,0.3091222],"genre_scores_gemma":[0.0362829,0.1669875,0.4134532,0.1708074,0.006595567,0.01803926,0.1166219,0.001020605,0.07019171],"genre_candidate":"other","genre_consensus":null,"teacher_disagreement_score":0.02217587,"threshold_uncertainty_score":0.1172786,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01983560073219479,"score_gpt":0.2868550456500966,"score_spread":0.2670194449179017,"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."}}