{"id":"W3158368208","doi":"10.1186/s13023-021-01953-8","title":"The LORIS MyeliNeuroGene rare disease database for natural history studies and clinical trial readiness","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":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill Genome Centre; Montreal Neurological Institute and Hospital; McGill University; McGill University Health Centre","funders":"","keywords":"Clinical trial; Natural history; Medicine; Natural history study; Clinical study design; Disease; Pathology; 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":[0.02708067,0.000793486,0.002417064,0.007922961,0.0009053507,0.005596051,0.003006186,0.002163403,0.1816557],"category_scores_gemma":[0.1133401,0.0009669496,0.001157286,0.009270496,0.000557504,0.004025497,0.004500306,0.002044047,0.06722832],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002196818,"about_ca_system_score_gemma":0.01091758,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140335,"about_ca_topic_score_gemma":0.002626986,"domain_scores_codex":[0.9838128,0.00615562,0.006183233,0.001395793,0.001990173,0.0004624431],"domain_scores_gemma":[0.8831415,0.05204643,0.0210204,0.02088092,0.01338556,0.009525206],"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":[0.002564656,0.0001308685,0.004786841,0.006427533,0.0003750779,0.000249128,0.0002005522,0.0005238205,0.0005428276,0.009842283,0.8574026,0.1169539],"study_design_scores_gemma":[0.004476148,0.0002307496,0.009743429,0.003563769,0.0004124304,0.0004400308,0.0001102244,0.001234209,0.000939826,0.01304012,0.9656862,0.0001229263],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"dataset","genre_gemma":"software","genre_scores_codex":[0.003222033,0.002677008,0.01805457,0.008956081,0.0005723766,0.007694482,0.8953559,0.01129778,0.0521697],"genre_scores_gemma":[0.02843582,0.004057158,0.07400012,0.008046526,0.001180762,0.03638244,0.82281,0.003462706,0.02162442],"genre_candidate":"software","genre_consensus":null,"teacher_disagreement_score":0.1816557,"threshold_uncertainty_score":0.6076987,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03873933414663061,"score_gpt":0.3296612616070282,"score_spread":0.2909219274603976,"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."}}