{"id":"W2921051642","doi":"10.1042/etls20180057","title":"Model systems inform rare disease diagnosis, therapeutic discovery and pre-clinical efficacy","year":2019,"lang":"en","type":"article","venue":"Emerging Topics in Life Sciences","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Disease; Model organism; Drug discovery; Genome editing; Drug development; Computational biology; Biology; Organism; Intervention (counseling); Medicine; Bioinformatics; Intensive care medicine; Genome; Drug; Genetics; Gene; Pathology; Pharmacology; Psychiatry","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":[0.01316647,0.001090705,0.00173553,0.001427692,0.0007822523,0.004423924,0.001402464,0.002965171,0.01015137],"category_scores_gemma":[0.0136513,0.000623252,0.001113252,0.0005636581,0.002333648,0.003020631,0.002836723,0.003412599,0.003118177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002443706,"about_ca_system_score_gemma":0.003155797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001552508,"about_ca_topic_score_gemma":0.001906101,"domain_scores_codex":[0.995473,0.002752805,0.00028566,0.0004016077,0.0008931141,0.0001939074],"domain_scores_gemma":[0.9917687,0.004234374,0.001013523,0.001350795,0.001044093,0.0005885189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.004297649,0.001376995,0.02701281,0.005721546,0.001033235,0.002293218,0.0007090113,0.02613214,0.1858523,0.2300919,0.07470161,0.4407776],"study_design_scores_gemma":[0.00110189,0.007669331,0.01277179,0.003812164,0.001932058,0.004939192,0.0007729289,0.0223777,0.09376822,0.1696836,0.6808133,0.0003578288],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"methods","genre_gemma":"review","genre_scores_codex":[0.110211,0.1728763,0.5274156,0.07491339,0.007873775,0.003348316,0.01222457,0.004341028,0.08679602],"genre_scores_gemma":[0.5485249,0.1170726,0.2882787,0.01477383,0.00174394,0.004342658,0.008375218,0.001008291,0.01587992],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.01316647,"threshold_uncertainty_score":0.06963181,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03268222671502526,"score_gpt":0.3285484351214252,"score_spread":0.2958662084063999,"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."}}