{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002994387,0.0001062922,0.0001297939,0.00004337519,0.00008467669,0.00008608529,0.0002466031,0.00005750559,0.000004992421],"category_scores_gemma":[0.0001392049,0.00008479423,0.00005907213,0.00008123704,0.0001637469,0.00002036323,0.0001549299,0.00006488002,0.000002782492],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005708981,"about_ca_system_score_gemma":0.0001945769,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002218763,"about_ca_topic_score_gemma":0.000008572895,"domain_scores_codex":[0.9990265,0.00003671807,0.0002429065,0.0003456853,0.0001472961,0.0002008897],"domain_scores_gemma":[0.9995297,0.00003373736,0.0000639843,0.0002258756,0.00002009909,0.0001265808],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005245629,0.000113742,0.9723804,0.00006461573,0.00002298818,0.000002627334,0.0001290995,0.02201756,0.0001893678,0.002929424,0.0005537127,0.001544029],"study_design_scores_gemma":[0.001455628,0.0004245662,0.8786957,0.0001760939,0.00004426768,0.000003959048,0.0006238401,0.08293487,0.0001502198,0.001373269,0.0333901,0.0007275161],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9908985,0.007433732,0.00009781706,0.0003930455,0.0005010542,0.0002191052,0.00001489454,0.000006681824,0.0004351336],"genre_scores_gemma":[0.9966013,0.001980163,0.00008599197,0.0003746446,0.0002022265,0.00001710842,0.00001406535,0.000006383505,0.000718093],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.09368471,"threshold_uncertainty_score":0.3457808,"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."}}