{"id":"W1985941121","doi":"10.1534/genetics.114.170217","title":"Understanding Rare Disease Pathogenesis: A Grand Challenge for Model Organisms","year":2014,"lang":"en","type":"letter","venue":"Genetics","topic":"CRISPR and Genetic Engineering","field":"Biochemistry, Genetics and Molecular Biology","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Ottawa; Canada's Michael Smith Genome Sciences Centre; Children's Hospital of Eastern Ontario; University of British Columbia","funders":"","keywords":"Biology; Genetics; Pathogenesis; Disease; Evolutionary biology; Immunology; Pathology; 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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001146483,0.0004827382,0.0003372478,0.00008227536,0.0001342297,0.0000569592,0.0003768898,0.0007964309,0.000008749132],"category_scores_gemma":[0.00004136601,0.0005154217,0.000278454,0.00005107695,0.0000583623,0.000001261153,0.0001315678,0.0002791956,0.000005991062],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004344227,"about_ca_system_score_gemma":0.0001477047,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":3.802388e-7,"about_ca_topic_score_gemma":0.000007462446,"domain_scores_codex":[0.9980941,0.00003510186,0.0003092387,0.0007390973,0.0002379349,0.0005845049],"domain_scores_gemma":[0.9988208,0.00002249777,0.0001049949,0.0007907666,0.00009205182,0.0001689027],"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":[0.0000574052,0.0000297402,0.00002725731,0.0008182196,0.0001751575,0.00003153237,0.00006969136,0.01927123,0.02727121,0.00005570583,0.9518222,0.0003706321],"study_design_scores_gemma":[0.001085384,0.0002944927,0.00001100611,0.00008740312,0.0003881221,0.00001587823,0.0000287406,0.01763044,0.009478917,0.00239541,0.9673855,0.001198656],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"methods","genre_gemma":"commentary","genre_scores_codex":[0.00079844,0.006283587,0.9475733,0.04332143,0.0004547402,0.0007824666,0.0005148008,0.00005140677,0.0002198376],"genre_scores_gemma":[0.4236354,0.01030145,0.04310051,0.4687513,0.02899325,0.001107513,0.01433557,0.001734457,0.008040617],"genre_candidate":"methods","genre_consensus":null,"teacher_disagreement_score":0.9044728,"threshold_uncertainty_score":0.9997298,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.057943900059833,"score_gpt":0.2857735873205498,"score_spread":0.2278296872607168,"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."}}