{"id":"W2753176996","doi":"10.1534/genetics.117.203067","title":"Model Organisms Facilitate Rare Disease Diagnosis and Therapeutic Research","year":2017,"lang":"en","type":"review","venue":"Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":218,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; University of Ottawa; Canada's Michael Smith Genome Sciences Centre; Children's Hospital of Eastern Ontario; University of British Columbia","funders":"National Institute of General Medical Sciences; National Institute of Neurological Disorders and Stroke; National Human Genome Research Institute; National Institutes of Health; Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Organization for Rare Disorders","keywords":"Model organism; Biology; Organism; Disease; Mendelian inheritance; Function (biology); Genomics; Computational biology; Genetics; Human disease; Gene; Genome; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002483725,0.0003867424,0.000573037,0.00009520348,0.0003729279,0.0001592416,0.0006333063,0.0003274743,0.00001517807],"category_scores_gemma":[0.0001175639,0.0003272144,0.0002809241,0.00005472304,0.0002827664,0.000001331628,0.0006321049,0.0002274068,0.00003869019],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002255759,"about_ca_system_score_gemma":0.0007061645,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003333662,"about_ca_topic_score_gemma":0.00001264621,"domain_scores_codex":[0.9980953,0.0001742533,0.0003017503,0.0007401002,0.0002316721,0.0004569073],"domain_scores_gemma":[0.9980473,0.00003426944,0.0001326374,0.001249572,0.0001591633,0.0003770931],"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":[0.00001593248,0.00009088038,0.00008677134,0.004487546,0.0002460758,0.00004345451,0.00003699075,0.00004451561,0.00008099873,0.00004492274,0.002994737,0.9918272],"study_design_scores_gemma":[0.0001219196,0.00008296018,0.00002847408,0.0005259566,0.0003577659,0.00001091963,0.00001212643,0.00007746325,0.00002148556,0.000481335,0.9978771,0.0004025344],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001398557,0.996563,0.00004274856,0.00003684595,0.00009590916,0.0006775496,0.001039903,0.000008646142,0.0001368327],"genre_scores_gemma":[0.003162019,0.9938691,0.0001769321,0.00004907971,0.0002209867,0.0002499008,0.000557572,0.00009382444,0.001620645],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9948823,"threshold_uncertainty_score":0.999918,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.3163794699141524,"score_gpt":0.4276265023436686,"score_spread":0.1112470324295162,"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."}}