{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002366879,0.001065347,0.001519518,0.002915559,0.0005257995,0.002166503,0.001654119,0.002954331,0.006234573],"category_scores_gemma":[0.002441268,0.0004667455,0.0008511328,0.001712788,0.001463784,0.002887642,0.001751235,0.004086059,0.003429035],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001842286,"about_ca_system_score_gemma":0.002147071,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001720337,"about_ca_topic_score_gemma":0.002605852,"domain_scores_codex":[0.9992326,0.0002275591,0.00009184211,0.0001076218,0.000267471,0.00007286917],"domain_scores_gemma":[0.9985543,0.0008382794,0.0001227323,0.00008179916,0.0002950863,0.0001078161],"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":[0.0001139374,0.00007723889,0.0003776082,0.01672163,0.0001229387,0.0006498804,0.0001683276,0.0007161803,0.004206643,0.05521076,0.08103036,0.8406045],"study_design_scores_gemma":[0.000007750492,0.0000201996,0.0001611056,0.001385627,0.00003732956,0.0006282381,0.00002770565,0.00007113482,0.0005862196,0.004038436,0.9930239,0.00001232044],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0001383893,0.9925973,0.001053561,0.00183112,0.0008153493,0.00001450024,0.00006335095,0.00003821639,0.003448141],"genre_scores_gemma":[0.001437756,0.9944056,0.001284991,0.0008564887,0.0004823972,0.00002184269,0.0001065718,0.00001143684,0.001392824],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006234573,"threshold_uncertainty_score":0.0208568,"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."}}