{"id":"W4386271361","doi":"10.1111/cts.13619","title":"Artificial intelligence in rare disease diagnosis and treatment","year":2023,"lang":"en","type":"review","venue":"Clinical and Translational Science","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":150,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University","funders":"","keywords":"Computer science; Artificial intelligence; Machine learning; Disease; Rare disease; Data science; Medicine; Pathology","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":[0.0002715209,0.0001428297,0.0003003434,0.00006294475,0.00009373414,0.00004082773,0.0001239922,0.00009116404,0.00000610969],"category_scores_gemma":[0.0001286084,0.000103766,0.0001373489,0.0001894168,0.0006069097,0.000004010233,0.00005319169,0.00005898473,0.000006878599],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004217122,"about_ca_system_score_gemma":0.0004178942,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000006796554,"about_ca_topic_score_gemma":0.00005126415,"domain_scores_codex":[0.998775,0.00004294227,0.0003983487,0.0005341719,0.0001012623,0.0001482741],"domain_scores_gemma":[0.9994521,0.0001294159,0.00005353108,0.0001217065,0.000021702,0.0002215244],"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":[0.00001177889,0.0000831098,0.002301424,0.0001999701,0.00001287899,0.00001339038,0.000005829396,0.000003552383,4.226462e-7,0.0005602505,0.000003684266,0.9968037],"study_design_scores_gemma":[0.0002390841,0.0004475939,0.04737062,0.002293625,0.0004674715,0.00001582178,0.00002553143,0.0002816616,0.000007547583,0.0128391,0.9351223,0.0008896102],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.006954712,0.9922367,0.00003102042,0.0001236997,0.0001087493,0.00030609,0.0002106283,0.000004552982,0.00002380613],"genre_scores_gemma":[0.01322397,0.986308,0.00007219636,0.00002343092,0.0001465414,0.00007214694,0.0001176118,0.00000829517,0.0000278574],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9959141,"threshold_uncertainty_score":0.4231453,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1893148880284033,"score_gpt":0.4447426205969627,"score_spread":0.2554277325685593,"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."}}