{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001476142,0.0006808696,0.001180696,0.002269204,0.0003418806,0.001547062,0.0009943476,0.001841172,0.0044035],"category_scores_gemma":[0.002752972,0.0002462953,0.0007946274,0.001982085,0.0008975989,0.001600394,0.000978855,0.003280073,0.002259788],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001033983,"about_ca_system_score_gemma":0.001747261,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00130496,"about_ca_topic_score_gemma":0.00210496,"domain_scores_codex":[0.999436,0.0001850819,0.0000797354,0.00006942148,0.000185042,0.00004483184],"domain_scores_gemma":[0.9982722,0.001281244,0.0001034252,0.00003937359,0.0002392146,0.00006462044],"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":[0.00003988959,0.00005393758,0.0001711472,0.01189155,0.0001293408,0.0001450845,0.00007203597,0.000485,0.0003241778,0.0132096,0.03950766,0.9339706],"study_design_scores_gemma":[0.00001599103,0.00006396319,0.0005936887,0.007712911,0.0001111974,0.0007817303,0.00006039476,0.0002182237,0.0002300295,0.01327034,0.9769161,0.00002536735],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006113303,0.9964995,0.0003020568,0.001366935,0.0003851776,0.000006948183,0.00001489387,0.000009800489,0.00135361],"genre_scores_gemma":[0.0006974121,0.9972497,0.0003860315,0.0007830315,0.0004429433,0.00001256434,0.00002652494,0.000002402632,0.0003994003],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.0044035,"threshold_uncertainty_score":0.01473117,"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."}}