{"id":"W4377220342","doi":"10.1111/joim.13655","title":"Precision medicine in rare diseases: What is next?","year":2023,"lang":"en","type":"review","venue":"Journal of Internal Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Precision medicine; Medicine; Repurposing; Personalized medicine; Molecular diagnostics; Multidisciplinary approach; Genomics; Bioinformatics; Intensive care medicine; Genetics; Genome; Pathology; Biology","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":[0.0005506392,0.0004105867,0.001789712,0.0005380925,0.00002670828,0.00004037058,0.0007565342,0.0002695832,0.0002274871],"category_scores_gemma":[0.000807129,0.0002392305,0.0005451483,0.0002539799,0.0001545058,0.00001976008,0.0001973026,0.0004410559,0.00002241027],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007904392,"about_ca_system_score_gemma":0.0003049297,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003560515,"about_ca_topic_score_gemma":0.00001185284,"domain_scores_codex":[0.997099,0.0001514315,0.001662218,0.0003417365,0.0004862137,0.0002593537],"domain_scores_gemma":[0.9976595,0.0001407264,0.001233564,0.0003778746,0.0002568935,0.000331422],"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":[0.0002104569,0.0000873414,0.00006767535,0.004220601,0.000480333,0.001339299,0.0001501337,0.000001845689,0.00008411974,0.000004646397,0.06278685,0.9305667],"study_design_scores_gemma":[0.0009806188,0.001170879,0.0000531037,0.09703574,0.0006759545,0.0008406328,0.0005164926,0.000002927432,0.000006733987,0.0001271149,0.8983819,0.0002078508],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0005954413,0.9961488,0.00003443359,0.0004548882,0.002380115,0.0002439563,0.00003011625,0.000003815404,0.0001083964],"genre_scores_gemma":[0.000256358,0.9940752,0.00001604068,0.0006297863,0.004059341,0.000008765983,0.00009752095,0.00006859327,0.0007883367],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9303588,"threshold_uncertainty_score":0.9755538,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03386800255962314,"score_gpt":0.3602212678234836,"score_spread":0.3263532652638605,"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."}}