{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.05468407,0.002046,0.006561436,0.004471098,0.004254688,0.01542853,0.004544787,0.01498391,0.01135191],"category_scores_gemma":[0.07729392,0.001173587,0.003553764,0.003525183,0.01167699,0.02797414,0.007975501,0.0227273,0.006567543],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.006155926,"about_ca_system_score_gemma":0.01887582,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004963714,"about_ca_topic_score_gemma":0.007009787,"domain_scores_codex":[0.9720954,0.01362953,0.002937242,0.002888821,0.006803293,0.001645715],"domain_scores_gemma":[0.8486956,0.09587319,0.005039809,0.00798542,0.03043141,0.01197447],"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":[0.0004166897,0.0001233821,0.002013978,0.009213,0.0004961228,0.0007380409,0.0008723935,0.00064911,0.0009405458,0.05393003,0.2844751,0.6461316],"study_design_scores_gemma":[0.00008256768,0.0001646041,0.001229794,0.01543891,0.0002824812,0.001158218,0.001217971,0.0005938357,0.0003620029,0.1179508,0.8613245,0.0001942545],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0004048458,0.5607907,0.007766659,0.4041502,0.0219482,0.00005797619,0.0003099969,0.0003845961,0.004186892],"genre_scores_gemma":[0.01398719,0.6987786,0.02400252,0.2030403,0.05595285,0.00025605,0.0006594959,0.0002377856,0.003085245],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.05468407,"threshold_uncertainty_score":0.2892005,"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."}}