{"id":"W4315699917","doi":"10.3390/genes14010196","title":"The Power of Clinical Diagnosis for Deciphering Complex Genetic Mechanisms in Rare Diseases","year":2023,"lang":"en","type":"review","venue":"Genes","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Complex disease; Clinical phenotype; Disease; Phenotype; Genetic testing; Computational biology; Bioinformatics; Biology; Clinical diagnosis; Medicine; Gene; Genetics; Intensive care 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":[0.001808792,0.001207135,0.001857022,0.003425548,0.0002868571,0.001634678,0.00128508,0.001898109,0.003236428],"category_scores_gemma":[0.002449199,0.0002864436,0.0007249988,0.002380253,0.00138986,0.002263417,0.001195095,0.003903599,0.002724203],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00112936,"about_ca_system_score_gemma":0.00145263,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009348174,"about_ca_topic_score_gemma":0.001242275,"domain_scores_codex":[0.9995141,0.0001329016,0.0000577411,0.0000817308,0.0001778572,0.00003561304],"domain_scores_gemma":[0.9979241,0.001452615,0.0001132065,0.00006748229,0.0003497094,0.00009279434],"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":[0.000068318,0.00004943235,0.0002632655,0.01149703,0.0001174946,0.0003627213,0.00006108209,0.0004485995,0.001250475,0.01486376,0.03146305,0.9395548],"study_design_scores_gemma":[0.00001491572,0.00005146005,0.0007397563,0.004379294,0.0001185756,0.002440377,0.00005802176,0.0001473546,0.0003993183,0.008098686,0.9835239,0.00002849963],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.00006431054,0.9972687,0.0005319036,0.0006884228,0.000323167,0.000004052399,0.00002188636,0.00001442491,0.001083242],"genre_scores_gemma":[0.0005689788,0.9976416,0.0005438751,0.0004357306,0.000363342,0.000006587705,0.00003903524,0.000004426152,0.0003965888],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.003425548,"threshold_uncertainty_score":0.010827,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.102666335084446,"score_gpt":0.3968043702794763,"score_spread":0.2941380351950304,"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."}}