{"id":"W4399302613","doi":"10.3390/genes15060715","title":"Innovations in Phenotyping and Diagnostics Create Opportunities for Improved Treatment and Genetic Counseling for Rare Diseases","year":2024,"lang":"en","type":"editorial","venue":"Genes","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital","funders":"","keywords":"Genetic counseling; Massive parallel sequencing; Medicine; Computational biology; DNA sequencing; Genetics; Biology; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00004197838,0.0002722686,0.0002316108,0.0000916968,0.0001042049,0.0000876803,0.00006861864,0.0002420975,7.130786e-7],"category_scores_gemma":[0.0001676125,0.0002652984,0.00005209519,0.00004206787,0.00006065831,0.000002154938,0.0000713081,0.00004605967,1.36745e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001901283,"about_ca_system_score_gemma":0.0002688462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000164329,"about_ca_topic_score_gemma":0.000179051,"domain_scores_codex":[0.9989802,0.00001294681,0.00024913,0.0004792895,0.00005440646,0.0002240823],"domain_scores_gemma":[0.9994683,0.0001414746,0.00006593775,0.0001376462,0.0001277463,0.00005891164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0005243688,0.0002431017,0.0006232465,0.002675778,0.0006644503,0.00002187783,0.0004885216,0.0001104564,0.08101799,0.00006308495,0.6939972,0.2195699],"study_design_scores_gemma":[0.001125834,0.0004495391,0.000418889,0.00009687711,0.0002045046,0.000001896909,0.0002655135,0.0003622107,0.001631629,0.0004391615,0.9945819,0.0004220041],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.5281773,0.2090736,0.002426622,0.0006825631,0.2409659,0.004148662,0.0144346,0.00005211533,0.00003868222],"genre_scores_gemma":[0.04892397,0.7251615,0.0090756,0.0005014125,0.1790036,0.005483377,0.02721766,0.0005177755,0.004115143],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.5160879,"threshold_uncertainty_score":0.9999799,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02131444453073064,"score_gpt":0.2635481539462308,"score_spread":0.2422337094155002,"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."}}