{"id":"W1504643153","doi":"10.1111/cge.12320","title":"Evolution of a genetic diagnosis","year":2013,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; University of Ottawa; Western University","funders":"","keywords":"Genetic diagnosis; Phenotype; Genotype; Genetic testing; Probabilistic logic; Patient care; Genetics; Medicine; Bioinformatics; Biology; Computer science; Gene; Artificial intelligence","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":[0.0001476153,0.00007969949,0.0003457432,0.00003292206,0.00002351602,0.000004006902,0.00005340362,0.0001010484,0.0001209817],"category_scores_gemma":[0.0004053231,0.00006615825,0.0002212663,0.0001147195,0.0002067843,0.00001073709,0.00007033773,0.0001047215,0.000148665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001883738,"about_ca_system_score_gemma":0.00005224356,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002517826,"about_ca_topic_score_gemma":0.000002016767,"domain_scores_codex":[0.9989954,0.00004541895,0.0005010365,0.0001701158,0.0001477488,0.0001402648],"domain_scores_gemma":[0.9990782,0.0002231197,0.00008392498,0.0002964686,0.0002054888,0.0001128189],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00001642427,0.0001804917,0.9373047,0.0000402974,0.00006767172,0.000004220317,0.00003604337,0.000007554505,0.0002567174,0.00003803947,0.008603608,0.05344417],"study_design_scores_gemma":[0.000651999,0.00050904,0.9876899,0.00004200728,0.0001918005,0.0000106727,0.0000790804,0.0001412099,0.0004337844,0.0005002369,0.009683414,0.00006688409],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.989246,0.006990521,0.0006885339,0.0003389817,0.0003550341,0.0003294708,0.000003603639,0.00002220145,0.002025629],"genre_scores_gemma":[0.9906617,0.003292489,0.005093105,0.0002322691,0.0003969657,0.00005586414,0.00000141235,0.00001080581,0.0002554044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05337728,"threshold_uncertainty_score":0.2697855,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05534081282392873,"score_gpt":0.3599372709017953,"score_spread":0.3045964580778666,"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."}}