{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.002733645,0.0004246504,0.0004163031,0.001997889,0.001442014,0.001641046,0.0008807132,0.002115052,0.001514807],"category_scores_gemma":[0.02033481,0.0003781331,0.0004753896,0.0006945911,0.001900055,0.002364328,0.002079036,0.003707831,0.000623635],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002352474,"about_ca_system_score_gemma":0.001599881,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002502634,"about_ca_topic_score_gemma":0.002199475,"domain_scores_codex":[0.9974739,0.0005857236,0.0002459034,0.0005554549,0.0008298313,0.0003091514],"domain_scores_gemma":[0.9930367,0.002373661,0.0004821713,0.0005733704,0.002096007,0.00143811],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0004641097,0.0004499925,0.2399625,0.0001845529,0.000150047,0.3415276,0.01171562,0.003221297,0.01733574,0.03313698,0.02623871,0.3256128],"study_design_scores_gemma":[0.00004395946,0.0005186388,0.07751559,0.0006596627,0.0001725299,0.7917105,0.006723139,0.009651341,0.00485386,0.02988327,0.07805945,0.0002080832],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8404667,0.006467704,0.05194483,0.06739827,0.001879649,0.0001880115,0.0002978249,0.0005639919,0.03079304],"genre_scores_gemma":[0.9604391,0.002662275,0.02335423,0.008417066,0.001096683,0.00003913623,0.0001818811,0.0001259332,0.003683565],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002733645,"threshold_uncertainty_score":0.01706851,"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."}}