{"id":"W2886099286","doi":"10.1016/j.jacc.2018.03.547","title":"When Genes, More Than Phenotype, Identify Different Diseases","year":2018,"lang":"en","type":"letter","venue":"Journal of the American College of Cardiology","topic":"Connective tissue disorders research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"University Hospital Foundation","funders":"","keywords":"Medicine; Phenotype; Gene; Genetics; Computational biology; Clinical phenotype; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002203354,0.0003254077,0.001179329,0.0001812644,0.00008111386,0.00001045917,0.001400223,0.0002905355,0.00002864514],"category_scores_gemma":[0.0004205627,0.0002185402,0.0009811899,0.0001693285,0.001404932,0.000003761883,0.0005852228,0.0007128812,0.000003591449],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000669068,"about_ca_system_score_gemma":0.0003868989,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002162761,"about_ca_topic_score_gemma":0.00001477975,"domain_scores_codex":[0.9973217,0.0008465889,0.0005412956,0.0003462285,0.0005374547,0.0004067303],"domain_scores_gemma":[0.9970042,0.0001224919,0.001203204,0.0008636497,0.0007222271,0.00008428582],"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":[0.0004277411,0.00002374899,0.01593434,0.00005575393,0.001432232,0.0001973668,0.00001128976,0.00001656845,0.01677745,0.000002641935,0.9644581,0.0006627303],"study_design_scores_gemma":[0.0006820249,0.001478014,0.05216649,0.00006754824,0.0004619565,0.0005395496,0.0001803743,0.000002843622,0.003994212,0.000440855,0.9396439,0.0003422644],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8034382,0.01013602,0.0005763132,0.1816777,0.00169659,0.0005538624,0.001416611,0.000006304915,0.0004983345],"genre_scores_gemma":[0.9298134,0.002271187,0.0001817521,0.045634,0.01759888,0.0000303857,0.0001402866,0.0001637503,0.004166338],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1360437,"threshold_uncertainty_score":0.8911811,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01397977157657954,"score_gpt":0.293440847705258,"score_spread":0.2794610761286784,"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."}}