{"id":"W3021956676","doi":"10.1210/jendso/bvaa046.453","title":"MON-212 Genetic Spectrum Of A Canadian Cohort Of Sporadic Pheochromocytomas And Paragangliomas: Higher Prevalence Of Germline Mutations In PGL And NGS Assay With A Multigene Panel Increases The Mutation Rate","year":2020,"lang":"en","type":"article","venue":"Journal of the Endocrine Society","topic":"Adrenal and Paraganglionic Tumors","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"SDHD; Germline mutation; Sanger sequencing; SDHB; Genetic testing; Germline; Paraganglioma; SDHA; Medicine; Pheochromocytoma; Cohort; Genetics; Internal medicine; Oncology; Mutation; Pathology; Biology; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0003567085,0.0003061415,0.0002592519,0.001274379,0.00169275,0.0004737396,0.000535947,0.0002835231,0.002691515],"category_scores_gemma":[0.001191995,0.0002607996,0.0003179274,0.001365441,0.0004903806,0.0001601431,0.0004221703,0.0003109533,0.0002170006],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.004785295,"about_ca_system_score_gemma":0.00472439,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8364598,"about_ca_topic_score_gemma":0.8645666,"domain_scores_codex":[0.9995229,0.00002332779,0.00002216036,0.0000983883,0.0002062295,0.0001269293],"domain_scores_gemma":[0.9991703,0.00005481531,0.0001753809,0.00003222125,0.0003486605,0.0002187451],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00006323697,0.0000148627,0.9956927,0.00001063213,0.00002407669,0.0006201028,0.0001924475,0.00006065772,0.0008603058,0.0000361181,0.0004122819,0.002012722],"study_design_scores_gemma":[0.000006156996,0.0000351297,0.9969429,0.00000961794,0.0000181912,0.001738966,0.0003334886,0.0002030792,0.0001449216,0.00001269988,0.0005468926,0.000007968657],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980838,0.0001468716,0.0000504037,0.00006862653,0.000003852896,0.0000112184,0.0005275362,0.000005400119,0.001102394],"genre_scores_gemma":[0.9992854,0.00009288221,0.00007415922,0.00003357173,0.000003707575,0.000003027955,0.00031605,0.000002598876,0.0001885237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1635402,"threshold_uncertainty_score":0.3290066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01744642762487018,"score_gpt":0.2359140053856701,"score_spread":0.2184675777608,"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."}}