{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003199952,0.0001254918,0.0003850017,0.00009487044,0.00004786497,0.000005000077,0.0001158496,0.00002836089,0.0000353519],"category_scores_gemma":[0.0001427619,0.00006926218,0.0001264204,0.0006041672,0.0003088522,0.00006265516,0.00003077088,0.0002207863,1.557071e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003805487,"about_ca_system_score_gemma":0.0003186657,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.006206196,"about_ca_topic_score_gemma":0.001349197,"domain_scores_codex":[0.9988219,0.0001220944,0.0005133803,0.0001164383,0.000270906,0.0001553438],"domain_scores_gemma":[0.9987817,0.0001928562,0.0005815449,0.000132084,0.0001536539,0.000158129],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001296878,0.0004792669,0.9530168,0.002206348,0.00130219,0.00393776,0.01495575,0.003379954,0.01765949,0.0001570954,0.0009363273,0.0006721399],"study_design_scores_gemma":[0.002224016,0.0004518934,0.9739429,0.0003349746,0.0004787908,0.004243879,0.0006951788,0.001373637,0.01602667,0.0001264541,0.00002676106,0.00007482198],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939753,0.001984049,0.00003435131,0.003593594,0.00002425514,0.0003179344,0.00004153543,0.000002765451,0.00002619552],"genre_scores_gemma":[0.9985331,0.0002833518,0.000815868,0.0002033894,0.00007634168,0.000003358738,0.000002676972,0.00001218901,0.00006976591],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02092613,"threshold_uncertainty_score":0.9381953,"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."}}