{"id":"W2965429867","doi":"10.1111/cge.13613","title":"Comprehensive characterization of a Canadian cohort of von Hippel‐Lindau disease patients","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Cancer, Hypoxia, and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Sinai Health System; Lunenfeld-Tanenbaum Research Institute; McMaster University; University of Toronto; University Health Network; SickKids Foundation; Toronto Western Hospital; Princess Margaret Cancer Centre; Hospital for Sick Children","funders":"Hospital for Sick Children","keywords":"Von Hippel–Lindau disease; Penetrance; Missense mutation; Medicine; Frameshift mutation; Cohort; Disease; Hemangioblastoma; Population; Bioinformatics; Genetic testing; Oncology; Internal medicine; Genetics; Pathology; Biology; Mutation; Phenotype; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0006476219,0.0004521018,0.0004580024,0.002569129,0.003202129,0.000950615,0.0009336522,0.0004314094,0.002612152],"category_scores_gemma":[0.002265187,0.0002898158,0.0003998352,0.004422563,0.0005424895,0.0003319663,0.0008865821,0.000488568,0.0003908665],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.01173482,"about_ca_system_score_gemma":0.01524348,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.958553,"about_ca_topic_score_gemma":0.9647447,"domain_scores_codex":[0.9991285,0.00003802508,0.00005161616,0.0002397507,0.0003129011,0.0002292388],"domain_scores_gemma":[0.9984669,0.000088631,0.000184347,0.000108727,0.0006967201,0.0004547048],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001366472,0.00004168494,0.9860821,0.00003346985,0.00005453582,0.0008443874,0.0008527323,0.0001702408,0.001481275,0.0002730624,0.003248683,0.006781192],"study_design_scores_gemma":[0.000009650287,0.00002523867,0.9951444,0.0000154945,0.00002999402,0.000787204,0.0005660517,0.0002663753,0.0001418742,0.0000407442,0.002953132,0.00001969331],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9800379,0.0004479075,0.0003650155,0.0003759848,0.00001487479,0.00009855037,0.01500191,0.00002781422,0.003629993],"genre_scores_gemma":[0.9887605,0.0005920732,0.0006976204,0.0001716108,0.00001342316,0.00004536832,0.008808705,0.00001992663,0.0008907517],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04144698,"threshold_uncertainty_score":0.08514243,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01917789448790811,"score_gpt":0.2831869164974496,"score_spread":0.2640090220095415,"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."}}