{"id":"W3113060413","doi":"10.1093/neuonc/noaa222.732","title":"RARE-21. CANCER SPECTRUM IN GERMLINE SUFU MUTATION CARRIERS: A COLLABORATIVE PROJECT OF THE SIOPE HOST GENOME WORKING GROUP","year":2020,"lang":"en","type":"article","venue":"Neuro-Oncology","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital","funders":"","keywords":"Germline; Medicine; Cohort; Cancer; Germline mutation; Medulloblastoma; Internal medicine; Oncology; Gastroenterology; Mutation; Pathology; Biology; Genetics","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":[0.003365965,0.000514854,0.0004322741,0.003788374,0.0009628774,0.0006041425,0.0004528614,0.0003450665,0.003312296],"category_scores_gemma":[0.002187594,0.0001819104,0.000353038,0.002288505,0.0003435117,0.0002255232,0.001100855,0.0002064983,0.0005841199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008178724,"about_ca_system_score_gemma":0.001557106,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0231559,"about_ca_topic_score_gemma":0.01147754,"domain_scores_codex":[0.9990828,0.0003499905,0.0000835715,0.000206612,0.0001865237,0.00009043045],"domain_scores_gemma":[0.9978749,0.0005838324,0.000399242,0.0002282882,0.0004392998,0.0004745323],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001271684,0.0001844342,0.9437243,0.0002167077,0.0002021617,0.001684331,0.001121546,0.0004178545,0.004905123,0.0003850994,0.004096226,0.04179047],"study_design_scores_gemma":[0.0001730949,0.0003341089,0.9848779,0.000106116,0.0001286758,0.002267241,0.000841433,0.0006585501,0.001394879,0.0001546979,0.009050481,0.00001277346],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9776959,0.0009648811,0.001102453,0.0002439339,0.00001721921,0.0002834663,0.01591772,0.00007614375,0.003698305],"genre_scores_gemma":[0.9591414,0.001884111,0.00517974,0.0001550451,0.00006487924,0.0004781467,0.03038404,0.00006402395,0.002648757],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0231559,"threshold_uncertainty_score":0.0460422,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0266935883136722,"score_gpt":0.2919195217558639,"score_spread":0.2652259334421917,"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."}}