{"id":"W4391319996","doi":"10.1002/ajmg.a.63496","title":"Medulloblastoma and other neoplasms in patients with heterozygous germline <scp><i>SUFU</i></scp> variants: A scoping review","year":2024,"lang":"en","type":"review","venue":"American Journal of Medical Genetics Part A","topic":"Hedgehog Signaling Pathway Studies","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; University of Toronto; St. Michael's Hospital","funders":"National Institute of Environmental Health Sciences; National Cancer Institute","keywords":"Germline; Medulloblastoma; Medicine; Germline mutation; Genetics; Oncology; Cancer research; Biology; Mutation; Gene","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":[0.00320913,0.000830159,0.003751078,0.02376962,0.0006673622,0.001797992,0.001173821,0.001552927,0.003027207],"category_scores_gemma":[0.01388675,0.0007044449,0.003537923,0.02032177,0.0007535388,0.002138091,0.001092011,0.0007204109,0.0003626608],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001845136,"about_ca_system_score_gemma":0.005448869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.008988108,"about_ca_topic_score_gemma":0.01672436,"domain_scores_codex":[0.99696,0.000496671,0.001703054,0.0002586152,0.0005016183,0.00007996081],"domain_scores_gemma":[0.9860808,0.008605224,0.00340835,0.0001924085,0.0015798,0.0001334956],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"systematic_review","study_design_gemma":"systematic_review","study_design_scores_codex":[0.0002191226,0.00002754794,0.004784151,0.8522265,0.003973069,0.000875613,0.0006731694,0.0001252379,0.0007043227,0.0004778175,0.00439327,0.1315202],"study_design_scores_gemma":[0.00004661481,0.0001193486,0.009865458,0.9303837,0.01830862,0.002469815,0.000652949,0.00005283158,0.0003094191,0.0002168976,0.0375403,0.00003402823],"study_design_candidate":"systematic_review","study_design_consensus":"systematic_review","genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.001300656,0.9974305,0.00006096332,0.0001702812,0.00007267055,0.00009932271,0.0004132899,0.000003815036,0.0004485195],"genre_scores_gemma":[0.007606669,0.9913676,0.0002634128,0.0002104768,0.00005397728,0.0001361806,0.0002647502,0.0000024583,0.00009439688],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.02376962,"threshold_uncertainty_score":0.01787162,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01816329302816159,"score_gpt":0.3237540391261493,"score_spread":0.3055907460979876,"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."}}