{"id":"W2995279767","doi":"10.1097/mph.0000000000001668","title":"Germline MUTYH Mutation in a Pediatric Cancer Survivor Developing a Secondary Malignancy","year":2019,"lang":"en","type":"article","venue":"Journal of Pediatric Hematology/Oncology","topic":"DNA Repair Mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"National Cancer Institute","keywords":"MUTYH; Germline; Germline mutation; Genetics; Biology; Sanger sequencing; Pediatric cancer; Cancer; Cancer research; 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":[0.0001257737,0.0004037178,0.0003272194,0.0007866896,0.0007712238,0.0002889663,0.0002170993,0.0007046373,0.001823091],"category_scores_gemma":[0.0006393276,0.0002621971,0.000394484,0.0005349949,0.000296002,0.0001789145,0.0003110159,0.000569455,0.0002010831],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004182409,"about_ca_system_score_gemma":0.000368986,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002683621,"about_ca_topic_score_gemma":0.00267868,"domain_scores_codex":[0.9998862,0.00001176049,0.000009337206,0.00003259357,0.00002443076,0.00003580208],"domain_scores_gemma":[0.999653,0.00007093056,0.0001047627,0.00001589246,0.0000308488,0.0001246353],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.0002432829,0.0001674408,0.5669186,0.00004341875,0.00006976647,0.406538,0.0008343097,0.0003163656,0.0140781,0.0003158758,0.001313946,0.009160951],"study_design_scores_gemma":[0.00002578333,0.000753168,0.3859604,0.00002457078,0.00009963397,0.6048925,0.0007336995,0.0007764035,0.004583939,0.0002002705,0.001927276,0.0000224366],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989188,0.0001128653,0.0001600342,0.0001613727,0.000009415026,0.0000104647,0.0001227123,0.000016688,0.0004877842],"genre_scores_gemma":[0.9988777,0.0001950261,0.0003756335,0.0001045913,0.00001844847,0.000004450691,0.0001195087,0.000007062728,0.0002975609],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002683621,"threshold_uncertainty_score":0.006098866,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01182444467765329,"score_gpt":0.294339233417061,"score_spread":0.2825147887394077,"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."}}