{"id":"W2071193398","doi":"10.1002/humu.20940","title":"Detection of mosaic<i>RB1</i>mutations in families with retinoblastoma","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Ocular Oncology and Treatments","field":"Medicine","cited_by":162,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; University of Toronto; Princess Margaret Cancer Centre; Toronto Western Hospital","funders":"","keywords":"Biology; Mosaic; Genetics; Retinoblastoma; 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":[0.0007555233,0.000479176,0.000362829,0.001283814,0.000487469,0.0003501554,0.0002631949,0.0004640845,0.001037486],"category_scores_gemma":[0.003515253,0.0004518668,0.0001665478,0.0004407957,0.0007054473,0.0002453597,0.000304471,0.0002626547,0.0001647291],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002633297,"about_ca_system_score_gemma":0.0001841073,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002514253,"about_ca_topic_score_gemma":0.002014476,"domain_scores_codex":[0.9991378,0.0002467478,0.00005711926,0.0002348015,0.0002177751,0.0001057398],"domain_scores_gemma":[0.9989983,0.0004864653,0.0002667397,0.00006285214,0.00007196913,0.0001136734],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003158831,0.00005210728,0.9518468,0.00003112402,0.00004734302,0.004593965,0.0008289634,0.0002244711,0.0329138,0.00009376957,0.000142273,0.008909388],"study_design_scores_gemma":[0.0000231432,0.0003102601,0.9559205,0.00001476181,0.0000723073,0.03464971,0.0003523895,0.0009849523,0.007065026,0.0001181096,0.0004694826,0.00001938147],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995684,0.0001014714,0.0001528792,0.000008948727,9.934716e-7,0.000002014613,0.0000205715,0.00001013722,0.0001344989],"genre_scores_gemma":[0.9995602,0.00006881448,0.000256437,0.000008332277,0.000002902997,0.000003171016,0.00003939191,0.000003273963,0.00005738293],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002514253,"threshold_uncertainty_score":0.00499922,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0113274941788174,"score_gpt":0.2828544213061507,"score_spread":0.2715269271273333,"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."}}