{"id":"W2786405572","doi":"10.1136/jmedgenet-2017-104882","title":"Evidence for genetic anticipation in vonHippel-Lindau syndrome","year":2018,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Cancer, Hypoxia, and Metabolism","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Princess Margaret Cancer Centre; Hospital for Sick Children; University of Toronto","funders":"","keywords":"Telomere; Anticipation (artificial intelligence); Somatic cell; Biology; Allele; Fluorescence in situ hybridization; Oncology; Medicine; Genetics; Internal medicine; Chromosome; 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":[0.0003155611,0.0002228738,0.0001381111,0.001312686,0.0002981534,0.0002909672,0.0002264642,0.000347421,0.002851245],"category_scores_gemma":[0.002320997,0.0001200218,0.000182371,0.0007038416,0.000422523,0.0002307598,0.000278683,0.0002530027,0.0001898104],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000180834,"about_ca_system_score_gemma":0.0002685343,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140886,"about_ca_topic_score_gemma":0.001487021,"domain_scores_codex":[0.9997826,0.00004399523,0.00001969781,0.00005075123,0.00005893403,0.00004406334],"domain_scores_gemma":[0.9978105,0.0009919038,0.0008396113,0.00005653991,0.000130115,0.0001713015],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002407761,0.00002224969,0.9770933,0.00004487332,0.00002730013,0.008605689,0.0002226378,0.0002234194,0.006920625,0.0002816,0.000218414,0.006099181],"study_design_scores_gemma":[0.00001721026,0.0002087959,0.9445322,0.00003967255,0.00007672667,0.04971385,0.0002917643,0.0006010219,0.002551811,0.0004861246,0.001468237,0.00001262993],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983668,0.0004693771,0.0002557674,0.00007736093,0.000005841394,0.000003179933,0.0001147779,0.00001269505,0.0006943491],"genre_scores_gemma":[0.9993455,0.0002225221,0.0002168277,0.00001905473,0.00001556864,0.000001966675,0.00008657781,0.000002450186,0.00008944892],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002851245,"threshold_uncertainty_score":0.009538352,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05163127759565926,"score_gpt":0.361787430149724,"score_spread":0.3101561525540648,"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."}}