{"id":"W2069956102","doi":"10.1038/sj.onc.1206736","title":"Germline splicing mutations of CDKN2A predispose to melanoma","year":2003,"lang":"en","type":"article","venue":"Oncogene","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"North York General Hospital; University of Toronto","funders":"Canadian Institutes of Health Research; National Cancer Institute; Junta de Castilla y León; Hope Center for Neurological Disorders","keywords":"CDKN2A; Biology; splice; Genetics; Exon; RNA splicing; Splice site mutation; Germline mutation; Intron; Gene; Mutation; Coding region; Alternative splicing; RNA","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001702612,0.00007768593,0.0001017715,0.00004942848,0.00004700542,0.000007637681,0.0001040064,0.00005443567,0.00004596435],"category_scores_gemma":[0.0001853081,0.00007403906,0.00005477391,0.0001244164,0.00002549035,0.000001822835,0.00003973242,0.00003865104,0.00001915341],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001060114,"about_ca_system_score_gemma":0.0000811692,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004041909,"about_ca_topic_score_gemma":0.00009828348,"domain_scores_codex":[0.999298,0.000038941,0.000156719,0.0001874603,0.0001166252,0.0002022792],"domain_scores_gemma":[0.9994885,0.00001045508,0.00003553123,0.0002524753,0.00008616522,0.0001268639],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002986305,0.00004088,0.003089286,0.000009184053,0.0000231694,0.000002830527,0.00002668476,0.0002021211,0.9942633,0.000173577,0.0003989339,0.001740157],"study_design_scores_gemma":[0.0003318103,0.0003139305,0.001745089,0.00001037328,0.000008021398,0.00001419332,0.00005092251,0.00005104118,0.9870183,0.00003404448,0.01032954,0.00009270629],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911441,0.0002303565,0.003244452,0.0000820268,0.00004323297,0.000144848,0.00001991712,0.000005251911,0.005085766],"genre_scores_gemma":[0.9918636,0.00002905377,0.003934727,0.00009046088,0.00007675146,0.00001606187,0.00004509332,0.00001424649,0.003930024],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009930604,"threshold_uncertainty_score":0.3019225,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01185530904194787,"score_gpt":0.2900221628445227,"score_spread":0.2781668538025748,"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."}}