{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002693921,0.001028507,0.0003690116,0.001893928,0.0005992677,0.0003746342,0.0004381022,0.0009231283,0.0078453],"category_scores_gemma":[0.001160667,0.0003637818,0.000368505,0.0006715069,0.0005420602,0.0002879776,0.000458222,0.000704114,0.0007612366],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002432166,"about_ca_system_score_gemma":0.0002226092,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008884057,"about_ca_topic_score_gemma":0.0009748705,"domain_scores_codex":[0.9996953,0.00007448215,0.00003260593,0.00008144798,0.00007483209,0.00004128748],"domain_scores_gemma":[0.9989445,0.0004198499,0.0002928566,0.00008492673,0.00006155174,0.0001963637],"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":[0.002545187,0.0003378155,0.1158528,0.0001146035,0.0002390783,0.09238769,0.0005685421,0.001215516,0.7690582,0.003069868,0.0009525557,0.0136581],"study_design_scores_gemma":[0.0002832726,0.0007981007,0.3697416,0.00008314104,0.0005282944,0.3834651,0.0006971552,0.005544549,0.2259777,0.003798284,0.008986114,0.00009666813],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938912,0.0003948567,0.001701569,0.0002048751,0.00006909806,0.00002126687,0.0002414746,0.0001070512,0.003368587],"genre_scores_gemma":[0.9983612,0.0001174131,0.0005224683,0.00002457913,0.00002880461,0.000004933615,0.00004861323,0.00002556888,0.0008665044],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0078453,"threshold_uncertainty_score":0.02624518,"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."}}