{"id":"W2132322074","doi":"10.1038/sj.ejhg.5200505","title":"Two p16 (CDKN2A) germline mutations in 30 Israeli melanoma families","year":2000,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Toronto","funders":"Tel Aviv University; Israel Cancer Association","keywords":"Genetics; Germline mutation; CDKN2A; Biology; Germline; Missense mutation; Exon; Mutation; Single-strand conformation polymorphism; Gene; Cancer research","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":[0.0002790398,0.001071412,0.0004265115,0.002183036,0.001679438,0.0006587282,0.0006302798,0.0009034451,0.002242527],"category_scores_gemma":[0.001253739,0.000550567,0.0004824269,0.00073884,0.001002548,0.000273181,0.0008172145,0.0005243701,0.0005351254],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008996602,"about_ca_system_score_gemma":0.0004582022,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00763811,"about_ca_topic_score_gemma":0.006401828,"domain_scores_codex":[0.9995567,0.00005261378,0.0000542538,0.000113321,0.00007361318,0.0001494827],"domain_scores_gemma":[0.9994729,0.0001290408,0.0001062382,0.00002859078,0.00005693765,0.0002062256],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001443716,0.0007011562,0.6353095,0.00009926709,0.0001483505,0.299567,0.008748582,0.0004101934,0.0344062,0.0004974647,0.0008119062,0.01785666],"study_design_scores_gemma":[0.0002047665,0.0007399339,0.6457492,0.00007099109,0.0002071764,0.3358645,0.004979229,0.0005089999,0.007289572,0.0003764576,0.003920992,0.00008806743],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989002,0.0001615741,0.00007236576,0.0000375741,0.000006141904,0.00001774888,0.00007144319,0.000005413687,0.0007274214],"genre_scores_gemma":[0.9991342,0.0001198146,0.0001027385,0.00004053083,0.000007861466,0.00001110241,0.00009064726,0.000005803524,0.000487228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00763811,"threshold_uncertainty_score":0.01518726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01205451859047865,"score_gpt":0.2588489346468482,"score_spread":0.2467944160563695,"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."}}