{"id":"W2003619271","doi":"10.1007/s00439-012-1183-1","title":"Identification of germline genomic copy number variation in familial pancreatic cancer","year":2012,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; Toronto General Hospital; Lunenfeld-Tanenbaum Research Institute; Mount Sinai Hospital","funders":"National Cancer Institute; Canadian Institutes of Health Research","keywords":"Biology; Copy-number variation; Genetics; Germline; Pancreatic cancer; Comparative genomic hybridization; Germline mutation; Cancer; Human genetics; Copy number analysis; Gene; Bioinformatics; Genome; Mutation","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":[0.0001700712,0.0000984691,0.0001165781,0.00003521119,0.00004776486,0.00001040376,0.0001084671,0.00009587275,0.0001196377],"category_scores_gemma":[0.00001008028,0.0001077131,0.00004222107,0.00005917385,0.00003657748,0.000004936434,0.00004921191,0.00004124665,0.00001589998],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003404782,"about_ca_system_score_gemma":0.00004489237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000119544,"about_ca_topic_score_gemma":0.00008807991,"domain_scores_codex":[0.9991716,0.0000479788,0.0003670332,0.0001436553,0.00008301737,0.0001867583],"domain_scores_gemma":[0.9995062,0.000004987632,0.0001526148,0.0002335692,0.00006384103,0.00003883549],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00001043588,0.00007111413,0.2983037,0.00002233341,0.00002085725,8.124056e-8,0.0004304139,0.000399723,0.7001259,0.0004398955,0.00005781715,0.0001177338],"study_design_scores_gemma":[0.0004048847,0.00003944397,0.8197411,0.000007387011,0.00003780041,0.000002984592,0.00008832671,0.00008732869,0.1784056,0.0001697731,0.0008748076,0.0001405284],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979143,0.0008178093,0.0005747477,0.00001257271,0.000174301,0.0001398961,0.0000449633,0.000004400962,0.0003170589],"genre_scores_gemma":[0.9981114,0.0003194799,0.000352887,0.00003245699,0.0003817856,0.00003626465,0.00009870681,0.00001681934,0.0006501714],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5217203,"threshold_uncertainty_score":0.4392413,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01311026354066145,"score_gpt":0.2697075969379357,"score_spread":0.2565973333972742,"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."}}