{"id":"W2469511355","doi":"10.1093/hmg/ddw196","title":"Exome genotyping arrays to identify rare and low frequency variants associated with epithelial ovarian cancer risk","year":2016,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Ovarian cancer diagnosis and treatment","field":"Medicine","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada's Michael Smith Genome Sciences Centre; Simon Fraser University; BC Cancer Agency","funders":"Medical Research and Materiel Command; National Center for Research Resources; Medical Research Council; National Institutes of Health; Ministry of Health, Labour and Welfare; National Cancer Institute; University College London; Lon V. Smith Foundation; National Institute for Health and Care Research; National Health and Medical Research Council; Minnesota Ovarian Cancer Alliance; University of Cambridge; Cancer Research UK; Mayo Foundation for Medical Education and Research; Francis Crick Institute; Rutgers Cancer Institute of New Jersey; U.S. Department of Defense; Oregon Health and Science University; Pomorski Uniwersytet Medyczny W Szczecinie; Oak Foundation","keywords":"Biology; Genotyping; Exome; Missense mutation; Exome sequencing; Linkage disequilibrium; Genetics; Ovarian cancer; Minor allele frequency; Germline mutation; Germline; Allele frequency; Gene; Cancer; Allele; Mutation; Genotype; Single-nucleotide polymorphism","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":[0.001744595,0.00053829,0.0005304443,0.001436442,0.0005531955,0.0012354,0.0006208674,0.0009875882,0.008171855],"category_scores_gemma":[0.005930035,0.0003403231,0.0007847717,0.001436156,0.0002647753,0.00051882,0.0006969436,0.0009320363,0.001454092],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003463143,"about_ca_system_score_gemma":0.0003281094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002009272,"about_ca_topic_score_gemma":0.007320224,"domain_scores_codex":[0.9977528,0.0007813692,0.0002008686,0.0006898107,0.0004196133,0.0001555208],"domain_scores_gemma":[0.9971642,0.001395197,0.000499623,0.0005721676,0.0002563486,0.0001124593],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001321812,0.0003242283,0.5430453,0.0009209735,0.003412194,0.0013888,0.0004154904,0.004301182,0.1766463,0.00719181,0.02022677,0.2408052],"study_design_scores_gemma":[0.0001882044,0.0003807374,0.795953,0.0003823457,0.001407493,0.004991428,0.0002218846,0.009701764,0.07831615,0.01445814,0.0938881,0.0001108283],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7386723,0.01361568,0.1576701,0.006862827,0.001118298,0.0004291292,0.04962645,0.001303089,0.03070217],"genre_scores_gemma":[0.9174643,0.001754766,0.05596354,0.002611994,0.0002375381,0.0003775815,0.009910309,0.0002302193,0.01144978],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008171855,"threshold_uncertainty_score":0.02733761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01632855070384859,"score_gpt":0.2860799035568496,"score_spread":0.269751352853001,"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."}}