{"id":"W6995441589","doi":"","title":"Ovarian cancer pathology characteristics as predictors of variant pathogenicity in <i>BRCA1</i> and <i>BRCA2</i>","year":2023,"lang":"en","type":"article","venue":"VBN Forskningsportal (Aalborg Universitet)","topic":"BRCA gene mutations in cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Université Laval; McMaster University; University of Toronto","funders":"Medical Research and Materiel Command; European Social Fund; National Cancer Institute; European Regional Development Fund; Instituto de Salud Carlos III; Cancer Council Tasmania; Cancer Council NSW; Cancer Council Victoria; Medical Research Council; Canadian Institutes of Health Research; Cancer Center, University of Kansas; National Institutes of Health; Government of Canada; Centre Léon Bérard; Maastricht Universitair Medisch Centrum; Universiteit Leiden; Institut Claudius Regaud; Deutsches Krebsforschungszentrum; Unicancer; Freistaat Sachsen; Fox Chase Cancer Center; Ministero dello Sviluppo Economico; Hospices Civils de Lyon; Cancer Council South Australia; Institut Bergonié; Deutsche Krebshilfe; Leids Universitair Medisch Centrum; Institut Gustave-Roussy; Erasmus Medisch Centrum; Radboud Universitair Medisch Centrum; Generalitat de Catalunya; Ovarian Cancer Research Fund; Bundesministerium für Bildung und Forschung; Universiteit Maastricht; Fundación Mutua Madrileña; Ministère du Développement Économique, de l’Innovation et de l’Exportation; Radboud Universiteit; Institut National de la Santé et de la Recherche Médicale; Cancer Research UK; Fondation du cancer du sein du Québec; Gray Foundation; Royal Marsden NHS Foundation Trust; Centres de Recerca de Catalunya; Ovarian Cancer Australia; Associazione Italiana per la Ricerca sul Cancro; Genome Canada; Breast Cancer Research Foundation; Univerzita Karlova v Praze; National Institute for Health and Care Research; Kansas Bioscience Authority; Amsterdam University Medical Centers; Rijksuniversiteit Groningen; Cancer Australia; Ministerstvo Zdravotnictví Ceské Republiky; European Commission; Lietuvos Mokslo Taryba; National Health and Medical Research Council; Fundación Cellex; Universitair Medisch Centrum Groningen","keywords":"Ovarian cancer; Pathogenicity; Disease; Cancer; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004560139,0.0001968583,0.0002217352,0.0006442874,0.0002177737,0.0005531826,0.0002746167,0.0006443599,0.003912411],"category_scores_gemma":[0.003601325,0.0002020306,0.0003470072,0.0005561438,0.0003492051,0.0003316174,0.0003029151,0.000535365,0.0005448438],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001855273,"about_ca_system_score_gemma":0.0003951532,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002263314,"about_ca_topic_score_gemma":0.002313819,"domain_scores_codex":[0.999774,0.00005118998,0.00002694648,0.00004807459,0.00003865331,0.00006111809],"domain_scores_gemma":[0.9972196,0.001200636,0.0007480272,0.0001327127,0.0001200989,0.0005790414],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005352235,0.00003490528,0.9962358,0.000005220951,0.00003738731,0.0003204258,0.0000343959,0.00009315589,0.0007093614,0.00003259555,0.0002091251,0.001752354],"study_design_scores_gemma":[0.00001782617,0.000103392,0.9978035,0.000005035627,0.00004483034,0.0009368825,0.00009528954,0.0004131971,0.0001900494,0.00008577126,0.00030009,0.000004031222],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988157,0.0002049432,0.00005137158,0.00008231262,0.00001794764,0.000002890165,0.0001991858,0.000004808912,0.0006209128],"genre_scores_gemma":[0.9993016,0.00005313843,0.0000491528,0.00002311655,0.0000222435,0.000002717167,0.0001970343,0.00000535446,0.0003455753],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003912411,"threshold_uncertainty_score":0.01308835,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00722378947704455,"score_gpt":0.2251811492939742,"score_spread":0.2179573598169296,"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."}}