{"id":"W4404024219","doi":"10.1007/s00439-024-02707-9","title":"Germline copy number variants and endometrial cancer risk","year":2024,"lang":"en","type":"article","venue":"Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Cancer Institute; Department of Health and Social Care; Medical Research Council; Cancer Institute NSW; Fonds Wetenschappelijk Onderzoek; Canadian Institutes of Health Research; Deutsche Gesetzliche Unfallversicherung; National Institutes of Health; Deutsche Krebshilfe; Cancer Council Western Australia; NIHR Cambridge Biomedical Research Centre; European Commission; National Health and Medical Research Council; Wellcome Trust; Cancer Research UK; Deutsche Forschungsgemeinschaft; Government of Canada; National Breast Cancer Foundation; Bundesministerium für Bildung und Forschung; National Institute for Health and Care Research; Health Research Council of New Zealand; Genome Canada; Fondation du cancer du sein du Québec; Deutsches Krebsforschungszentrum","keywords":"Endometrial cancer; Biology; Copy-number variation; Germline; Genetics; Cancer; Gene duplication; Candidate gene; Human genetics; Germline mutation; Gene; Genome-wide association study; Gene dosage; Genome; Single-nucleotide polymorphism; Genotype; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003905976,0.0001849201,0.0001513608,0.0008575153,0.0001238922,0.0003010606,0.000225867,0.0002647467,0.003069147],"category_scores_gemma":[0.002975075,0.0001147287,0.00016103,0.0005477209,0.0002181122,0.0001580665,0.0002548101,0.0002386739,0.0001558744],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001510923,"about_ca_system_score_gemma":0.00009284363,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001071863,"about_ca_topic_score_gemma":0.0008456897,"domain_scores_codex":[0.9997185,0.00008205393,0.00002078863,0.00006996532,0.00007922267,0.00002953747],"domain_scores_gemma":[0.9987814,0.0005945034,0.0004033754,0.00006087543,0.00007205184,0.00008781406],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002724271,0.00001521621,0.9805947,0.00003151832,0.0001800053,0.0005468866,0.00004750409,0.0003486508,0.009152332,0.0002050352,0.0001320788,0.008473662],"study_design_scores_gemma":[0.00001504407,0.00008943147,0.9916862,0.00001243153,0.0001077896,0.003155292,0.00005209447,0.001574663,0.002173656,0.000627704,0.00050017,0.000005497644],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972242,0.001257608,0.0006455134,0.00007285208,0.00000703283,0.000004834138,0.0002409781,0.00001672529,0.0005303412],"genre_scores_gemma":[0.9993896,0.0001453339,0.000208547,0.000006934537,0.000006550547,0.000001847709,0.00007996587,0.000001649406,0.0001595601],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003069147,"threshold_uncertainty_score":0.01026726,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01282544371258161,"score_gpt":0.2816347598062107,"score_spread":0.2688093160936291,"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."}}