{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001115769,0.0001254994,0.0001025102,0.00003673238,0.0001268713,0.00009182972,0.00009002801,0.0001025765,0.0004188218],"category_scores_gemma":[0.00001549857,0.000119212,0.0000520663,0.00007311698,0.00005915782,0.000002458814,0.00009752516,0.00008045234,0.00003037978],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001194357,"about_ca_system_score_gemma":0.00005903426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007896313,"about_ca_topic_score_gemma":0.00007013495,"domain_scores_codex":[0.999254,0.00003844623,0.0001757145,0.0002744112,0.00008165901,0.0001757151],"domain_scores_gemma":[0.9996613,0.00001250924,0.00003683652,0.0001865672,0.00003957579,0.00006324484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0001509278,0.0002089975,0.4157238,0.00032004,0.001180383,0.00005178107,0.001412329,0.0006029321,0.520819,0.01034474,0.02807115,0.02111395],"study_design_scores_gemma":[0.003657811,0.0008323972,0.1484931,0.0001074399,0.0005935487,0.0001953822,0.00028885,0.001021245,0.2073177,0.0055678,0.6304554,0.001469232],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911845,0.005870763,0.0005208589,0.00003977501,0.000423564,0.0001034054,0.0001937791,0.00001974026,0.00164366],"genre_scores_gemma":[0.9918896,0.003084605,0.0007193097,0.00005666925,0.001083525,0.00002177611,0.00007892949,0.00002573006,0.003039853],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6023843,"threshold_uncertainty_score":0.4861326,"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."}}