{"id":"W4404090951","doi":"10.1038/s42003-024-07140-2","title":"Mutational signature analyses in multi-child families reveal sources of age-related increases in human germline mutations","year":2024,"lang":"en","type":"article","venue":"Communications Biology","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Carleton University; University of Ottawa; Health Canada","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Human Genome Research Institute; University of California, San Diego; Health Canada; Canada Research Chairs; U.S. Department of Health and Human Services; Government of Canada; Wellcome Trust","keywords":"Germline; Biology; Genetics; Germline mutation; Human genome; DNA repair; DNA mismatch repair; Gene; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003495576,0.0002061343,0.0002254621,0.001199214,0.0002360575,0.0002645128,0.0001474794,0.0002663552,0.001892136],"category_scores_gemma":[0.001338422,0.0001229135,0.0002455651,0.0006414501,0.0001572163,0.0001308096,0.0002850224,0.0001770699,0.000163827],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000151994,"about_ca_system_score_gemma":0.0001044057,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001241685,"about_ca_topic_score_gemma":0.001816296,"domain_scores_codex":[0.9996691,0.00005613777,0.00002991169,0.000139921,0.00006712906,0.00003787698],"domain_scores_gemma":[0.9991103,0.0002999181,0.000378032,0.0000776468,0.00005815199,0.00007592895],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003151056,0.0000225139,0.8964766,0.00003862189,0.0001158126,0.001763498,0.0003017624,0.0002648768,0.09019281,0.00007476139,0.0001022636,0.01033143],"study_design_scores_gemma":[0.000002571358,0.00006422771,0.9901558,0.000004285493,0.0000389534,0.002980791,0.0000758646,0.0002707819,0.006006374,0.00003625407,0.0003591879,0.000004877994],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989761,0.0002002754,0.0003562408,0.000009062188,0.000001691691,0.000002987717,0.0002853895,0.00001053809,0.0001577937],"genre_scores_gemma":[0.9990882,0.00010492,0.0003858894,0.000008489056,0.000002179245,0.000003158969,0.0002703894,0.000007478346,0.0001293071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001892136,"threshold_uncertainty_score":0.006329894,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03837648956378306,"score_gpt":0.3647532056716082,"score_spread":0.3263767161078251,"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."}}