{"id":"W4401907249","doi":"10.1038/s41467-024-51529-w","title":"Cell-free DNA from germline TP53 mutation carriers reflect cancer-like fragmentation patterns","year":2024,"lang":"en","type":"article","venue":"Nature Communications","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Institute for Cancer Research; Tornado Spectral Systems (Canada); Vector Institute; Toronto General Hospital; University Health Network; SickKids Foundation; University of Toronto; Hospital for Sick Children; Princess Margaret Cancer Centre","funders":"","keywords":"Germline; Germline mutation; Chromatin; Fragmentation (computing); DNA fragmentation; Biology; Cancer; Cancer research; Genetics; Li–Fraumeni syndrome; Mutation; DNA; Programmed cell death; Gene; Apoptosis","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":[0.0002364422,0.0002338917,0.0001767271,0.001675079,0.0002162374,0.0003897006,0.0001703749,0.0005855101,0.002181247],"category_scores_gemma":[0.001036824,0.0001670411,0.0001645108,0.0005746561,0.0002984079,0.0002233716,0.0002840621,0.0002725995,0.0003526179],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001900156,"about_ca_system_score_gemma":0.00008758489,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001132778,"about_ca_topic_score_gemma":0.001348466,"domain_scores_codex":[0.9997969,0.00002878728,0.00001916222,0.00006224359,0.00006039603,0.00003245264],"domain_scores_gemma":[0.999297,0.0002453996,0.0002191799,0.00006043668,0.0001002043,0.00007772163],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007360795,0.00003410558,0.1222975,0.000120781,0.0001083328,0.0003451002,0.0003153057,0.0001953549,0.8617896,0.000124675,0.0001549834,0.01377807],"study_design_scores_gemma":[0.00002223381,0.0004922632,0.6753668,0.0000444442,0.0001097687,0.005484192,0.0004480904,0.002121903,0.3125795,0.0006496985,0.00265353,0.00002758635],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9927015,0.0014972,0.004352478,0.00008105314,0.00001430561,0.00001422426,0.0006940907,0.00009146379,0.000553545],"genre_scores_gemma":[0.9958999,0.0003833025,0.002375023,0.00005753281,0.000005635686,0.00001320283,0.0006504777,0.00001172631,0.00060332],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002181247,"threshold_uncertainty_score":0.007297039,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01142520756322776,"score_gpt":0.3119134603445429,"score_spread":0.3004882527813152,"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."}}