{"id":"W4412421032","doi":"10.1038/s41588-025-02250-x","title":"Germline genetic variation impacts clonal hematopoiesis landscape and progression to malignancy","year":2025,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Cancer Genomics and Diagnostics","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University","funders":"National Heart, Lung, and Blood Institute; National Institute on Aging; Science for Life Laboratory; Children's Discovery Institute; Edward P. Evans Foundation; Alexander and Margaret Stewart Trust; Swedish Cancer Foundation; National Cancer Institute; National Institutes of Health; Vetenskapsrådet; Prostate Cancer Foundation","keywords":"Biology; Germline; Haematopoiesis; Malignancy; Genetics; Genetic variation; Somatic evolution in cancer; Evolutionary biology; Variation (astronomy); Cancer; Gene; Stem cell","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009883505,0.0001584188,0.0001339484,0.00008647519,0.00009915203,0.00005091687,0.0001357756,0.0003804265,0.00001007786],"category_scores_gemma":[0.0001447615,0.0001580663,0.00004383951,0.0001699326,0.00002898498,0.000001582148,0.0001717936,0.0001328519,0.000003147412],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001763472,"about_ca_system_score_gemma":0.0001657569,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000003910049,"about_ca_topic_score_gemma":0.0000434493,"domain_scores_codex":[0.999072,0.00002567708,0.0001880194,0.0003472505,0.0001294552,0.0002375625],"domain_scores_gemma":[0.9993462,0.00002109939,0.00005497594,0.0003071496,0.0001391821,0.0001314127],"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":[0.0008188707,0.0004838859,0.2725435,0.0005116539,0.00042302,0.00004035853,0.0008154067,0.001074039,0.5362522,0.002689081,0.08980086,0.09454711],"study_design_scores_gemma":[0.001589873,0.0005565752,0.6030364,0.0001852725,0.0001454535,0.00003039517,0.00006013396,0.0003497038,0.155853,0.001288309,0.2362714,0.0006335448],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9637364,0.03042176,0.003035636,0.00104568,0.0004624684,0.000337134,0.00004362656,0.0000140396,0.0009032747],"genre_scores_gemma":[0.9792723,0.003085267,0.01496491,0.001877073,0.0004113743,0.00002677419,0.00007883462,0.00002082687,0.0002626284],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3803992,"threshold_uncertainty_score":0.6445755,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002923274227631282,"score_gpt":0.2651236250766759,"score_spread":0.2622003508490446,"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."}}